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- Abbott, Jessica; Atwal Clinic: Genomic & Personalized Medicine
- Abdel-Rahman, Mohamed, MD, PhD; The Ohio State University
- Abdul-Rahman, Omar, MD; University of Mississippi Medical Center
- Abela, Lucia, MD, MSc; UCL Great Ormond Street Institute of Child Health
- Abicht, Angela, MD; Medical Genetics Center
- Abidi, Fatima E, MS, PhD; Greenwood Genetic Center
- Aboussouan, Loutfi S, MD; Cleveland Clinic
- Abrams, Charles K, MD, PhD; University of Illinois at Chicago College of Medicine
- Abrash, Elizabeth, BA; Mayo Clinic
- Abu-Amero, Khaled K, PhD; King Saud University
- Abusrair, Ali, MD; King Faisal Specialist Hospital and Research Center
- Achermann, John C, MB, MD, PhD; University College London
- Ackerman, Kate Guernsey, MD; University of Rochester
- Adam, Margaret P, MD, MS; University of Washington
- Adams, Cameron, MD; Cedars-Sinai Medical Center
- Adams, David R, MD, PhD; National Human Genome Research Institute
- Adams, Judith; University of Melbourne
- Adams, Paul, PhD; University of British Columbia
- Adang, Laura, MD, PhD; The Children's Hospital of Philadelphia
- Addissie, Yonit A, BA; National Human Genome Research Institute
- Adler, Eric D, MD; University of California San Diego
- Adsit, Jessica, MS; Legacy Center for Maternal Fetal Medicine
- Afzal, Ali R, MD, MSc, PhD; University of London
- Agochukwu, Nneamaka B, BS; National Human Genome Research Institute
- Agosto, Caterina, MD; Padua University Hospital
- Ah Mew, Nicholas, MD; Children’s National Hospital
- Ahearn, Mary Ellen, MS; Translational Genomics Research Institute
- Ahmad, Saya, BSc; University Medical Center Utrecht
- Ahmed, Rebekah, PhD; University of Sydney
- Ahnen, Dennis J, MD; Gastroenterology of the Rockies
- Ahn, Haejun, MD; Stanford University School of Medicine
- Ahrens-Nicklas, Rebecca, MD, PhD; The Children's Hospital of Philadelphia
- Aicardi, Jean, MD; Hôpital Robert Debré
- Aigner, Ludwig, PhD; Paracelsus Medical University Salzburg
- Ait-El-Mkadem Saadi, Samira, PhD; Nice Hospital
- Akers, Amy, PhD; Angioma Alliance
- Akesson, Lauren S, MBBS (Hons), PhD; Victorian Clinical Genetics Services
- Akman, H Orhan, PhD; Columbia University Medical Center
- Aksentijevich, Ivona, MD; National Human Genome Research Institute
- Al-Hashem, Amal, MD; Prince Sultan Military and Medical City
- Al-Hassnan, Zuhair N, MD; King Faisal Specialist Hospital & Research Center
- Al-Shekaili, Hilal, PhD; University of British Columbia
- Ala-Kokko, Leena M, MD, PhD; Connective Tissue Gene Tests
- Alasti, Fatemeh, PhD; University of Iowa
- Albert, Jessica, PhD; National Human Genome Research Institute
- Alders, Mariëlle, PhD; University of Amsterdam
- Aleck, Kirk, MD; Phoenix Children's Hospital
- Alecu, Julian E; Boston Children's Hospital
- Alexander, R Todd, MD, PhD; University of Alberta
- Alfadhel, Majid, MD, MHSc; King Abdulaziz Medical City
- Alkaya, Dilek Uludag, MD, PhD; Istanbul University
- Alkhunaizi, Ebba, MD; North York General Hospital
- Alkuraya, Fowzan S, MD; King Faisal Specialist Hospital and Research Center
- Allanson, Judith E, MD; Children's Hospital of Eastern Ontario
- Allen, Albert J, MD, PhD; Eli Lilly Laboratories, Inc
- Allenspach, Eric J, MD, PhD; University of Washington
- Almannai, Mohammed, MD; King Abdulaziz Medical City
- Alter, Blanche P, MD, MPH; National Cancer Institute
- Ambartsumyan, Lusine, MD; Children's Hospital
- Amendola, Maria, MD; UPMC Children's Hospital of Pittsburgh
- Amiel, Jeanne, MD, PhD; Institut Imagine
- Amos, Christopher I, PhD; Baylor College of Medicine
- Amrom, Dina, MD; Montreal Neurological Hospital and Institute
- Amstutz, Christoph, MD, PhD; Luzerner Kantonsspital
- Amudhavalli, Shivarajan Manickavasagam, MD; Children's Mercy Hospitals and Clinics
- Andermann, Eva, MD, PhD; Montreal Neurological Hospital and Institute
- Andermann, Frederick, MD; Montreal Neurological Hospital and Institute
- Anderson, David G, MBBCh; University of the Witwatersrand
- Anderson, Karl E, MD; University of Texas Medical Branch
- Anderson, Matthew W, MD, PhD; BloodCenter of Wisconsin
- Andreu, Antonio L, MD, PhD; Hospital Universitari Vall d'Hebron
- Andrews, Caroline V, MSc; Children's Hospital Boston
- Angelini, Corrado, MD; University of Padova
- Angione, Katie, MS; University of Colorado
- Anikster, Yair, MD; Safra Children's Hospital
- Antonellis, Anthony, PhD; University of Michigan Medical School
- Anttonen, Anna-Kaisa, MD, PhD; University of Helsinki
- Anyane-Yeboa, Kwame, MD; Columbia University Irving Medical Center
- Aoki, Masashi, MD, PhD; Tohoku University School of Medicine
- Appelman-Dijkstra, Natasha, MD, PhD; Leiden University Medical Center
- Applegarth, Derek A, PhD; University of British Columbia
- Apse, Kira, ScM; Beth Israel Deaconess Medical Center
- Arbour, Laura T, MD; University of British Columbia
- Ardinger, Holly H, MD; GeneReviews
- Arenas, Joaquin, PhD; Hospital 12 de Octubre Research Institute
- Arias, Manuel, MD, PhD; Complexo Hospitalario Universitario
- Arkilo, Dimitrios, MD; Minnesota Epilepsy Group
- Arlt, Wiebke, DSc, MD; University of Birmingham
- Arnhold, Ivo Jorge Prado, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Arora, Veronica, MBBS, MD, MS; Sir Ganga Ram Hospital
- Arriaga, Moises A, MBA, MD; Louisiana State University Health Sciences Center
- Arts, Heleen, PhD; McMaster University
- Arzel-Hézode, Marianne, MD; Assistance Publique – Hôpitaux de Paris
- Ashizawa, Tetsuo, MD; Houston Methodist Research Institute
- Assia Batzir, Nurit, MD; Schneider Children's Medical Center of Israel
- Asthagiri, Ashok, MD; University of Virginia
- Astigarraga, Itziar, MD, PhD; Hospital Universitario Cruces
- Astrin, Kenneth H, PhD; The Mount Sinai School of Medicine
- Atwal, Paldeep, MD; Atwal Clinic: Genomic & Personalized Medicine
- Aubertin, Gudrun, MD, MSc; Children's and Women's Health Centre of British Columbia
- Auer-Grumbach, Michaela, MD; Medical University Graz
- Au, Kit Sing, PhD; McGovern Medical School
- Au, Margaret G, MS; Massachusetts General Hospital
- Au, Ping-Yee Billie, MD, PhD; Clinical Geneticist, Alberta Children's Hospital, University of Calgary
- Austin, Eric D, MD, MSc; Vanderbilt University Medical Center
- Austin, Stephanie, MA, MS; Amicus Therapeutics, Inc
- Autti, Taina, MD, PhD; University of Helsinki
- Avner, Ellis D, MD; Children's Hospital Health System of Wisconsin
- Axeen, Erika, MD; University of Virginia
- Axell, Lisen, MD; University of Colorado Anschutz Medical Center
- Axelrod, Felicia B, MD; NYU Medical Center
- Ayhan, Fatma, BS; University of Florida College of Medicine
- Aylsworth, Arthur S, MD; GC University of North Carolina
- Ayres, Lachlan, MB ChB; University Hospitals Dorset
- Azaiez, Hela, MS, PhD; University of Iowa Hospitals and Clinics
- Azzedine, Hamid, PhD; Academic Medical Center
- Baas, Frank, MD, PhD; Leiden University Medical Center
- Babovic-Vuksanovic, Dusica, MD; Mayo Clinic
- Bachmann, André Stephan, MS, PhD; Michigan State University
- Bacino, Carlos A, MD; Baylor College of Medicine
- Badens, Catherine, PharmD, PhD; Aix-Marseille University
- Bader, Benedikt, MD; Ludwig-Maximilians-Universität
- Badiger, Vaishnavi Ashok, MSc; Kasturba Medical College, Manipal
- Badminton, Michael N, PhD; University Hospital of Wales
- Bahi-Buisson, Nadia, MD, PhD; Université de Paris
- Bailey, Laurie, MS; Cincinnati Children's Hospital Medical Center
- Bain, Jennifer, MD, PhD; Columbia University Irving Medical Center
- Baker, Duncan, MSc; Sheffield Children's NHS Foundation Trust
- Baker, Maria J, PhD; Penn State Hershey Cancer Institute
- Baker, Peter, MD; Children's Hospital Colorado
- Balasubramanian, Meena, MBBS, MD; University of Sheffield
- Balasubramanian, Ravikumar, MD, PhD; Massachusetts General Hospital
- Baldassari, Sara, PhD; Paris Brain Institute
- Balduini, Carlo L, MD; University of Pavia
- Bale, Sherri J, PhD; GeneDx, Inc
- Bali, Deeksha S, PhD; Duke University Medical Center
- Balint, Bettina, MD; UCL Queen Square Institute of Neurology
- Ballhausen, Diana, MD; Lausanne University Hospital
- Ballout, Rami A, MD; National Institutes of Health
- Baloh, Robert H, MD, PhD; Cedars Sinai Medical Center
- Balwani, Manisha, MD, MS; Icahn School of Medicine at Mount Sinai
- Banka, Siddharth, MD, PhD; University of Manchester
- Bannwarth, Sylvie, PhD; Nice Hospital
- Baple, Emma L, BSc, MBBS, PhD; University of Exeter Medical School
- Bar-Aluma, Bat-El, MD; Tel Aviv University
- Baradaran-Heravi, Alireza, MD, PhD; University of British Columbia
- Baralle, Diana, MBBS, MD; University of Southampton
- Barbaro, Michela, PhD; Karolinska University Hospital
- Barbarot, Sébastien, MD, PhD; Service de Génétique médicale – CHU
- Barbot, Clara, MD, PhD; Universidade do Porto
- Baris, Hagit N, MD; The Genetics Clinic - Rambam Health Care Campus
- Barrett, Timothy, MBBS, PhD; University of Birmingham
- Barrios, Emily S; Children's National Medical Center
- Barr, Marci L, ScM; Geisinger Health System
- Barron, Karyl, MD; National Institute of Allergy and Infectious Diseases
- Barry, Brenda J, MS; Harvard Medical School
- Barth, Peter G, MD, PhD; University of Amsterdam
- Barton, James C, MD; Southern Iron Disorders Center
- Basel-Salmon, Lina, MD, PhD; Rabin Medical Center
- Basel, Donald, MD; Medical College of Wisconsin
- Baskin, Berivan, PhD; Uppsala University Hospital
- Bason, Lynn D, MS; Children's Hospital of Philadelphia
- Basson, Craig T, MD, PhD; Novartis Institutes for BioMedical Research
- Bassuk, Alexander G, MD, PhD; University of Iowa
- Bauer, Andrew J, MD; Children’s Hospital of Philadelphia
- Baulac, Stéphanie, PhD; Institut du Cerveau et de la Moelle épinière
- Baumann, Matthias, MD; Medical University of Innsbruck
- Baumbach-Reardon, Lisa, PhD; Dr Kiran C Patel College of Medicine - Tampa Bay Campus
- Bayat, Allan; Danish Epilepsy Center
- Bayrak-Toydemir, Pinar, MD, PhD; University of Utah
- Beales, Philip L, BSc, MD; University College London
- Bean, Lora JH, PhD; PerkinElmer Genomics, Inc
- Beara-Lasic, Lada, MD; New York University School of Medicine
- Bearden, David R, MD; University of Rochester School of Medicine
- Beaudet, Arthur L, MD; Baylor College of Medicine
- Beaudin, Marie, MD; Université Laval
- Bech-Hansen, N Torben, PhD; University of Calgary
- Becker, Michael A, MD; University of Chicago Medical Center
- Beckwith, J Bruce, MD; Loma Linda University
- Begtrup, Amber H, PhD; GeneDx, Inc
- Behne, Robert; Boston Children's Hospital
- Beighton, Peter H, MD, PhD; University of Cape Town
- Beitel, Lenore K, PhD; McGill University
- Bejjani, Bassem A, MD; Washington State University
- Bellini, Giulia, PhD; Second University of Naples
- Bellus, Gary A, MD, PhD; Geisinger Health System
- Belmont, John W, MD, PhD; Baylor College of Medicine
- Ben Harouch, Shani, MD; Galilee Medical Center
- Ben Yaou, Rabah, MD; Centre de Recherche en Myologie
- Ben Zeev, Bruria, MD; Sheba Medical Center, Sackler School of Medicine
- Ben-Zeev, Bruria, MD; Sheba Medical Center
- Bendahhou, Saïd, PhD; Université Nice Sophia Antipolis
- Bender, MA, MD, PhD; University of Washington
- Benke, Tim A, MD, PhD; University of Colorado School of Medicine
- Bennett, James, MD, PhD; University of Washington
- Bennett, Michael J, PhD; Children's Hospital of Philadelphia
- Bennett, Robin L, MS; University of Washington
- Bennett, Steffany AL, PhD; University of Ottawa
- Bens, Susanne, MD; Ulm University & Ulm University Medical Center
- Bentivegna, Angela, PhD; University of Milano-Bicocca
- Bento, Celeste, PhD; Centro Hospitalar e Universitário de Coimbra
- Bercovitch, Lionel G, MD; Brown Medical School
- Berglöf, Anna, PhD, VMD; Karolinska Institutet
- Berkovic, Samuel F, MD; Epilepsy Research Institute
- Bernard, Geneviève, MD, MSc; McGill University Health Center
- Bernier, Raphael, PhD; University of Washington
- Berry-Kravis, Elizabeth M, MD, PhD; Rush University Medical Center
- Berry, Gerard T, MD; Boston Children's Hospital
- Bertaux, Karine, PhD; La Timone Children’s Hospital
- Bertini, Enrico S, MD; Ospedale Bambino Gesu
- Bertola, Francesca, PhD; ASST Monza – San Gerardo Hospital
- Betensky, Brian; Weill Medical College of Cornell University
- Bhagwat, Pranjali K; Baylor College of Medicine
- Bharath, Rose Dawn; National Institute of Mental Health and Neurosciences
- Bhatia, Gita, PhD; University of Texs Medical Branch
- Bhatia, Sameer, MBBS, MD; Sir Ganga Ram Hospital
- Bhattacharjee, Arin, PhD; University of Buffalo
- Bhavani, Gandham SriLakshmi, MSc, PhD; Manipal Academy of Higher Education
- Bhoj, Elizabeth, MD, PhD; Children's Hospital of Philadelphia
- Biaggioni, Italo, MD; Vanderbilt University Medical Center
- Biancheri, Roberta, MD, PhD; Great Ormond Street Hospital
- Bidichandani, Sanjay I, MBBS, PhD; University of Oklahoma Health Sciences Center
- Biesecker, Leslie G, MD; National Institutes of Health
- Bijarnia-Mahay, Sunita, MBBS; Sir Ganga Ram Hospital
- Bikker, Hennie, PhD; University of Amsterdam
- Binder, Gerhard, MD; University Children's Hospital
- Bindu, Parayil Sankaran, MD; Children's Hospital at Westmead
- Bird, Thomas D, MD; University of Washington
- ADCY5 Dyskinesia
- Alzheimer Disease Overview
- Charcot-Marie-Tooth Hereditary Neuropathy Overview
- GDAP1-Related Hereditary Motor and Sensory Neuropathy
- GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes
- Hereditary Ataxia Overview
- Hereditary Neuropathy with Liability to Pressure Palsies
- Myotonic Dystrophy Type 1
- SAMD9L Ataxia-Pancytopenia Syndrome
- Spinocerebellar Ataxia Type 14
- Spinocerebellar Ataxia Type 7
- Bissell, D Montgomery, MD; University of California San Francisco
- Bjork, Bryan Cary, PhD; Harvard Medical School
- Blackstone, Craig, MD, PhD; Massachusetts General Hospital
- Blake, Kim, MD; Dalhousie University
- Blau, Nenad, PhD; University Children's Hospital
- Bleesing, Jack JH, MD, PhD; Cincinnati Children's Hospital
- Bley, Annette E, MD; University Children's Hospital
- Bleyer, Anthony J, MD, MS; Wake Forest School of Medicine
- Bloise, Raffaella, MD; ICS Maugeri
- Bloomer, Joseph, MD; University of Alabama at Birmingham
- Bober, Michael B, MD, PhD; Nemours Children’s Health
- Boccuto, Luigi, MD; Greenwood Genetic Center
- Bodell, Adria, MS; Beth Israel Deaconess Medical Center
- Boehm, Corinne D, MS; GC Johns Hopkins Hospital
- Boerkoel, Cornelius F, MD, PhD; University of British Columbia
- Boespflug-Tanguy, Odile, MD, PhD; UMR INSERM 676 / Hôpital Robert Debré
- Bohlega, Saeed A, MD; King Faisal Specialist Hospital and Research Center
- Bojanowski, Christine, MD; Tulane University School of Medicine
- Bolduc, Véronique, PhD; National Institute of Neurological Disorders and Stroke
- Boman, Helge, MD, PhD; Haukeland University Hospital
- Bomont, Pascale, PhD; Institute for Neurosciences of Montpellier
- Bonafé, Luisa, MD, PhD; Lausanne University Hospital
- Bonkovsky, Herbert, MD; Wake Forest University School of Medicine
- Bonne, Gisèle, PhD; Centre de Recherche en Myologie
- Bontoux, Luc, MD; Centre Hospitalier Universitaire d'Angers
- Boon, Elles MJ, PhD; Leiden University Medical Center
- Boon, Laurence M, MD, PhD; Cliniques universitaires Saint-Luc
- Boonstra, Nils-Erik, MD; Haukeland University Hospital
- Booth, Kevin, PhD; Indiana School of Medicine
- Borck, Guntram, MD, PhD; University of Ulm
- Bornfeld, Norbert, MD; University of Essen
- Borroni, Barbara, MD; University of Brescia
- Bostwick, Bret, MD; Baylor College of Medicine
- Bouchard, Jean-Pierre, MD; Laval University
- Boulinguiez, Alexis, PhD; Centre de Recherche en Myologie
- Bourdeaut, Franck, MD, PhD; Paris Sciences et Lettres Research University
- Bourgeois, Patrice, PhD; La Timone Children’s Hospital
- Boussion, Simon, MD; CHU de Lille
- Bowdin, Sarah, BMed, MSc; Addenbrooke's Hospital
- Bower, Matthew A, MS; University of Minnesota Medical Center, Fairview
- Boyce, Alison M, MD; National Institute of Dental and Craniofacial Research
- Boycott, Kym M, MD, PhD; Children's Hospital of Eastern Ontario
- Boyd, Charles D, PhD; John A Burns School of Medicine, University of Hawaii
- Boyd, Kerry E, MD; Hamilton Health Services
- Brabbing-Goldstein, Dana, MD; Rabin Medical Center
- Bradbury, Kimberley, BA, MA, MBBS; Great Ormond Street Hospital for Children
- Braden, Ruth, PhD; University of Melbourne
- Brais, Bernard, M Phil, MD, PhD; McGill University
- Bramswig, Nuria C, MD; Institute of Human Genetics
- Brandi, Maria Luisa, MD, PhD; Italian Foundation for Research on Bone Diseases
- Brand, Randall, MD; University of Pittsburgh
- Brandt, Vicky L; Baylor College of Medicine
- Brashear, Allison, MD; Wake Forest School of Medicine
- Braverman, Nancy E, MD, MS; McGill University
- Bredrup, Cecilie, MD, PhD; Haukeland University Hospital
- Bree, Alanna F, MD; Dermatology Specialists of Houston
- Brennan, Christine, PhD; University of Colorado
- Bresin, Elena, MD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Bressman, Susan B, MD; Columbia University Medical Center
- Breuning, Martijn H, MD, PhD; Leiden University Medical Center
- Brewer, Eileen D, MD; Baylor College of Medicine
- Brice, Alexis, MD; Hôpital Pitié-Salpêtrière
- Brice, Glen W, RGN BSc (Hons); St George's, University of London
- Briere, Lauren, MS; Massachusetts General Hospital
- Briggs, Michael D, PhD; Newcastle University
- Brilliant, Murray H, PhD; University of Wisconsin School of Medicine
- Brisson, Jean-Denis, MD; Sherbrooke University
- Broadbridge, Elizabeth, BS; National Human Genome Research Institute
- Brock, Pamela, MS; The Ohio State University Comprehensive Cancer Center
- Brock, Stefanie, MD; Universitair Ziekenhuis Brussel
- Bronicki, Lucas, PhD; Cincinnati Children's Hospital Medical Center
- Brooks, Brian P, MD, PhD; National Eye Institute
- Brosh, Robert M, PhD; National Institute on Aging/NIH
- Brower, Cheryl L, MSPH, RN; Puget Sound Blood Center
- Brown, Jeremy M, MD; Addenbrooke's Hospital
- Brown, W Ted, MD, PhD; Institute for Basic Research in Developmental Disabilities
- Bruckner, Anna L, MD; University of Colorado School of Medicine
- Bruel, Ange-Line, PhD; University of Burgundy
- Brugada, Josep, MD, PhD; University of Barcelona
- Brugada, Pedro, MD, PhD; Free University of Brussels
- Brugada, Ramon, MD, PhD; University of Girona
- Brunetti-Pierri, Nicola, MD; University of Naples "Federico II"
- Brunkow, Mary E, PhD; Institute for Systems Biology
- Brunner, Han, MD, PhD; Radboud University Medical Center
- Bruno, Claudio, MD, PhD; Gaslini Institute
- Brunzell, John D, MD; University of Washington School of Medicine
- Brusco, Alfredo, PhD; University of Turin
- Brussino, Alessandro, MD; University of Turin
- Bryant, Laura, PhD; Children's Hospital of Philadelphia
- Bryceson, Yenan, PhD; Karolinska Institutet
- Brzezinski, Jack, MD, PhD; Hospital for Sick Children
- Brüggemann, Norbert, MD; University of Lübeck
- Buck, Cassandra, MS; Massachusetts General Hospital
- Buckley, Michael Francis, MB ChB, PhD; Prince of Wales Hospital
- Bull, Laura N, PhD; University of California, San Francisco
- Bupp, Caleb, MD; Spectrum Health
- Burgmaier, Kathrin, MD; University of Cologne
- Burkardt, Deepika, DO; National Human Genome Research Institute
- Burke, Wylie, MD, PhD; University of Washington
- Burnett, John R, MB ChB, MD, PhD; University of Western Australia
- Burrage, Lindsay, MD, PhD; Baylor College of Medicine
- Burr, Amanda, MS; Casey Eye Institute / Oregon Health & Science University
- Burrell, T Lindsey, PhD; Emory University School of Medicine
- Burt, Randall W, MD; Huntsman Cancer Institute
- Bushby, Katharine Mary, MB ChB, MD; University of Newcastle upon Tyne
- Busra, Aynekin, PhD; University College London
- Butler-Browne, Gillian, PhD; Centre de Recherche en Myologie
- Byers, Peter H, MD; University of Washington Medical Center
- Böckenhauer, Detlef, MD, PhD; University Hospitals Leuven
- Bönnemann, Carsten G, MD; National Institute of Neurological Disorders and Stroke
- Cabalza, Jessica L; George Washington University School of Medicine
- Cabanillas, Maria E, MD; University of Texas MD Anderson Cancer Center
- Caggana, Michele, ScD; Wadsworth Center - New York State Department of Health
- Calame, Daniel, MD, PhD; Baylor College of Medicine
- Caldovic, Ljubica, PhD; Children's National Hospital
- Cali, Elisa, MD; UCL Queen Square Institute of Neurology
- Callewaert, Bert L, MD, PhD; Ghent University Hospital
- Calvert, Guy, DPhil; Dup15q Alliance
- Camacho, Jose A, MD; University of California, Irvine
- Camaschella, Clara, MD; Istituto Scientifico San Raffaele
- Campeau, Philippe M, MD; Sainte-Justine Hospital
- Campuzano, Oscar, PhD; University of Girona
- Cao, Antonio, MD; Consiglio Nazionale delle Ricerche
- Capece, Tara; University of Pittsburgh
- Capp, Philip K; George Washington University School of Medicine
- Caprioli, Jessica, Biol Sci D; IRCCS – Istituto di Ricerche Farmacologiche Mario Negri
- Caputi, Caterina, MD; Sapienza Università di Roma
- Carey, Catherine, MD; Torbay Hospital
- Cario, Holger, MD; University Medical Center Ulm
- Carlberg, Katie, MD; University of Washington
- Carlo, Maria I, MD; Memorial Sloan Kettering Cancer Center
- Carmignac, Virginie, PhD; Université de Bourgogne
- Caron, Nicholas S, PhD; University of British Columbia
- Carr, Ann, MS; Westat
- Carrillo, Nuria, MD; National Human Genome Research Institute
- Carson, Vincent J, MD; Clinic for Special Children
- Carter, Melissa T, MD, MSc; The Children’s Hospital of Eastern Ontario
- Carvalho, Luciani Renata, MD, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Carvill, Gemma, PhD; Northwestern University
- Casari, Giorgio, PhD; San Raffaele University
- Casey, Hannah L, BS; University of Chicago
- Cassidy, Suzanne B, MD; Children's Hospital of Philadelphia
- Cathey, Sara S, MD; Greenwood Genetic Center
- Caudill, Marissa; University of Connecticut Health Center
- Cavallin, Mara, MD; Paris Descartes University
- Cebulla, Colleen, MD, PhD; The Ohio State University
- Cecchi, Alana C, MS; University of Texas Health Science Center
- Cederbaum, Stephen, MD; UCLA Medical Center
- Chaix, Charlène; La Timone Children’s Hospital
- Chamberlain, Stormy, PhD; University of Connecticut Health Center
- Chamova, Teodora, MD, PhD; Medical University of Sofia
- Chander, Varuna, MS; Baylor College of Medicine
- Chandra, Sharat, MD; Cincinnati Children's Hospital Medical Center
- Chang, Bernard, MD; Harvard Medical School
- Chang, Irene J, MD; Seattle Children's Hospital Seattle, Washington
- Chanprasert, Sirisak, MD; Baylor College of Medicine
- Chansky, Howard A, MD; University of Washington
- Chan, Sophelia HS, MD; University of Hong Kong
- Chao, Daniel L, MD, PhD; Shiley Eye Institute / UCSD
- Chapman, Kimberly A, MD, PhD; Children's National Health System
- Charles, Jane, MD; Medical University of South Carolina
- Chaussenot, Annabelle, MD; Nice Hospital
- Chelban, Viorica, MD; University College London Institute of Neurology
- Chen, Dong-Hui, MD, PhD; University of Washington Medical Center
- Cheng, Edith, MD, MS; University of Washington School of Medicine
- Cheng, Shirley SW, MD; Hong Kong Children's Hospital
- Chen, I-Ping, DDS, MS; UConn Health
- Chen, Karin, MD; University of Washington
- Chen, Marcus, MD; National Heart, Lung, and Blood Institute - NIH
- Chen, Ming Hui, MD, MMSc; Boston Children's Hospital
- Chen, Xin, PhD; University of Texas Southwestern Medical Center
- Chen, Yuan-Tsong, MD, PhD; Duke University Medical Center
- Chen, Zhongbo, BM BCh, MA; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery
- Cheung, Sau Wai, MBA, PhD; Baylor College of Medicine
- Chew, Ben H, MD, MSc; University of Columbia
- Chinnery, Patrick F, BMedSci, MBBS, PhD; University of Cambridge
- Chiplunkar, Shwetha, MBBS; National Institute of Mental Health & Neurosciences
- Chiquet, Brett, DDS, PhD; UTHealth School of Dentistry at Houston
- Chitayat, David, MD; Mount Sinai Hospital
- Chmiel, James F, MD; Case Western Reserve University School of Medicine
- Chopra, Maya, MBBS; Boston Children's Hospital
- Chou, Stella T, MD; Children's Hospital of Philadelphia
- Chrestian, Nicolas, MD; CHU Laval–CHU de Québec
- Christiaans, Imke, MD, PhD; University Medical Center Groningen
- Christodoulou, John, MBBS, PhD; Murdoch Children's Research Institute
- Chrzanowska, Krystyna H, MD, PhD; The Children's Memorial Health Institute
- Chudley, Albert E, MD; University of Manitoba
- Chung, Brian HY, MD; University of Hong Kong
- Chung, Wendy K, MD, PhD; Columbia University
- Churpek, Jane E, MD, MS; University of Wisconsin School of Medicine and Public Health
- Ciapaite, Jolita, PhD; University Medical Center Utrecht
- Cimino, Theora, BS; University of California San Francisco
- Cirino, Allison L, MS; Brigham and Women's Hospital
- Clark, Dinah M, MS; Children's Hospital of Philadelphia
- Clarke, Lorne A, MD; University of British Columbia
- Clarke, Shoa L, MD, PhD; Stanford University School of Medicine
- Clayton, Peter T, MD; UCL Great Ormond Street Institute of Child Health
- Cleary, John Douglas, PhD; University of Florida
- Clericuzio, Carol, MD; University of New Mexico Health Sciences Center
- Cleveland, Don W, PhD; University of California San Diego
- Clinton, Catherine, MS; Boston Children's Hospital
- Coe, Bradley P, PhD; University of Washington School of Medicine
- Coelho, Teresa, MD, PhD; Centro Hospitalar Universitário do Porto
- Cogal, Andrea G, BS; Mayo Clinic
- Cohen, Bruce H, MD; Northeast Ohio Medical University
- Cohn, Daniel H, PhD; Cedars-Sinai Medical Center
- Colding-Jørgensen, Eskild, MD; University of Copenhagen
- Cole, Trevor RP, MB ChB; Birmingham Women's Hospital
- Collins, Debra L, MS; University of Kansas Medical Center
- Collins, Francis S, MD, PhD; National Institutes of Health
- Collins, Michael T, MD; National Institute of Dental and Craniofacial Research
- Colombo, Sophie, MS, PhD; Columbia University Irving Medical Center
- Coman, David, MBBS; Queensland Children’s Hospital
- Conant, Alex, BS; Children’s National Health System
- Concannon, Patrick J, PhD; University of Virginia
- Concolino, Daniela, MD; University "Magna Graecia"
- Conley, Mary Ellen, MD; University of Tennessee
- Connell, Fiona; Guy's Hospital
- Connor, Jessica A, MS; Counsyl, Inc
- Conta, Jessie, MS; Seattle Children's Hospital
- Conway, Gerard S, MD; University College London
- Conway, Robert, MD; Wayne State University
- Cook Shukla, Lola, MS; Indiana University School of Medicine
- Cook, Edwin H, MD; University of Illinois at Chicago
- Cook, Jared F, MA; Wake Forest School of Medicine
- Cooper, Edward C, MD, PhD; Baylor College of Medicine
- Cooper, Megan, MD, PhD; Washington University
- Copeland, William C, PhD; National Institute of Environmental Health Sciences
- Coppola, Antonietta, MD, PhD; Federico II University of Naples
- Coppola, Giangennaro, MD; University of Salerno
- Coppola, Giovanni, MD; University of California Los Angeles
- Coppola, Stephanie, BS; Jefferson Medical College
- Cormier-Daire, Valérie, MD, PhD; Paris Cité University
- Correa, Fernanda Azevedo, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Cortese, Andrea, MD, PhD; University College London
- Coryell, Jason, MS; Oregon Health and Science University
- Coucke, Paul, MD, PhD; Ghent University Hospital
- Coughlin, Curtis, MS; University of Colorado School of Medicine
- Couillard-Despres, Sebastien, PhD; Paracelsus Medical University Salzburg
- Coulter-Mackie, Marion B, PhD; British Columbia's Children's and Women's Hospital
- Coutinho, Paula, MD, PhD; Universidade do Porto
- Cowan, Jason, MS; University of Miami Miller School of Medicine
- Cox, Diane W, PhD; University of Alberta
- Cragun, Deborah, MS; University of Tampa
- Craigen, William J, MD, PhD; Baylor College of Medicine
- Crombez, Eric A, MD; Ultragenyx Pharmaceutical Inc
- Crosby, Andrew H, BSc, PhD; University of Exeter Medical School
- Crowley, Leon, MSc; King's College London
- Crowley, William F, MD; Massachusetts General Hospital
- Crow, Yanick J, BMedSci, MBBS, PhD; Central Manchester Foundation Trust University Hospitals
- Cruts, Marc, PhD; University of Antwerp
- Cruz Corchado, Johnny; University of Iowa
- Cruz, Vincent, MD, MS; DDC Clinic – Center for Special Needs Children
- Cubells, Joseph F, MD, PhD; Emory University School of Medicine
- Cudrici, Cornelia, MD; National Heart, Lung and Blood Institute
- Culver, Julie O Bars, MS; Fred Hutchinson Cancer Research Center
- Culver, Kathy, MS; Sutter Pacific Medical Foundation/California Pacific Medical Center
- Cunniff, Christopher M, MD; Weill Cornell Medical College
- Cunningham, Lea, MD; National Cancer Institute
- Cunningham, Michael L, MD, PhD; University of Washington Schools of Medicine and Dentistry
- Curiel, Julian, BS; Children’s National Health System
- Cutting, Garry R, MD; Johns Hopkins University
- D'Adamo, Maria Cristina, PhD; University of Malta
- D'Andrea, Alan, MD; Dana Farber Cancer Institute
- Da Silva, Jorge Diogo, MD, PhD; Santo Antonio University Hospital Center
- Dafsari, Hormos Salimi, MD; University of Cologne
- Dagli, Aditi I, MD; Orlando Health Arnold Palmer Hospital
- Daiger, Stephen P, PhD; University of Texas Health Science Center
- Dai, Hongzheng, PhD; Baylor College of Medicine
- Dalal, Ashwin, MD; Centre for DNA Fingerprinting and Diagnostics
- Dale, David C, MD; University of Washington Medical Center
- Daley, Shane M, MD; Mayo Clinic
- Dalton, Joline C, MS; Institute of Human Genetics
- Daly, Mary B, MD, PhD; Fox Chase Cancer Center
- Danek, Adrian, MD; Ludwig-Maximilians-Universität
- Danzi, Matt, PhD; University of Miami Miller School of Medicine
- Darras, Basil T, MD; Boston Children's Hospital / Harvard Medical School
- Das, Soma, PhD; University of Chicago
- Davenport, Sandra LH, MD; Sensory Genetics and Neurodevelopment
- Davies, Alexandra K, PhD; University of Cambridge
- Davis, Joie; NIH
- Day, John W, MD, PhD; Stanford University
- De Baere, Elfride, MD, PhD; Ghent University Hospital
- de Boer, Irene, MD; Leiden University Medical Center
- de Brouwer, Arjan PM, PhD; Radboud University Nijmegen Medical Center
- De Camilli, Pietro, PhD; Yale University School of Medicine
- de Castro, Luis F, PhD; National Institute of Dental and Craniofacial Research/NIH
- De Castro, Mauricio, MD; Keesler Air Force Base
- De Gobbi, Marco, MD, PhD; University of Torino
- de Graaff, Laura CG, MD, PhD; Erasmus Medical Center
- de Koning, Tom J, MD, PhD; Lund University
- de la Morena, M Teresa, MD; Seattle Children's Hospital
- de Leeuw, Nicole, PhD; Radboud University Medical Center
- De Leon, Deborah, MS; Columbia University Medical Center
- De León, Diva D, MD; University of Pennsylvania
- De Paepe, Anne, MD, PhD; Ghent University Hospital
- de Valles-Ibáñez, Guillem, BSc, MSc, PhD; University of Otago
- de Vernejoul, Marie-Christine, MD, PhD; Hopital Lariboisiere
- De Vivo, Darryl, MD; Columbia University
- De Voer, Richarda M, PhD; Radboud University Medical Center
- de Vries, Bert BA, MD, PhD; Radboud University Medical Center
- Deardorff, Matthew A, MD, PhD; Children's Hospital Los Angeles
- DeFelice, Magee, MD; Nemours Children's Health
- Dehner, Louis P; Washington University Medical Center
- del Gaudio, Daniela, PhD; University of Chicago
- Delatycki, Martin B, MBBS, PhD; Murdoch Childrens Research Institute
- Delettre-Cribaillet, Cécile, PhD; INM Hôpital Saint Eloi
- Delgado, Lisvania, BS; University of Texas - Medical Branch
- Dellefave-Castillo, Lisa, MS; University of Chicago
- Dell, Katherine MacRae, MD; Case Western Reserve University School of Medicine
- Demain, Leigh AM, PhD; University of Manchester and Manchester University NHS Foundation Trust
- Demarest, Scott, MD; University of Colorado
- Demirdas, Serwet, MD, PhD; Erasmus Medical Center
- Dempsey, Melissa A, MS; Parkview Health
- Demuth, Ilja, PhD; Charité – Universitätsmedizin Berlin
- Deneubourg, Celine, MSc; King's College London
- Depienne, Christel, PhD; Hôpital Pitié-Salpêtrière
- Der Kaloustian, Vazken M, MD; McGill University
- Derks, Terry GJ, MD, PhD; University Medical Center Groningen
- Derry, W Brent, PhD; The Hospital for Sick Children
- Desai, Jigar, PhD; Boston Children's Hospital
- Desnick, Robert J, MD, PhD; Icahn School of Medicine at Mount Sinai
- Deuitch, Natalie, MS; National Human Genome Research Institute
- Deutschländer, Angela B, MD; Mayo Clinic
- Devinsky, Orrin, MD; New York University Langone Medical Center
- Dgany, Orly, PhD; Felsenstein Medical Research Center, Beilinson Campus
- Dhamija, Radhika, MD; Mayo Clinic
- Di Donato, Nataliya, MD, PhD; Universitätsklinikum Carl Gustav Carus
- Di Giovanni, Giuseppe, PhD; Istituto Euro-Mediterraneo di Scienza e Tecnologia
- Di Gregorio, Eleonora, PhD; Città della Salute e della Scienza University Hospital
- Di Meo, Ivano, PhD; IRCCS Foundation Carlo Besta Neurological Institute
- Di Paola, Jorge, MD; Washington University School of Medicine
- Dias, Cristina, MD, PhD; King's College London
- Dias, Renuka, PhD; Birmingham Women's and Children's Hospital
- Diaz, George A, MD, PhD; Icahn School of Medicine at Mount Sinai
- Dib-Hajj, Sulayman D, PhD; Yale University School of Medicine
- Dichgans, Martin, MD, PhD; Ludwig-Maximilians-Universität München
- Dickerson, Kathryn E, MD; University of Texas Southwestern Medical Center
- Dietz, Harry C, MD; Johns Hopkins University School of Medicine
- DiGiovanna, John J, MD; National Cancer Institute
- Digweed, Martin, PhD; Charité – Universitätsmedizin Berlin
- DiMauro, Salvatore, MD; Columbia University Medical Center
- Dimmock, David P, MD; Children's Hospital of Wisconsin
- Dindot, Scott, PhD; Texas A&M University
- Diop-Bove, Ndeye, PhD; Albert Einstein College of Medicine
- Dirksen, Robert T, PhD; University of Rochester School of Medicine and Dentistry
- DiStasio, Andrew T, PhD; Nationwide Children's Hospital
- Disteche, Christine M, PhD; University of Washington
- DiStefano, Charlotte, PhD; University of California Los Angeles
- Dobson-Stone, Carol, DPhil; University of Sydney
- Dobyns, William B, MD; University of Minnesota
- Docherty, Louise Esther, BSc (Hons), PhD; Salisbury NHS Foundation Trust
- Doherty, Dan, MD, PhD; University of Washington
- Doherty, Emily S, MD; Carilion Clinic
- Doimo, Mara, PhD; University of Padova
- Dome, Jeffrey S, MD, PhD; Children's National Health System
- Dominik, Natalia, BSc, MSc; UCL Queen Square Institute of Neurology
- Dong, Hui-Jia; University of Florida College of Medicine
- Donkervoort, Sandra, MS; National Institute of Neurological Disorders and Stroke
- Donnai, Dian, MD; University of Manchester and St Mary's Hospital
- Doros, Leslie, MD; Children's National Medical Center
- Dorsey, Adrianne M; Children's National Medical Center
- Dotti, Maria Teresa, MD; University of Siena
- Douthitt Seibel, Gabrielle, ARNP, MN, MPH; Seattle Children's Hospital
- Douzgou, Sofia, MD, PhD; Haukeland University Hospital
- Dowling, James J, MD, PhD; Hospital for Sick Children
- Downs, Jenny, MSc, PhD; Telethon Kids Institute
- Drillings, Ian; Children's National Medical Center
- Driscoll, Daniel J, MD, PhD; University of Florida College of Medicine
- Drunat, Séverine, PharmD, PhD; APHP-Robert Debré University Hospital
- du Souich, Christèle, MSc; University of British Columbia
- Dua Puri, Ratna, MD; Sir Ganga Ram Hospital
- Dubois, Anna, BSc, MBChB; Royal Victoria Infirmary
- Dugan, Stefanie N, MS; BloodCenter of Wisconsin
- Duis, Jessica, MD, MS; Children's Hospital Colorado
- Duker, Angela, MS; Nemours Children’s Health
- Duley, John A, PhD; University of Queensland and Mater Research
- Dulski, Jaroslaw, MD, PhD; Medical University of Gdansk
- Dumitrescu, Alexandra M, MD, PhD; University of Chicago Medical Center
- Dunn, Clinton P, MD; University of Washington
- Dunoyer, Margaux, MD; Assistance Publique-Hôpitaux de Paris
- Dunwoodie, Sally, BSc, PhD; Victor Chang Cardiac Research Institute
- Dunø, Morten, PhD; Rigshospitalet
- Dupré, Nicolas, MD, MSc; Université Laval
- Dupuis, Lucie, MS, MSc; The Hospital for Sick Children and University of Toronto
- Durda, Kate M, MS; University of Iowa
- Durie, Peter R, MD; The Hospital for Sick Children, University of Toronto
- Durr, Alexandra, MD, PhD; Hôpital de la Pitié-Salpêtrière
- Dye, Thomas J, MD; Cincinnati Children's Hospital Medical Center
- Dykens, Elisabeth, PhD; University of California, Los Angeles
- Dyment, David A, DPhil, MD; Children's Hospital of Eastern Ontario
- Délot, Emmanuèle C, PhD; Children's National Hospital
- Earl, Rachel, PhD; University of Washington
- Ebens, Christen, MD, MPH; University of Minnesota
- Ebrahimi-Fakhari, Darius, MD, PhD; Harvard Medical School
- Eccles, Michael R, PhD; University of Otago
- Edvardsson, Vidar Orn, MD; The National University Hospital of Iceland
- Edward, Deepak P, MD; University of Illinois at Chicago
- Edwards, Corwin Q, MD; University of Utah School of Medicine
- Efthymiou, Stephanie, MSc, PhD; University College London
- Eggens, Veerle RC, MSc; University of Amsterdam
- Eichler, Evan E, PhD; University of Washington School of Medicine
- Eichler, Florian S, MD; Massachusetts General Hospital
- Ejaz, Resham, MD; McMaster Children's Hospital
- El-Gharbawy, Areeg, MD; Duke University Medical Center
- El-Hattab, Ayman W, MD; University of Sharjah
- Asparagine Synthetase Deficiency
- Deoxyguanosine Kinase Deficiency
- El-Hattab-Alkuraya Syndrome
- FARS2 Deficiency
- FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome
- Glycogen Storage Disease Type IV
- MELAS
- Mitochondrial DNA Maintenance Defects Overview
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- Systemic Primary Carnitine Deficiency
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
- Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
- Elango, Sonya, MS; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel
- Elizondo, Leah I; Baylor College of Medicine
- Elliott, Alison M, MS, PhD; University of British Columbia
- Ellison, David H, MD; Oregon Health & Science University
- Elsas, Louis J, MD; University of Miami
- Elsea, Sarah H, PhD; Baylor College of Medicine
- Else, Tobias, MD; University of Michigan
- Elsharkawi, Ibrahim, MD; Washington University
- Emanuel, Beverly S, PhD; Children's Hospital of Philadelphia
- Eng, Charis, MD, PhD; Cleveland Clinic
- Engelborghs, Sebastiaan, MD, PhD; University of Antwerp
- Engelen, Marc, MD, PhD; Amsterdam University Medical Centers
- England, Jade, MD, MSc; University of Montreal
- Engle, Elizabeth C, MD; Children's Hospital Boston
- Enns, Gregory M, MB ChB; Stanford University
- Erez, Ayelet, MD, PhD; Baylor College of Medicine
- Erro, Roberto, MD, PhD; University of Salerno
- Erwin, Angelika, MD, PhD; Cleveland Clinic
- Escolar, Maria L, MD, MS; Children's Hospital of Pittsburgh – UPMC
- Esposito, Dario, MD; Sapienza Università di Roma
- Evangelista, Teresinha, MD; Institut de Myologie
- Evans, D Gareth, MD; Manchester University Hospitals
- Evans, Kelly N, MD; Seattle Children's Hospital
- Everett, Lorraine A; National Human Genome Research Institute
- Evidente, Virgilio Gerald H, MD; Movement Disorders Center of Arizona
- Ewbank, Clifton, MD; University of California San Francisco
- Eymard-Pierre, Eleonore, PhD; Unité mixte de recherche 384 et Fédération de génétique humaine Auvergne
- Fabre, Alexandre, MD, PhD; La Timone Children's Hospital
- Fahim, Abigail T, MD, PhD; University of Michigan Medical School
- Fahrner, Jill A, MD, PhD; Johns Hopkins School of Medicine
- Falchetti, Alberto, MD; University Hospital of Careggi
- Falik Zaccai, Tzipora C, MD; Galilee Medical Center
- Falk, Marni J, MD; Children's Hospital of Philadelphia
- Fallatah, Wedad, MD; McGill University
- Fam, Hok Khim, BSc; University of British Columbia
- Fanin, Marina, PhD; University of Padova
- Fanto, Manolis, PhD; King's College London
- Fan, Yuting, MD; St Luke's Hospital
- Faqeih, Eissa, MD; King Fahad Medical City
- Farlow, Janice, BA, BS; Indiana University School of Medicine
- Farndon, Peter A, MD; Birmingham Women's Hospital
- Farrer, Matthew, PhD; University of British Columbia
- Fasham, James, BSc, MBChB, PhD; University of Exeter Medical School
- Fatemi, Ali, MD; Kennedy Krieger Institute
- Fauth, Christine, MD; Medical University of Innsbruck
- Fecarotta, Simona, MD; Federico II University
- Fechner, Patricia Y, MD; University of Washington
- Federico, Antonio, MD; University of Siena
- Feldman, Gerald L, MD, PhD; Wayne State University School of Medicine
- Feldman, Howard H, MD; University of British Columbia
- Felton, Thomas, MS; McLendon Clinical Laboratories
- Ferreira, Carlos R, MD; National Human Genome Research Institute
- Fete, Mary, MSN, RN; National Foundation for Ectodermal Dysplasias
- Field, Amanda, MPH; ResourcePath
- Figlewicz, Denise A, PhD; University of Michigan Medical School
- Filipovich, Alexandra H, MD; Cincinnati Children's Hospital
- Finanger, Erika, MD; Oregon Health and Science University
- Fink, John K, MD; University of Michigan
- Finucane, Brenda M, MS; Geisinger Health System
- Fishbein, Lauren, MD, PhD; University of Colorado School of Medicine
- Fisher, Simon E, DPhil; Max Planck Institute for Psycholinguistics
- Fish, Jennifer, PhD; University of Massachusetts Lowell
- Fiskerstrand, Torunn, MD, PhD; University of Bergen
- Fitzgibbon, Jude, PhD; Queen Mary University of London
- FitzPatrick, David R, MD; University of Edinburgh
- Flanagan, Maeve, BA; Weill Cornell Medical College
- Flanigan, Kevin M, MD; Nationwide Children's Hospital
- Fleming, Judith C, PhD
- Flemming, Kelly D, MD; Mayo Clinic
- Florenzano, Pablo, MD; National Institute of Dental and Craniofacial Research
- Fluharty, Arvan L, PhD; University of California, Los Angeles
- Fogli, Anne, PhD; UMR INSERM 1103
- Foley, A Reghan, MD; National Institute of Neurological Disorders and Stroke
- Fong, Jamie C, MS; University of California, San Francisco
- Fontaine, Bertrand, MD, PhD; Assistance Publique - Hôpitaux de Paris
- Foroud, Tatiana, PhD; Indiana University School of Medicine
- Forsythe, Elizabeth, BMedSci, MBBS; University College London
- Forsyth, RaeLynn, MD; Johns Hopkins University School of Medicine
- Forwood, Caitlin, BSc (Hons), MBBS (Hons); Sydney Children's Hospitals Network
- Foss, Kimberly, MS; Seattle Children's Hospital
- Foster, Rebecca, PhD; St Louis Children’s Hospital
- Fournier, Emmanuel, MD, PhD; Assistance Publique – Hôpitaux de Paris
- Fox, Mark H, MD; University of Iowa
- Franco, Brunella, MD; University of Naples Federico II
- Francomano, Clair A, MD; National Institutes of Health
- Franques, Jérôme, MD; Assistance Publique – Hôpitaux de Marseille
- Frantzen, Carlijn, MD; University Medical Center Groningen
- Frazier, Marsha L, PhD; UT MD Anderson Cancer Center
- Freeman, Alexandra F, MD; National Institutes of Health
- French, Tegan; Murdoch Children's Research Institute
- Frey, Beat M, MD; Swiss Red Cross
- Fridovich-Keil, Judith L, PhD; Emory University School of Medicine
- Friedman, Jan M, MD, PhD; University of British Columbia
- Friedman, Jennifer, MD; University of California San Diego
- Friedman, Thomas B, PhD; National Institute on Deafness and Other Communication Disorders
- Friez, Michael J, PhD; Greenwood Genetic Center
- Frontali, Marina, MD; Italian National Research Council
- Frühwald, Michael C, MD, PhD; University Medical Center Augsburg
- Fu, Jiao, MD; University of Chicago Medical Center
- Fujimura, Frank K, PhD; GMP Genetics, Inc
- Fukutake, Toshio, MD, PhD; Kameda Medical Center
- Fung, Jasmine LF; University of Hong Kong
- Furukawa, Yoshiaki, MD, PhD; Juntendo University Faculty of Medicine
- Gabriele, Michele, MS, PhD; European Institute of Oncology
- Gadea, Randi, MS; Children's Mercy Hospitals and Clinics
- Gafni, Rachel I, MD; National Institute of Dental and Craniofacial Research
- Gahl, William A, MD, PhD; National Human Genome Research Institute
- Galanello, Renzo, MD; Ospedale Regionale Microcitemie
- Gallagher, Emily R, MD, MPH; University of Washington
- Gallie, Brenda L, MD; Hospital for Sick Children
- Gallus, Gian Nicola, Dsci; University of Siena
- Gamache, Pierre-Luc, MD, PhD; CHU de Québec
- Gambello, Michael J, MD, PhD; Emory University School of Medicine
- Ganesh, Jaya, MD; Icahn School of Medicine at Mount Sinai
- Ganetzky, Rebecca, MD; Children's Hospital of Philadelphia
- Gangishetti, Prasanna K, MBBS; Mount Sinai School of Medicine
- Garber, Judy, MD, MPH; Dana Farber Cancer Institute
- Garbern, James Y, MD, PhD; University of Rochester Medical Center
- Garcia, Christine Kim, MD, PhD; Columbia University Medical Center
- García-Murias, María, MS; Centro de Investigación Biomédica en red de Enfermedades Raras
- Garden, Gwenn A, MD, PhD; University of Washington
- Gardner, Kathy Lou, MD; University of Pittsburgh
- Gardner, RJM, MB ChB; University of Otago
- Garland, Emily M, PhD; Vanderbilt University Medical Center
- Gasior, Maciej, MD, PhD; George Washington University School of Medicine
- Gassner, Christoph, PhD; Swiss Red Cross
- Gatti, Richard A, MD; David Geffen School of Medicine at UCLA
- Gaudette, Mara, MS; Northwestern University Medical School
- Gaughan, Sommer, RD; Children's Hospital Colorado
- Gauvreau, Claudie, MD, MSc; Laval University
- Gazdagh, Gabriella, MD; University Hospital Southampton
- Gazda, Hanna T, MD, PhD; Harvard Medical School
- Gazzerro, Elisabetta, MD; Gaslini Institute
- Gear, Russell, MB ChB; Victorian Clinical Genetics Services
- Geberhiwot, Tarekegn, MD; University Hospitals
- Gelb, Bruce D, MD; Icahn School of Medicine at Mount Sinai
- German, James, MD; Weill Cornell Medical College
- Gertler, Tracy, MD, PhD; Children's Hospital of Chicago
- Geschwind, Daniel H, MD, PhD; University of California, Los Angeles
- Ghali, Neeti, MBChB, MD; London North West University Healthcare NHS Trust
- Ghosh, Partha S, MD; Boston Children's Hospital
- Ghosh, Rajarshi, PhD; National Institute of Allergy and Infectious Diseases
- Gibbs, Richard A, PhD; Baylor College of Medicine
- Gibson, K Michael, PhD; Washington State University Spokane
- Gibson, Ronald L, MD, PhD; University of Washington School of Medicine
- Gibson, William Thomas, MD, PhD; BC Children's Hospital
- Gidaro, Teresa, MD, PhD; Institut de Myologie, CNRS
- Gil-Peña, Helena, PhD; Hospital Universitario Central de Asturias
- Gilbert, Melissa A, PhD; Children's Hospital of Philadelphia
- Giles, Rachel H, PhD; University Medical Center Utrecht
- Gillis, David, MD; Hadassah Hebrew University Hospital
- Gimpel, Charlotte, MD; Heidelberg University
- Ginevic, Ilona, RD; Icahn School of Medicine at Mount Sinai
- Giovanni, Monica A, MS; Geisinger Health System
- Girirajan, Santhosh, MBBS, PhD; Pennsylvania State University
- Girisha, Katta Mohan, MD, PhD; Manipal Academy of Higher Education
- Giunta, Cecilia, PhD; University Children's Hospital
- Giusti, Francesca, MD, PhD; Villa Donatello Hospital
- Glaser, Benjamin, MD; Hadassah-Hebrew University Medical Center
- Glassford, Megan, MMSc; Emory University School of Medicine
- Glass, Ian, MBChB, MD; University of Washington
- Glinton, Kevin, MD, PhD; Baylor College of Medicine
- Gochuico, Bernadette R, MD; National Human Genome Research Institute
- Godfrey, Maurice, PhD; University of Nebraska Medical Center
- Gogineni, Kishore Sai, MSc; Kasturba Medical College, Manipal
- Golabi, Mahin, MD, MPH; San Francisco General Hospital
- Golas, Gretchen A, MS, RN; National Institutes of Health
- Gold-Von Simson, Gabrielle, BA, MD; NYU Medical Center
- Goldberg, Ethan M, MD, PhD; Children's Hospital of Philadelphia
- Goldberg, Y Paul, MBChB, PhD; Xenon Pharmaceuticals Inc
- Goldfarb, Lev G, MD; National Institute of Neurological Disorders and Stroke / NIH
- Goldin, Ehud, PhD; National Institutes of Health
- Goldman, I David, MD; Albert Einstein College of Medicine
- Goldstein, Amy, MD; Children's Hospital of Philadelphia
- Goldstein, David B, PhD; Columbia University Irving Medical Center
- Goldstein, Jennifer L, MS, PhD; University of North Carolina-Chapel Hill
- Gomes, Alicia, MS; University of Alabama
- Gomez-Ospina, Natalia, MD, PhD; Stanford University
- Gomez, Christopher M, MD, PhD; University of Chicago
- Gonzalez-Gandolfi, Christina X; Children's Hospital of Philadelphia
- Goodeve, Anne C, PhD; Sheffield Children's NHS Foundation Trust
- Goodman, Stephen I, MD; University of Colorado
- Goodnight, Scott H, MD; Oregon Health and Science University
- Goodspeed, Kimberly, MD; University of Texas Southwestern Medical Center
- Gordillo, Miriam, PhD; Mount Sinai School of Medicine
- Gordon, Christopher T, PhD; Institut Imagine
- Gordon, Kristiana, MD; St George’s University Hospitals
- Gordon, Leslie B, MD, PhD; Alpert Medical School of Brown University
- Gorell, Emily, DO, MS; University of Cincinnati College of Medicine
- Gorman, Gráinne S, MBBCh, PhD; Newcastle University
- Gorospe, J Rafael, MD, PhD; George Washington University School of Medicine
- Gosky, Michael, BS, MS; University of Pittsburgh
- Gospe, Sidney M, MD, PhD; University of Washington
- Gossye, Helena, MD; University of Antwerp
- Gottlieb, Bruce, PhD; McGill University
- Gottlob, Irene, MD; University of Leicester
- Goudy, Steven, MD; Vanderbilt University
- Goulet, Olivier, MD, PhD; Hôpital Necker-Enfants Malades
- Gouw, Launce G-C, MD, PhD; University of Utah School of Medicine
- Govindaraj, Periyasamy, PhD; National Institute of Mental Health & Neurosciences
- Graham, Brett, MD, PhD; Indiana University School of Medicine
- Graham, John M, MD, ScD; Cedars-Sinai Medical Center
- Graham, Rona K, PhD; University of Sherbrooke
- Grand, Katheryn L, MS; Children's Hospital of Philadelphia
- Grange, Dorothy Katherine, MD; Washington University School of Medicine
- Greally, Marie T, MD, MSc; Our Lady's Children's Hospital, Crumlin
- Greenbaum, Larry A, MD, PhD; Emory University
- Greenberg, Samantha, MPH, MS; UT Southwestern Medical Center
- Greenblatt, Danielle, MB ChB; Guy's and St Thomas' NHS Foundation Trust
- Greene, Carol L, MD; University of Maryland School of Medicine
- Green, Eric D, MD, PhD; National Human Genome Research Institute
- Greengard, Emily G, MD; University of Minnesota Masonic Children’s Hospital
- Green, Glenn Edward, MD; University of Michigan
- Green, Peter HR, MD; Columbia University Medical Center
- Gregersen, Pernille Axél, MD; Aarhus University Hospital
- Gregory, Allison, MS; Oregon Health & Science University
- Beta-Propeller Protein-Associated Neurodegeneration
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- MECR-Related Neurologic Disorder
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
- Pantothenate Kinase-Associated Neurodegeneration
- PLA2G6-Associated Neurodegeneration
- SLC39A14 Deficiency
- Grimaldi, Silvia, MD; Consorzio Siciliano di Riabilitazione – Associazione Italiana Assistenza Spastici (CSR-AIAS)
- Gripp, Karen W, MD; Alfred I duPont Hospital for Children
- Grishchuk, Yulia, PhD; Harvard Medical School
- Groffen, Alexander J, PhD; Amsterdam University Medical Center
- Gropman, Andrea L, MD; Children's National Health System
- Gros-Louis, François, PhD; Université Laval
- Gruber, Stephen B, MD, PhD; USC Norris Comprehensive Cancer Center
- Grzeschik, Karl-Heinz, PhD; Philipps-Universität
- Grünert, Sarah C, MD; Medical Center-University of Freiburg
- Guella, Ilaria, PhD; University of British Columbia
- Guerin, Andrea, MD; Queen's University
- Gunay-Aygun, Meral, MD; Johns Hopkins University School of Medicine
- Guo, Rose, DO; Cone Health
- Gupta, Karn, MD; Wake Forest University School of Medicine
- Gupta, Rajat, MD; Birmingham Women's and Children's Hospital
- Gupta, Sweta, MD; Indiana Hemophilia & Thrombosis Center
- Gurrola, Jose G, MD; University of Iowa
- Guttmacher, Alan E, MD; National Institutes of Health
- Günes, Nilay, MD; Istanbul University
- Haack, Tobias, MD; Helmholtz Zentrum & Technische Universität München
- Haan, J, MD, PhD; Leiden University Medical Center
- Haas-Givler, Barbara, MEd; Elwyn Training and Research Institute
- Hackman, Peter, PhD; University of Helsinki
- Hack, Remco, MD; Leiden University Medical Center
- Hahn, Angelika F, MD; Western University
- Haigh, Brendan, PhD; University of British Columbia
- Hain, Heather S, MS, PhD; Children's Hospital of Philadelphia
- Hainque, Bernard, PhD; Assistance Publique - Hôpitaux de Paris
- Hakim, Alan, BA, MA, MBBChir; Harley Street Clinic
- Hakola, Panu, MD, PhD; Niuvanniemi Hospital
- Haldeman-Englert, Chad R, MD; Fullerton Genetics Center
- Halpern, Gabrielle J, ChB, MB; Rabin Medical Center
- Haltia, Matti J, MD, PhD; University of Helsinki
- Hamdan, Fadi F, PhD; CHU Ste-Justine Research Center
- Hamel, Christian P, MD; INM Hôpital Saint Eloi
- Hamersma, Herman, MD; Flora Clinic
- Hamilton, Eline, MD; VU University Medical Center
- Hammer, Michael F, PhD; University of Arizona
- Hamosh, Ada, MD, MPH; Johns Hopkins University School of Medicine
- Hampel, Heather, MS; The Ohio State University
- Handley, Mark, PhD; University of Leeds
- Hanna, Michael G, BSc (Hons), MD; UCL Institute of Neurology Queen Square
- Hannibal, Mark C, MD, PhD; University of Michigan Medical School
- Hannig, Vickie L, MS; Vanderbilt Medical Center
- Hansen-Kiss, Emily, MA, MS; UTHealth School of Dentistry at Houston
- Hansen, C David, MD; University of Utah
- Hanson, Ellen, PhD; Boston Children's Hospital
- Hanson, Nancy, MS; University of Washington
- Harbison, Madeleine D, MD; Icahn School of Medicine at Mount Sinai
- Harlalka, Gaurav; St George's, University of London
- Harms, Matthew M, MD; Washington University School of Medicine
- Harris, Anne K, MPH; Childen's Minnesota
- Harris, James C, MD; Johns Hopkins University School of Medicine
- Harris, Peter C, PhD; Mayo Clinic
- Hartig, Monika, MD; Technische Universität München
- Hartka, Thomas R, MS; George Washington University School of Medicine
- Hartley, Taila, MSc; Children's Hospital of Eastern Ontario Research Institute
- Hart, P Suzanne, PhD; National Institutes of Health
- Harvengt, Pol, PhD; XLH Belgium
- Hasan, Sonia M, PhD; Kuwait University
- Hasselblatt, Martin, MD; University Hospital Münster
- Hathaway, Evan R, MS; Children's Hospital of Philadelphia
- Haviland, Isabel, MD; Boston Children's Hospital
- Hayashi, Masahiro, MD, PhD; Yamagata University
- Hayden, Michael R, ChB, MB, PhD; University of British Columbia
- Hayflick, Susan J, MD; Oregon Health & Science University
- Beta-Propeller Protein-Associated Neurodegeneration
- Fatty Acid Hydroxylase-Associated Neurodegeneration
- MECR-Related Neurologic Disorder
- Mitochondrial Membrane Protein-Associated Neurodegeneration
- Neurodegeneration with Brain Iron Accumulation Disorders Overview
- Pantothenate Kinase-Associated Neurodegeneration
- PLA2G6-Associated Neurodegeneration
- SLC39A14 Deficiency
- Hedera, Peter, MD, PhD; University of Louisville
- Hefner, Margaret A, MS; Saint Louis University School of Medicine
- Hegele, Robert A, MD; Western University
- Hehr, Ute, MD; Center for Human Genetics
- Heidlebaugh, Alexis R, ScM; Geisinger Health System
- Heiman, Meadow, MS; Indiana Hemophilia & Thrombosis Center
- Heimer, Gali, MD, PhD; Sheba Medical Center, Sackler School of Medicine
- Helbig, Ingo, MD; Children's Hospital of Philadelphia
- Helbig, Katherine L, MS; Children's Hospital of Philadelphia
- Helsmoortel, Céline, MSc; University of Antwerp
- He, Miao, PhD; University of Pennsylvania
- Hennekam, Raoul CM, MD, PhD; Academic Medical Center
- Hennermann, Julia B, MD, PhD; University Medical Center Mainz
- Henry, Marie-Louise, MS; University of Michigan
- Heppner, Jonathan, PhD; University of British Columbia
- Herbert, Mrudu, MD, MPH; University of Kentucky
- Herman, Gail Ellen, MD, PhD; Nationwide Children's Hospital
- Herman, Isabella, MD, PhD; Baylor College of Medicine
- Hermann, Andreas, MD, PhD; University Medical Center Rostock
- Hershberger, Ray E, MD; The Ohio State University
- Hershfield, Michael, MD; Duke University Medical Center
- Hershkovitz, Tova, MD; The Genetics Institute - Rambam Health Care Campus
- Heutink, Peter, PhD; Vrije Universiteit Medical Center
- Hicks, Debbie, PhD; University of Newcastle upon Tyne
- High, Frances A, MD, PhD; MassGeneral Hospital for Children
- Hildebrand, Michael S, PhD; University of Melbourne
- Hildebrandt, Friedhelm, MD; Boston Children’s Hospital
- Hill, D Ashley, MD; George Washington University School of Medicine
- Hing, Anne V, MD; Seattle Children's Hospital
- Hingorani, Melanie, MA, MBBS, MD; Moorfields Eye Hospital
- Hipp, Heather, MD; Emory University School of Medicine
- Hirano, Michio, MD; Columbia University Medical Center
- Hirano, Ryuki, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Hirose, Shinichi, MD, PhD; Fukuoka University
- Hirst, Jennifer, PhD; University of Cambridge
- Hisama, Fuki M, MD; University of Washington
- Hisaund, Michael, BSc; University of Leicester
- Hoang, Stephanie, MSc; University of Alberta Hospital
- Hobbs, William, MD, PhD; University of Washington
- Hobson, Grace M, PhD; Nemours Alfred I duPont Hospital for Children
- Ho, Carolyn, MD; Brigham and Women's Hospital
- Hodge, Jennelle, PhD; Cedars-Sinai Medical Center
- Hoffman, Erin P, MS; Littleton Adventist Hospital
- Hogarth, Penelope, MD; Oregon Health & Science University
- Ho, Gladys; The Children's Hospital at Westmead
- Holder-Espinasse, Muriel, MD, PhD; Guy's and St Thomas' NHS Trust
- Holder, J Lloyd, MD, PhD; Texas Children's Hospital
- Holland, Steven M, MD; National Institute of Allergy and Infectious Diseases - NIH
- Holm, Ida E, DMSc, MD; Aarhus University
- Hong, Kui, MD, PhD; Heart Institute of Nanchang University
- Hoogerbrugge, Nicoline, MD, PhD; Radboud University Medical Center
- Hooper, Amanda J, PhD; University of Western Australia
- Hoover-Fong, Julie E, MD, PhD; Johns Hopkins University
- Hopfer, Suellen, MS, PhD; Pennsylvania State University
- Hopkin, Robert J, MD; University of Cincinnati College of Medicine
- Hopkinson, Ian, BSc (Hons), MBChB, PhD; University College London
- Hopp, Katharina, PhD; Mayo Clinic - Minnesota
- Horsthemke, Bernhard, PhD; University of Essen
- Horvath, Anelia, PhD; National Institutes of Health
- Hosoi, Yasushi, MD; Hamamatsu University School of Medicine
- Ho, Stephanie KL, MD; Clinical Genetic Service, Department of Health
- Houck, Kimberly, MD; Baylor College of Medicine
- Houge, Gunnar, MD, PhD; Haukeland University Hospital
- Houlden, Henry, MD, PhD; University College London
- Howard, Heidi C, PhD; Radboud University Medical Center
- Howard, Vanessa C, MSN, RN; St Jude Children's Research Hospital
- Howe, James R, MD; University of Iowa Hospitals and Clinics
- Hoyme, H Eugene, MD; Sanford Children's Hospital
- Hoyos-Martinez, Alfonso, MD; Baylor College of Medicine
- Hsiung, Ging-Yuek Robin, MD, MHSc; University of British Columbia and Providence Health Care
- Hsu, Amy P; National Institute of Allergy and Infectious Diseases
- Hudgins, Louanne, MD; Stanford University
- Huff, Vicki, PhD; University of Texas MD Anderson Cancer Center
- Hufnagel, Robert B, MD, PhD; National Eye Institute - NIH
- Hughes, Derralynn A, DPhil, MA; University College Medical School
- Huizing, Marjan, PhD; National Human Genome Research Institute
- Hull, Judith L, MS; Memorial Sloan-Kettering Cancer Center
- Hull, Peter R, MD, PhD; Dalhousie University
- Hulton, Sally-Anne, MD; Birmingham Children’s Hospital
- Hume, Stacey, PhD; University of Alberta
- Hu, Mimi I, MD; The University of Texas MD Anderson Cancer Center
- Hundley, Rachel, PhD; Boston Children's Hospital
- Hunt, David, MBBS, PhD; Princess Anne Hospital
- Hunter, Alasdair GW, MD; Children's Hospital of Eastern Ontario
- Hunter, David G, MD, PhD; Children's Hospital Boston
- Hunter, Elizabeth, BS; UTHealth School of Dentistry at Houston
- Hunter, Jessica Ezzell, PhD; Kaiser Permanente Northwest
- Hunter, JM, PhD; Nationwide Children's Hospital
- Huntsman, David G, MD; University of British Columbia
- Hupertz, Vera, MD; Cleveland Clinic
- Huq, Mahbubul, MD, PhD; University of British Columbia
- Hurley, R Morrison, MD; British Columbia's Children's and Women's Hospital
- Hurst, Anna CE, MD, MS; University of Alabama at Birmingham
- Huryn, Laryssa A, MD; National Eye Institute
- Huston, Haley, BS; Bloodworks Northwest
- Hutchinson, Anne L, BS; Children's Hospital of Philadelphia
- Hyde, Samuel M, MMSc; University of Texas MD Anderson Cancer Center
- Häberle, Johannes, MD; University Children’s Hospital Zurich
- Iacovazzo, Donato, MD; Queen Mary University of London
- Idkowiak, Jan, MD, PhD; University of Birmingham
- Idos, Gregory, MD, MS; City of Hope National Medical Center
- Ikeda, Marc D, MD; Children's Hospital of Pittsburgh
- Ikeda, Shu-ichi, MD, PhD; Shinshu University Hospital
- Ikeda, Yoshio, MD, PhD; Institute of Genetic Medicine
- Indo, Yasuhiro, MD, PhD; Kumamoto University Hospital
- Infante, Elena, MS; University of Pittsburgh
- Innes, A Micheil, BSc, MD; University of Calgary
- Innis, Jeffrey W, MD, PhD; University of Michigan
- Introne, Wendy J, MD; National Human Genome Research Institute
- Irons, Mira, MD; Children's Hospital Boston
- Irving, Melita, MBBS, MD; Guy's and St Thomas' NHS Trust
- Isaacs, Adrian M, DPhil; University College London
- Ison, Hannah E, MS; Stanford Center for Inherited Cardiovascular Disease
- Ito, Daisuke, MD, PhD; Keio University
- Iwasa, Yoichiro, MD, PhD; University of Iowa
- Jabs, Ethylin Wang, MD; Icahn School of Medicine at Mount Sinai
- Jackson, Andrew, PhD; University of Edinburgh
- Jackson, Michelle A, MS; University of Texas MD Anderson Cancer Center
- James, Aaron; University of California San Francisco
- James, Paula, MD; Queen's University
- Jankovic, Joseph, MD; Baylor College of Medicine
- Jansen, Anna C, MD, PhD; Universitair Ziekenhuis Brussel
- Janssens, Veerle, PhD; KU Leuven
- Jasperson, Kory W; University of Utah
- Jeffery, Steve, PhD; St George's University of London
- Jen, Joanna C, MD, PhD; Icahn School of Medicine at Mount Sinai
- Jeste, Shafali Spurling, MD; Children's Hospital Los Angeles
- Jethva, Reena, MD; St Christopher's Hospital for Children
- Jewett, Tamison, MD; Wake Forest University School of Medicine
- Jinnah, Hyder A, MD, PhD; Emory University
- Jirsa, Milan, MD, PhD; Institute for Clinical and Experimental Medicine
- Johannesen, Katrine, MD, PhD; Rigshospitalet
- Johann, Pascal, MD; German Cancer Consortium (DKTK)
- Johannsen, Peter, MD, PhD; Rigshospitalet
- Johnson-Kerner, Bethany, MD, PhD; University of California, San Francisco
- Johnson, Eric W, PhD; Barrow Neurological Institute
- Johnson, Judith, MS; Cincinnati Children's Hospital Medical Center
- Johnson, Kyle P, MD; Oregon Health and Science University
- Johnson, Maribel J, MA, RN; Puget Sound Blood Center
- Johnson, Rebecca H, MD; Seattle Children's Hospital
- Johnston, Jennifer J, PhD; National Human Genome Research Institute
- Jones, Mary-Kayt N, BA; University of Iowa Hospitals and Clinics
- Jordan, Elizabeth, MMSc; The Ohio State University
- Jorgenson, Ronald J, DDS, PhD; Consultant; formerly, President, Applied Genetics, Inc, Austin
- Josephson, Neil C, MD; Seattle Genetics
- Joshi, Nishtha; Baylor College of Medicine
- Jungbluth, Heinz, MD, PhD; King's College London
- Jung, Hans H, MD; University Hospital Zurich
- Jurgens, Julie A, PhD; Boston Children's Hospital
- Jurkat-Rott, Karin, MD, PhD; Ulm University
- Jägle, Herbert, MD; University of Regensburg
- Kaback, Michael M, MD; University of California, San Diego
- Kacena, Melissa A, PhD; Indiana University School of Medicine
- Kahle, Kristopher T, MD, PhD; Massachusetts General Hospital
- Kakhlon, Or, PhD; Hadassah-Hebrew University Medical Center
- Kalaydjieva, Luba, MD, PhD; The University of Western Australia
- Kaler, Stephen G, MD, MPH; The Ohio State University College of Medicine
- Kalfa, Theodosia A, MD, PhD; Cincinnati Children's Hospital Medical Center and University of Cincinnati Medical School
- Kalish, Jennifer M, MD, PhD; Children's Hospital of Philadelphia
- Kalscheuer, Vera, PhD; Max Planck Institute for Molecular Genetics
- Kamath, Binita M, MBBChir; Children's Hospital of Philadelphia
- Kamholz, John, MD, PhD; University of Iowa Hospitals & Clinics
- Kamihara, Junne, MD, PhD; Dana-Farber/Boston Children's Cancer and Blood Disorders Center
- Kamsteeg, Erik-Jan, MD, PhD; Radboud University Medical Center
- Kang, Jingqiong, PhD; Vanderbilt University Medical Center
- Kannu, Peter, MB ChB, PhD; The Hospital for Sick Children
- Kantarci, Sibel, PhD; Quest Diagnostics Nichols Institute
- Kapferer-Seebacher, Ines, DMD; Medical University of Innsbruck
- Kaplan, Julie D, MD; Cleveland Clinic Foundation
- Karczeski, Barbara A, MA, MS; Johns Hopkins University School of Medicine
- Karpati, George, MD; Montreal Neurological Institute
- Kashtan, Clifford E, MD; University of Minnesota
- Kaspar, Roger L, PhD; Transderm, Inc
- Katsanis, Sara Huston, MS; Northwestern University
- Kaurah, Pardeep, MSc, PhD; University of British Columbia
- Kaur, Parneet, MSc; Manipal Academy of Higher Education
- Kaur, Simranpreet, M Phil, MSc; University of Melbourne
- Kaya, Namik, PhD; King Faisal Specialist Hospital & Research Center
- Kaylor, Julie, MS; Arkansas Children's Hospital
- Kayser, Michael A, DO; Center for Genetic Testing at Saint Francis Hospital
- Keats, Bronya JB, PhD; Louisiana State University Health Sciences Center
- Keegan, Catherine E, MD, PhD; University of Michigan
- Kelkar, Janhawi, MD; Icahn School of Medicine at Mount Sinai
- Kelley, Philip M, PhD; Boys Town National Research Hospital
- Kelly, Edward J, PhD; University of Washington
- Kelly, Thaddeus E, MD, PhD; University of Virginia Hospital
- Keppler-Noreuil, Kim, MD; University of Wisconsin School of Medicine and Public Health
- Kerrigan, John F, MD; Phoenix Children's Hospital
- Khaikin, Yannay, BSc; The Hospital for Sick Children
- Khan, Sadiya S, MD; Northwestern University Feinberg School of Medicine
- Khaytin, Ilya, MD, PhD; Northwestern University
- Kibrom, Sara, MD; Stanford University School of Medicine
- Kidd, Kendrah, MS; Wake Forest University School of Medicine
- Kimberling, William J, PhD; Boys Town National Research Hospital
- Kimonis, Virginia, MD; University of California Irvine Medical Center
- Kinsley, Lisa, MS; Northwestern University Feinberg School of Medicine
- Kirk, Jessica, BS; Yale University School of Medicine
- Kirmani, Salman, MBBS; Aga Khan University
- Kirschner, Lawrence, MD, PhD; The Ohio State University Comprehensive Cancer Center
- Kishnani, Priya S, MD; Duke University Medical Center
- Kish, Stephen, PhD; University of Toronto
- Klaiman, Cheryl, PhD; Emory University School of Medicine
- Klar, Aharon, MD; Hebrew University
- Klasson, Timothy D, BSc; University Medical Center Utrecht
- Kleefstra, Tjitske, MD, PhD; Radboud University Medical Center
- Klein-Tasman, Bonita P, PhD; University of Wisconsin-Milwaukee
- Klein, Christine, MD; University of Lübeck
- Klein, Christopher J, MD; Mayo Clinic
- Klein, Pierre, MSc; Université Pierre et Marie Curie
- Klein, Roger D, JD, MD; Cleveland Clinic
- Klein, Steven D, MD, PhD; Children's Hospital of Philadelphia
- Kleta, Robert, MD, PhD; National Institutes of Health
- Kline, Antonie D, MD; Greater Baltimore Medical Center
- Kloeckener-Gruissem, Barbara, PhD; University of Zurich and ETH Zurich
- Klopstock, Thomas, MD; University Hospital, LMU Munich
- Kmiec, Tomasz, MD; Children’s Memorial Health Institute
- Kmoch, Stanislav, PhD; Charles University
- Knappskog, Per Morten, PhD; Haukeland University Hospital
- Knight Johnson, Amy, MS; University of Chicago
- Knisely, AS, MD; Medizinische Universität Graz
- Knoers, Nine, MD, PhD; University Medical Center Groningen
- Knowles, Joshua W, MD, PhD; Stanford Center for Inherited Cardiovascular Disease
- Knowles, Michael R, MD; University of North Carolina at Chapel Hill
- Kobayashi, Keiko, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Koenekoop, Robert K, MD, PhD; McGill University Health Center
- Koene, Saskia, MD, PhD; Leiden University Medical Center
- Koenig, Mary Kay, MD; McGovern Medical School
- Koenig, Michel, MD, PhD; Université de Montpellier
- Kohlhase, Jürgen, MD; SYNLAB Center for Human Genetics
- Kohlmann, Wendy, MS; University of Michigan Health System
- Kohl, Susanne, MSc, PhD; Institute for Ophthalmic Research
- Kolevzon, Alexander, MD; Icahn School of Medicine at Mount Sinai
- Konkle, Barbara A, MD; University of Washington
- Konno, Takuya, MD, PhD; Niigata University
- Koolen, David A, MD, PhD; Radboud University Medical Center
- Kool, Marcel, PhD; German Cancer Consortium (DKTK)
- Kooy, Frank, PhD; University of Antwerp
- Korbonits, Márta, MD, PhD; Queen Mary University of London
- Kordes, Uwe, MD; University Medical Center Hamburg – Eppendorf
- Korf, Bruce R, MD, PhD; University of Alabama at Birmingham
- Kornak, Uwe, MD, PhD; Universitätsmedizin Göttingen
- Koskiniemi, Marja-Leena, MD, PhD; University of Helsinki
- Kostic, Ana, PhD; Icahn School of Medicine at Mount Sinai
- Kowdley, Kris V, MD; Virginia Mason Medical Center
- Koy, Anne, MD; University of Cologne
- Kraemer, Kenneth H, MD; National Cancer Institute
- Krahn, Katherine Nash, MS; University of Iowa
- Krajewski, Karen, MS; Wayne State University School of Medicine
- Kranc, Kamil R, DPhil, MD; Queen Mary University of London
- Krantz, Ian D, MD; The Children's Hospital of Philadelphia
- Krasnewich, Donna M, MD, PhD; National Institutes of Health
- Krause, Amanda, MBBCh, PhD; University of the Witwatersrand
- Krey, Ilona, MD; Univeristy of Leipzig Medical Center
- Kriek, Marjolein, MD, PhD; Leiden University Medical Center
- Kronn, David F, MD; New York Medical College
- Kruer, Michael C, MD; University of South Dakota Sanford School of Medicine
- Kruszka, Paul, MD, MPH; GeneDx
- Kucine, Nicole, MD, MS; Weill Cornell Medicine
- Kuhlenbäumer, Gregor, MD, PhD; University of Kiel
- Kuiper, Roland P, PhD; Princess Máxima Center for Pediatric Oncology
- Kujovich, Jody L, MD; Oregon Health and Science University
- Kumar, Ajith V, MD; Great Ormond Street Hospital
- Kumar, Anil; University of Leicester
- Kumaran, Neruban, BSc, MBBS; University College London
- Kumble, Smitha, MBBS; Murdoch Children's Research Institute
- Kupfer, Gary, MD; Yale University School of Medicine
- Kurahashi, Hirokazu, MD, PhD; Aichi Medical University
- Kurian, Manju Ann, MBBChir, PhD; UCL Great Ormond Street Institute of Child Health
- Aromatic L-Amino Acid Decarboxylase Deficiency
- Beta-Propeller Protein-Associated Neurodegeneration
- DNAJC6 Parkinson Disease
- KMT2B-Related Dystonia
- PLA2G6-Associated Neurodegeneration
- SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures
- SLC39A14 Deficiency
- SLC6A3-Related Dopamine Transported Deficiency Syndrome
- Kurolap, Alina, MSc, RN; The Genetics Institute - Rambam Health Care Campus
- Kurth, Ingo, MD; Uniklinik RWTH Aachen
- Kurtz-Nelson, Evangeline C, PhD; University of Washington
- Kurtzman, Tracey L; University of Arizona Colleges of Medicine and Science
- Kushner, Jessica D, MS; Oregon Health and Science University
- Kutler, Mary Jo, DO; The Snyder-Robinson Foundation
- Kutsche, Kerstin, PhD; University Medical Center Hamburg-Eppendorf
- Kälviäinen, Reetta, MD, PhD; Kuopio University Hospital
- Kölker, Stefan, MD; University Hospital Heidelberg
- König, Arne, MD; Philipps-Universität
- Küry, Sébastien, DVM, PhD; Service de Génétique médicale – CHU
- La Spada, Albert R, MD, PhD; University of California Irvine School of Medicine
- Labrador, Emma, RN; Connecticut Children’s Medical Center
- Lacau St Guily, Jean, MD; Centre de Recherche en Myologie
- Lacbawan, Felicitas L, MD; Cleveland Clinic
- Lachlan, Katherine, MD; Southampton University
- Lai, Jennifer, MD; University of California San Francisco
- Laing, Nigel G, PhD; University of Western Australia
- Lai, Yi-Chen, MD; Baylor College of Medicine
- Laje, Gonzalo, MD; National Institute of Mental Health
- Lalani, Seema R, MD; Baylor College of Medicine
- Lal, Dennis, PhD; Cleveland Clinic
- Lam, Christina, MD; University of Washington
- Lamont, Phillipa, PhD; Royal Perth Hospital
- Lampe, Anne Katrin, MD; Western General Hospital
- Lamperti, Costanza, MD; IRCCS Foundation Carlo Besta Neurological Institute
- Lange, Dirk, PhD; University of British Columbia
- Langer, Arielle L, MD, MPH; Brigham and Women's Hospital
- Langer, Katherine, BA; Weill Cornell Medicine
- Lanpher, Brendan C, MD; Mayo Clinic
- Larizza, Lidia, MD; IRCSS Istituto Auxologico Italiano
- Larkin, Allyson, MD; Children’s Hospital of Pittsburgh
- Larsen Haidle, Joy, MS; North Memorial Hospital
- Larson, Austin, MD; University of Colorado
- LaRusch, Jessica, PhD; Ariel Precision Medicine
- LaSalle, Janine M, PhD; University of California Davis School of Medicine
- Laugel, Vincent, MD, PhD; Laboratory of Medical Genetics
- Laurent, Michaël R, MD, PhD; University Hospitals Leuven
- Law, Linda, MBA, MD; Advicenne
- Lawlor, Michael W, MD, PhD; Medical College of Wisconsin
- Lawrence, Jessica, MSc; Alberta Health Services
- Layman, Lawrence C, MD; Medical College of Georgia
- Le Goff, Carine, PhD; INSERM U781
- Leachman, Sancy A, MD, PhD; University of Utah
- Leach, Meganne E, MSN, PNP; Oregon Health and Science University
- LeBlanc, Shannon, MBBS; University of Melbourne
- Lebwohl, Benjamin, MD, MS; Columbia University
- Ledbetter, David H, PhD; Geisinger Health System
- Lee, Bo Hoon, MD; University of Rochester Medical Center
- Lee, Brendan H, MD, PhD; Baylor College of Medicine
- Lee, Chung U, MD; Stanford University
- Lee, Kristen N, MD; University of Michigan
- Lee, Mianne, MSc; Univeristy of Hong Kong
- Lee, Soohee, PhD; The New York Blood Center
- Lee, Thomas, MD, MSc; University of Ottawa
- Legare, Janet M, MD; University of Wisconsin
- Legius, Eric H, MD, PhD; University of Leuven
- LeGuern, Eric, MD, PhD; Hôpital de la Pitié-Salpêtrière
- Lehesjoki, Anna-Elina, MD, PhD; University of Helsinki
- Lehman, Christopher, MS; Geisinger Health System
- Lehmann-Horn, Frank, MD, MS, PhD; Ulm University
- Lehmberg, Kai, MD; University Medical Center Eppendorf
- Leiding, Jennifer W, MD; Johns Hopkins University
- Leigh, Margaret W, MD; University of North Carolina at Chapel Hill
- Leistritz, Dru F, MS; University of Washington Medical Center
- Lemire, Gabrielle, MD; Children's Hospital of Eastern Ontario Research Institute
- Lemke, Johannes R, MD; University of Leipzig Medical Center
- Lemmers, Richard JLF, PhD; Leiden University Medical Center
- Lemmink, Henny, PhD; University Medical Center
- Lenaers, Guy, PhD; Centre Hospitalier Universitaire
- Lentz, Jennifer J, PhD; Louisiana State University Health Sciences Center
- Leonard, Helen, MBChB, MPH; Telethon Kids Institute
- Leonard, Laura D, BA; Children’s Hospital of Philadelphia
- Leroy, Bart P, MD, PhD; Ghent University Hospital & Ghent University
- Leroy, Jules G, MD, PhD; Ghent University Hospital
- Leslie, Elizabeth J, PhD; Emory University
- Leslie, Nancy D, MD; Cincinnati Children's Hospital Medical Center
- Lesnik Oberstein, Saskia AJ, MD, PhD; Leiden University Medical Center
- Letra, Ariadne, DDS, MS, PhD; UTHealth School of Dentistry at Houston
- Leturcq, France, MD; Hôpital Cochin
- Leung, Alva, BS; California Pacific Medical Center
- Leung, Lai Ting, MD; Clinical Genetic Service, Department of Health
- Leuzzi, Vincenzo, MD; Sapienza Università di Roma
- Levade, Thierry, MD, PhD; Centre de Recherches en Cancérologie de Toulouse
- Leventer, Richard J, BMedSci, MBBS, PhD; Royal Children's Hospital
- Levine, Michael A, MD; Children's Hospital of Philadelphia
- Levy-Lahad, Ephrat, MD; Sharre Zedek Medical Center
- Levy, Amanda M, MSc; Rigshospitalet
- Levy, Harvey L, MD; Boston Children's Hospital
- Levy, Howard P, MD, PhD; Johns Hopkins University School of Medicine
- Levy, Rebecca V, BM BCh, MSc; Montefiore Medical Center
- Lewandowska, Magdalena, MD; Indiana Hemophilia & Thrombosis Center
- Lewis, David B, MD; Stanford University School of Medicine
- Lewis, Richard Alan, MD, MS; Baylor College of Medicine
- Lichter-Konecki, Uta, MD, PhD; UPMC Children’s Hospital of Pittsburgh
- Li, Chumei, MD, PhD; McMaster University
- Liebau, Max, MD; University of Cologne
- Lieske, John C, MD; Mayo Clinic
- Li, Frederick, MD; Dana Farber Cancer Institute
- Lilien, Marc, MD, PhD; University Medical Center Utrecht
- Li, Longchuan, PhD; Emory University School of Medicine
- Lim, Albert Z, MBBS (Hons); Newcastle University
- Lin, Angela E, MD; MassGeneral Hospital for Children
- Lindhurst, Marjorie J, PhD; National Institutes of Health
- Lindor, Noralane M, MD; Mayo Clinic
- Lindsay, Mark E, MD, PhD; MassGeneral Hospital for Children
- Lines, Matthew, MD, MSc; University of Calgary
- Links, Thera P, MD, PhD; University Medical Center Groningen
- Lin, Xi, MD, PhD; University of Texas Medical Branch
- Lippner, Elizabeth, MD; Ann & Robert H. Lurie Children's Hospital of Chicago
- Lipska-Zietkiewicz, Beata S, MD, PhD; Medical University of Gdansk
- Liu, Lawrence U, MD; Icahn School of Medicine at Mount Sinai
- Liu, Paul, MD, PhD; National Human Genome Research Institute
- Lloyd, Ricardo V, MD, PhD; Mayo Clinic
- Lochmüller, Hanns, MD; Children's Hospital of Eastern Ontario Research Institute
- Loeys, Bart L, MD, PhD; Antwerp University Hospital
- Lohmann, Dietmar R, MD; University Hospital Essen
- Lohmann, Katja, PhD; University of Lübeck
- Lohr, Jamie, MD; University of Minnesota Amplatz Children's Hospital
- Lo, Ivan FM, MD; Clinical Genetic Service, Department of Health
- Longoni, Mauro, MD; Harvard Medical School
- Loomes, Kathleen M, MD; University of Pennsylvania
- Lopez, Christina, BS; California Pacific Medical Center
- LoPiccolo, Mary Kate, MD; Icahn School of Medicine at Mount Sinai
- Lory, Philippe, PhD; Université de Montpellier 1 et 2
- Lossie, Amy C; University of Florida College of Medicine
- Lossos, Alexander, MD; Hadassah-Hebrew University Medical Center
- Lotze, Timothy, MD; Baylor College of Medicine
- Louie, Raymond J, PhD; Greenwood Genetic Center
- Lou, Shu, MD; University of British Columbia
- Loyd, James E, MD; Vanderbilt University Medical Center
- Lubarr, Naomi, MD; Beth Israel Medical Center
- Luchsinger, Kadi, BS; Dup15q Alliance
- Lucia, Alejandro, MD, PhD; European University of Madrid
- Lucking, Christoph, MD; Ludwig-Maximilians-University
- Lucky, Anne W, MD; Cincinnati Children's Hospital
- Luk, Ho-ming, MD; Hong Kong Children’s Hospital
- Lupski, James R, MD, PhD; Baylor College of Medicine
- Lusk, Laina, MMSc; Children's Hospital of Philadelphia
- Lyman, Benjamin, DO; LSU Health Science Center
- Lynch, Henry, MD; Creighton University Hereditary Cancer Center
- Lyons, Michael J, MD; Greenwood Genetic Center
- Lönnqvist, Tuula, MD, PhD; Helsinki University Hospital
- Lücke, Thomas, MD, PhD; Hannover Medical School
- Lüdecke, Hermann-Josef, PhD; Universitätsklinikum Düsseldorf
- Maas, Saskia, MD; University of Amsterdam
- Maccollin, Mia M, MD; Harvard Medical School/Massachusetts General Hospital
- Macdermott, Seamus, MD; Torbay Hospital
- MacDonald, Ian M, MDCM; University of Alberta
- MacDonald, Stella K, BSc; Children's Hospital of Eastern Ontario Research Institute
- MacFarland, Suzanne P, MD; Children’s Hospital of Philadelphia
- MacFarlane, Julie, MS; Xenon Pharmaceuticals Inc
- Machol, Keren, MD, PhD; Baylor College of Medicine
- Machowicz, Rafal, MD; Medical University of Warsaw
- Mackay, Deborah JG, MA, PhD; Salisbury NHS Foundation Trust
- MacKenzie, Alex, MD; Children's Hospital of Eastern Ontario
- MacLeod, Erin, PhD, RD; Children's National Hospital
- MacLeod, Heather, MS; University of Chicago
- Maconachie, Gail, BSc, PhD; University of Leicester
- Madhok, Sehajvir, MD; Columbia University Irving Medical Center
- Magenis, Ellen, MD; Oregon Health and Science University
- Magoulas, Pilar L, MS; Baylor College of Medicine
- Mahadeo, Kris M, MD, MPH; Albert Einstein College of Medicine
- Mah, Dean Y, MD, MSc; University of Alberta
- Maher, Eamonn R, MD; University of Cambridge
- Mahtani, Karishma, BSc; Atwal Clinic: Genomic & Personalized Medicine
- Maillard, Camille, PhD; Université de Paris
- Makaryan, Vahagn, MD; University of Washington Medical Center
- Mak, Christopher CY, MB ChB, PhD; University of Hong Kong
- Malfait, Fransiska, MD, PhD; Ghent University Hospital
- Malicdan, May Christine V, MD, PhD; National Human Genome Research Institute
- Malm, Dag, MD, PhD; Tromsø Center of Internal Medicine
- Mancini, Cecilia, PhD; University of Turin
- Mandell, Roseann; Massachusetts General Hospital
- Mannens, Marcel MAM, PhD; University of Amsterdam
- Manohar, Vaishnavi, MT; King's College London
- Manole, Andreea, BSc, PhD; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery
- Manoli, Irini, MD, PhD; National Human Genome Research Institute
- Mansour, Sahar; St George's, University of London
- Mao, Rong, MD; University of Utah
- Marafi, Dana, MD, MSc; Kuwait University
- Marazita, Mary L, PhD; University of Pittsburgh
- Marbach, Felix, MD; Heidelberg University
- Marcelis, Carlo LM, MD; Radboud University Nijmegen Medical Center
- Marchuk, Douglas, PhD; Duke University
- Marconi, Roberto, MD; Ospedale Misericordia
- Marcucci, Guido, MD; Ohio State University
- Margolis, Russell L, MD; Johns Hopkins University School of Medicine
- Marini, Francesca, PhD; Italian Foundation for Research on Bone Diseases
- Markovitz, Rebecca, MD, PhD; Baylor College of Medicine
- Mark, Paul, MD; Michigan State University
- Marquard, Jessica, MS; Cleveland Clinic
- Marquardt, Thorsten, Dr. med.; Universitätsklinikum Münster
- Marras, Connie, MD, PhD; University of Toronto
- Marshall, Jan D, MS; The Jackson Laboratory
- Marshall, Susan G, MD; University of Washington School of Medicine
- Marsh, Eric D, MD, PhD; Children's Hospital of Philadelphia
- Marsh, Rebecca A, MD; Cincinnati Children's Hospital
- Martin, Christa L, PhD; Geisinger Health System
- Martin, Donna M, MD, PhD; University of Michigan
- Martin, George M, MD; University of Washington
- Martin, Jack W, MD; The University of Texas MD Anderson Cancer Center
- Martin, Rick A, MD; Saint Louis University
- Martín, Bertha, PhD; University of Iowa
- Martín, Miguel A, PhD; Hospital 12 de Octubre Research Institute
- Marzin, Pauline, MD; Paris Cité University
- Mastrangelo, Mario, MD, PhD; Sapienza Università di Roma
- Mastrianni, James A, MD, PhD; University of Chicago
- Matalon, Reuben, MD, PhD; University of Texas Medical Branch
- Matern, Dietrich, MD, PhD; Mayo Clinic College of Medicine
- Mathews, Jennifer, MS; University of North Carolina at Chapel Hill
- Mathieu, Jean, MD; Complexe Hospitalier de la Sagamie
- Matilla-Dueñas, Antoni, BSc, MSc, PhD; Germans Trias i Pujol Research Institute
- Matsumoto, Naomichi, MD, PhD; Yokohama City University Graduate School of Medicine
- Matsuura, Tohru, MD; Jichi Medical University
- Mattison, Kari; Mayo Clinic - Minnesota
- Matton, Charlotte, MSc; Ghent University
- Mavrogiannis, Lampros A, DPhil, MSc; St James's University Hospital
- Mazzanti, Andrea, MD, PhD; ICS Maugeri
- Mazzeu, Juliana, PhD; University of Brasília
- McCarthy, Liam, MD; Birmingham Women's and Children's Hospital
- McCormick, Elizabeth M, MS; Children's Hospital of Philadelphia
- McCormick, Sally PA, PhD; University of Otago
- McCray, Brett A, MD, PhD; Johns Hopkins University School of Medicine
- McDaniel, D Olga, PhD; University of Mississippi Medical Center
- McDermott, Deborah A, MS; Consultant, Human Genetics and Genetic Counseling
- McDonald-McGinn, Donna M, MS; Children's Hospital of Philadelphia
- McDonald, Jamie, MS; University of Utah Medical Center
- McDonell, Laura M, MD, PhD; Dalhousie University
- McFarland, Robert, MA, MBBS, PhD; Newcastle University
- McFarquhar, Ashley, BSc; McGill University
- McGarrity, Thomas J, MD; Milton S Hershey Medical Center
- McGovern, Margaret M, MD, PhD; Stony Brook University School of Medicine
- McIntosh, Iain, PhD; American University of the Caribbean
- McLean, WH Irwin, DSc; University of Dundee
- McMullin, Mary Frances, MD; Queens University
- McNally, Elizabeth, MD, PhD; University of Chicago
- McNiven, Vanda, MD, MSc; McMaster Children's Hospital
- McTaggart, Kerry, MSc; National Institutes of Health
- McTague, Amy, MBChB; UCL Great Ormond Street Institute of Child Health
- Medin, Jeffrey A, PhD; Medical College of Wisconsin
- Medne, Livija, MS; Children's Hospital of Philadelphia
- Mefford, Heather C, MD, PhD; St Jude Children's Research Hospital
- Mehta, Atul, MA, MD; Royal Free Hospital and University College London School of Medicine
- Mehta, Parinda A, MD; Cincinnati Children's Hospital Medical Center
- Meijer, Inge A, MD, PhD; Université de Montréal
- Meisler, Miriam H, PhD; University of Michigan
- Mele, Caterina, Biol Sci D; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Mellerio, Jemima, BSc, MBBS, MD; Guy's and St Thomas' NHS Foundation Trust
- Mellgren, Anne Elisabeth Christensen, MD, PhD; University of Bergen
- Melo de Gusmao, Claudio, MD; Boston Children's Hospital
- Meltzer, Meira Rina, MA, MS; National Institutes of Health
- Mendonca, Berenice B, MD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Mendoza-Londono, Roberto, MD, MS; The Hospital for Sick Children and University of Toronto
- Menezes, Simone, BS; UTHealth School of Dentistry at Houston
- Mercier, Sandra, MD, PhD; Service de Génétique médicale – CHU
- Mercimek-Andrews, Saadet, MD, PhD; University of Alberta
- Merideth, Melissa A, MD, MPH; National Human Genome Research Institute
- Merkens, Louise S, PhD; Oregon Health & Science University
- Merla, Giuseppe; University of Naples Federico II
- Meroni, Germana, PhD; University of Trieste
- Merritt, J Lawrence, MD; Seattle Children's Hospital
- Mervis, Carolyn B, PhD; University of Louisville
- Messiaen, Ludwine, MD; University of Alabama
- Messinger, Yoav, MD; Children’s Hospitals and Clinics of Minnesota
- Meyer, Esther, PhD; UCL Great Ormond Street Institute of Child Health
- Miceli, Francesco, PhD; University of Naples Federico II
- Michaelides, Michel, BSc, MBBS, MD; University College London
- Michael, Julianne, MS; Spectrum Health
- Michals-Matalon, Kimberlee, PhD, RD; University of Houston
- Michaud, Jacques L, MD; CHU Ste-Justine Research Center
- Michelucci, Roberto, MD, PhD; Bellaria Hospital
- Milewicz, Dianna M, MD, PhD; University of Texas Health Science Center
- Miller, Daniel Guthrie, MD, PhD; Seattle Children's Hospital
- Miller, David T, MD, PhD; Boston Children's Hospital / Harvard Medical School
- Miller, Ian O, MD; Miami Children's Hospital
- Miller, Jennifer L, MD, MS; University of Florida College of Medicine
- Miller, Timothy M, MD, PhD; Washington University School of Medicine
- Miller, Vanessa Rangel, MS; Emory University
- Milliner, Dawn S, MD; Mayo Clinic
- Mills, Philippa B, PhD; UCL Great Ormond Street Institute of Child Health
- Milstone, Leonard M, MD; Yale University
- Miltenberger-Miltenyi, Gabriel, MD; Universidade de Lisboa
- Milunsky, Jeff Mark, MD; Center for Human Genetics, Inc
- Minetti, Carlo, MD; Gaslini Institute
- Min, Rogier, PhD; Amsterdam University Medical Center
- Min, Sang Hee, MD; Albert Einstein College of Medicine
- Miraglia del Giudice, Emanuele, MD; Second University of Naples
- Mirzaa, Ghayda, MD; Seattle Children's Research Institute
- Misko, Albert, MD, PhD; Massachusetts General Hospital / Harvard Medical School
- Mitchell, Amanda, MS; Oregon Health Sciences University
- Mitchell, Elyse, MS; Mayo Clinic
- Mitchell, John J, MD; McGill University
- Mitchel, Marissa W, MS; Geisinger Health System
- Mittaz-Crettol, Lauréane, PhD; Lausanne University Hospital
- Miyajima, Hiroaki, MD; Hamamatsu University School of Medicine
- Miyake, Christina Y, MD, MS; Baylor College of Medicine
- Moeschler, John, MD, MS; Geisel School of Medicine/Dartmouth College
- Mohassel, Payam, MD; National Institute of Neurological Disorders and Stroke
- Mohnach, Lauren, MS; University of Michigan
- Moi, Paolo, MD; Ospedale Regionale per le Microcitemie
- Monaco, Anthony P, MD, PhD; Tufts University
- Moog, Ute, MD; Heidelberg University
- Moore, Anthony T, BM BCh, MA; University of California San Francisco
- Moosajee, Mariya, BSc, MBBS, PhD; Moorfields Eye Hospital
- Morales Corado, J Andres, MBBS; Columbia University
- Morales, Ana, MS; The Ohio State University
- Moran, Rocio T, MD; The MetroHealth System
- Morava, Eva, MD, PhD; Mayo Clinic
- Moreau, Lisa, MS; Dana Farber Cancer Institute
- Moreira Marques, Juliana, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Moreira, Maria-Ceu, MSc, PhD; Professor of Molecular Biology and Genetics
- Morel Swols, Dayna, MS; University of Miami Miller School of Medicine
- Moreno-De-Luca, Daniel, BSc, MD; Brown University
- Moretti-Ferreira, Danilo, PhD; Sao Paulo State University
- Morgan, Angela, PhD; University of Melbourne
- Morimoto, Marie, PhD; National Human Genome Research Institute
- Morizono, Hiroki, PhD; Children's National Hospital
- Morleo, Manuela, PhD; Federico II University
- Mornet, Etienne, PhD; Centre Hospitalier de Versailles
- Morotti, Raffaella, MD; Yale School of Medicine
- Morris, Colleen A, MD; University of Nevada, Reno School of Medicine
- Morrison, Leslie, MD; University of New Mexico
- Morrow, Eric M, MD, PhD; Brown University
- Mortier, Geert R, MD, PhD; University Hospitals Leuven
- Mortimer, Peter, MD; St George's, University of London
- Morton, D Holmes, MD; Clinic for Special Children
- Moser, Ann B, BA; Kennedy Krieger Institute
- Moser, Hugo W, MD; Kennedy Krieger Institute
- Moskowitz, Samuel M, MD; Massachusetts General Hospital
- Motulsky, Arno G, MD; University of Washington
- Moufawad El Achkar, Christelle, MD; Harvard Medical School
- Mroczek, Magdalena, MD; University College London
- Mucha, Bettina E, MD; Sainte-Justine Hospital
- Muenke, Maximilian, MD; American College of Medical Genetics and Genomics
- Mullegama, Sureni V, PhD; Sam Houston State University
- Mulle, Jennifer Gladys, MHSc, PhD; Rutgers University
- Munns, Craig, MBBS, PhD; The Children's Hospital at Westmead
- Muram-Zborovski, Talia, MD; University of Utah
- Muraresku, Colleen, MS; Children's Hospital of Philadelphia
- Murdock, David, MD; Baylor College of Medicine
- Murphy, Melissa M, PhD; Emory University School of Medicine
- Murray, Jeffrey C, MD; University of Iowa
- Murray, Michael F, MD; Geisinger Health System
- Murray, Mitzi L, MA, MD; University of Washington
- Myers, Kasiani, MD; Cincinnati Children’s Hospital Medical Center
- Myers, Kenneth A, MD, PhD; University of Melbourne
- Myers, Scott M, MD; Geisinger Health System
- Mymin, David, MBBCh; University of Manitoba
- Myrie, Semone B, PhD; University of Manitoba
- Mäkitie, Outi, MD, PhD; University of Helsinki and Helsinki University Hospital
- Méneret, Aurélie, MD, PhD; Institut du Cerveau et de la Moelle épinière
- Möller, Birk; University of Cologne
- Müller, Juliane S, PhD; University of Cambridge
- Münchau, Alexander, MD; University of Lübeck
- Mütze, Ulrike, MD; University Hospital Heidelberg
- Nabais Sá, Maria J, MD, MPH, PhD; Radboud University Medical Center
- Nagamani, Sandesh C Sreenath, MBBS, MD; Baylor College of Medicine
- Nagappa, Madhu, MD; National Institute of Mental Health & Neurosciences
- Nagaraj, Chinmayee B, MS; Cincinnati Children's Hospital
- Nagy, Amanda, MD; Massachusetts General Hospital
- Nagy, Sara, MD, MSc; University College London
- Nahhas, Norah, MD; Children’s National Health System
- Naidu, Sakkubai, MD; Kennedy Krieger Institute
- Nakano, Taizo A, MD; Children's Hospital Colorado
- Nakaya Fletcher, Shelley, BS; BloodWorks Northwest
- Namavar, Yasmin, MSc; University of Amsterdam
- Nance, Martha A, MD; Hennepin County Medical Center
- Napolitano, Carlo, MD, PhD; ICS Maugeri
- Narayanan, Dhanya Lakshmi, MD; Kasturba Medical College, Manipal
- Narayan, Srinivas B, PhD; Children's Hospital of Philadelphia
- Narumi, Satoshi, MD, PhD; National Research Institute for Child Health and Development
- Nash, David R, MD; University of Pittsburgh
- Nasir, Ramzi, MD, MPH; Boston Children's Hospital
- Nattakom, Mary, BA; Columbia University
- Navas, Placido, PhD; Universidad Pablo de Olavide
- Naylor, Rochelle, MD; University of Chicago
- Need, Anna, PhD; Imperial College London
- Neilan, Edward G, MD, PhD; Harvard Medical School
- Neiman, Aaron, PhD; Stony Brook University
- Neira-Fresneda, Juanita, MD; Baylor College of Medicine
- Nelson, Adam, MBBS; Cincinnati Children's Hospital Medical Center
- Nelson, David L, PhD; Baylor College of Medicine
- Nemes, Karolina, MD, PhD; University Medical Center Augsburg
- Nemeth, Andrea H, DPhil; Churchill Hospital and Institute of Molecular Medicine
- Nesterova, Galina, MD; NIH
- Netchine, Irene, MD, PhD; Hôpital Armand Trousseau
- Neufeld, Ellis J, MD, PhD
- Neuhaus, Emily, PhD; University of Washington
- Neuser, Sonja, MD; University of Leipzig Medical Center
- Newman, William G, MA, PhD; University of Manchester and Manchester University NHS Foundation Trust
- New, Maria I, PhD; Mount Sinai School of Medicine
- Nguyen, Matthew Huu, MD; University of New South Wales
- Nichols, Colin G, PhD; Washington University School of Medicine
- Nichols, Kim E, MD; St Jude Children's Research Hospital
- Nicholson, Garth A, MBBS, PhD; University of Sydney
- Nicklas, Janice A, PhD; University of Vermont
- Nicole, Sophie, PhD; Groupe Hospitalier Pitié-Salpêtrière
- Nicoli, Elena-Raluca, PharmR, PhD; National Human Genome Research Institute
- Nielsen, Jørgen E, MD, PhD; Rigshospitalet
- Nielsen, Maartje, MD, PhD; Leiden University Medical Center
- Nielsen, Troels T, MSc, PhD; Rigshospitalet
- Niewisch, Marena R, MD; National Cancer Institute, NIH
- Niinikoski, Harri, MD, PhD; University of Turku
- Nikali, Kaisu, MD; University College London
- Nikkel, Sarah M, MD; BC Children's Hospital
- Nillesen, Willy M, BSc; Radboud University Medical Center
- Nilssen, Øivind, PhD; University of Tromsø
- Nimkarn, Saroj, MD; Bumrungrad Hospital
- Nisbet, Alex F, BS; Children's Hospital of Philadelphia
- Nishi, Mirian Yumie, PhD; Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
- Nishino, Ichizo, MD, PhD; National Institute of Neuroscience
- Nishio, Shin-ya, PhD; Shinshu University School of Medicine
- Nobile, Carlo; CNR Institute of Neuroscience
- Noonan, Kristin M, MD; The Medical College of Wisconsin
- Noon, Sarah Elizabeth, MS; The Children's Hospital of Philadelphia
- Noreau, Anne, MSc; University of Montreal
- Noris, Marina, PhD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Northrup, Hope, MD; McGovern Medical School
- Nowaczyk, Malgorzata JM, MD; McMaster University
- Nozaki, Hiroaki, MD, PhD; Niigata University
- Nunes Guimaraes, Izolda, PhD; Sao Paulo State University
- Nunes, Mark E, MD; Valley Children's Hospital
- Nunes, Virginia, PhD; University of Barcelona
- Nussbaum, Robert L, MD; Invitae Corporation
- Nyhan, William L, MD, PhD; University of California San Diego
- O'Brien, Kevin J, RN; National Human Genome Research Institute
- O'Ferrall, Erin, MD, MSc; Montreal Neurological Institute
- O'Neill, J Patrick, PhD; University of Vermont
- O'Toole, Edel, MD, PhD; University of London
- Ocansey, Sharon, BSc, MBBS, MSc; St George's University Hospital NHS Foundation Trust
- Oddoux, Carole, PhD; New York University School of Medicine
- Oetgen, Matthew, MD; Children's National Medical Center
- Oglesbee, Devin, PhD; Mayo Clinic
- Oishi, Kimihiko, MD; Jikei University School of Medicine
- Okialda, Krystle A, BS; University of Washington
- Okur, Volkan, MD; New York Genome Center
- Oliveira, Joao, MD, PhD; Federal University of Pernambuco
- Oliveira, Jorge, MSc, PhD; Universidade do Porto
- Oliver Petit, Isabelle, MD; Children's Hospital
- Olney, Ann Haskins, MD; University of Nebraska Medical Center
- Olson, Heather, MD, MS; Boston Children's Hospital
- Olson, Timothy S, MD, PhD; Children's Hospital of Philadelphia
- Ombrello, Amanda, MD; National Human Genome Research Institute
- Ong, Thida, MD; University of Washington School of Medicine
- Onodera, Osamu, MD, PhD; Niigata University
- Opal, Puneet, MD, PhD; Northwestern University Feinberg School of Medicine
- Ordonez, Jessica L, MS; Miami Cancer Institute - Baptist Health South Florida
- Origa, Raffaella, MD; Ospedale Pediatrico Microcitemico Antonio Cao
- Orrell, Richard W, BSc, MD; University College London
- Orsini, Joseph J, PhD; Wadsworth Center - New York State Department of Health
- Orten, Dana J, PhD; Boys Town National Research Hospital
- Orthmann-Murphy, Jennifer, MD, PhD; Johns Hopkins University
- Ortiz-Gonzalez, Xilma, MD, PhD; Children's Hospital of Philadelphia
- Osborne, Jenae, MS; University of Michigan
- Osborne, Lucy R, PhD; University of Toronto
- Oshima, Junko, MD, PhD; University of Washington
- Ostergaard, Elsebet, MD, PhD; National University Hospital Rigshospitalet
- Ostergaard, Pia; St George's, University of London
- Ostrer, Harry, MD; New York University School of Medicine
- Ostrowski, Philip J, MD; St George's University Hospitals NHS Foundation Trust
- Oswald, Gretchen L, MS; Johns Hopkins Medical Center
- Ottman, Ruth, PhD; Columbia University
- Ozelius, Laurie, PhD; Massachusetts General Hospital
- Paciorkowski, Alex R, MD; University of Rochester Medical Center
- Padiath, Quasar, MBBS, PhD; University of Pittsburgh
- Pagon, Roberta A, MD; University of Washington
- Paisey, Richard B, MD; Torbay Hospital
- Pallais, J Carl, MD, MPH; Massachusetts General Hospital
- Palmer, Elizabeth, MBBS, PhD; University of New South Wales
- Palmio, Johanna, MD, PhD; University of Tampere
- Paloneva, Juha, MD, PhD; Central Finland Hospital Nova
- Palsson, Runolfur, MD; The National University Hospital of Iceland
- Pal, Tuya, MD; Vanderbilt-Ingram Cancer Center
- Pandya, Arti, MBA, MD; Virginia Commonwealth University Health System
- Pankratz, Nathan D, PhD; Indiana University School of Medicine
- Papanikalaou, George, MD, PhD; National and Kapodistrian University of Athens
- Papapoulos, Socrates, MD, PhD; Leiden University Medical Center
- Pappas, John G, MD, MS; NYU Grossman School of Medicine
- Paquis-Flucklinger, Véronique, MD, PhD; Nice Hospital
- Parboosingh, Jillian S, PhD; University of Calgary
- Parente Freixo, João, MD; Universidade do Porto
- Pariani, Mitchel, MS; Stanford Center for Inherited Cardiovascular Disease
- Parisi, Melissa A, MD, PhD; National Institute of Child Health & Human Development
- Parker, Alasdair Patrick John, MA, MBBS, MD; Addenbrooke’s Hospital
- Parker, Charles J, MD; University of Utah School of Medicine
- Parkin, Kimberly; Massachusetts General Hospital
- Park, Julien H, Dr. med.; Universitätsklinikum Münster
- Park, Julie R, MD; Seattle Children's Hospital
- Parks, Sharie B, PhD; Oregon Health and Science University
- Parodi, Livia, PhD; Sorbonne Université – Pitié-Salpêtrière University Hospital
- Pascotto, Antonio, MD; Second University of Naples
- Pascual, Juan M, MD, PhD; University of Texas Southwestern Medical Center
- Passarge, Eberhard, MD; University of Essen
- Passemard, Sandrine, MD, PhD; APHP-Robert Debré University Hospital
- Pastores, Gregory M, MD; University College
- Patel, Heema, PhD; St George's, University of London
- Patel, Millan S, MD, MSc; University of British Columbia
- Patel, Neepa Jayant, MD; Henry Ford Health System
- Patel, Pragna I, PhD; Nagoya University Graduate School of Medicine
- Patel, Swati G, MD, MS; University of Colorado Anschutz Medical Center
- Patterson, Marc, MD; Mayo Clinic
- Patwari, Pallavi P, MD; Children's Memorial Hospital
- Pauli, Richard M, MD, PhD; University of Wisconsin
- Paulson, Henry, MD, PhD; University of Michigan Medical School
- Pearl, Phillip L, MD; George Washington University School of Medicine
- Pearson, Deborah A, PhD; McGovern Medical School
- Pearson, Toni S, MBBS, MD; Nationwide Children's Hospital
- Pecci, Alessandro, MD, PhD; IRCCS Policlinico San Matteo Foundation
- Peikert, Kevin, MD; University Medical Center Rostock
- Pellerin, David, MD, MSc; University College London
- Pelzer, Nadine, MD, PhD; Leiden University Medical Center
- Pena, Izabella, PhD; Massachusetts Institute of Technology
- Pencheva, Bojana, MMSc; Emory University School of Medicine
- Pendyal, Surekha, MEd, MSc, RD; Duke University Medical Center
- Pennesi, Mark E, MD, PhD; Casey Eye Institute - Oregon Health & Science University
- Penttilä, Sini, PhD; Fimlab Laboratories
- Pepin, Melanie G, MS; University of Washington Medical Center
- Percy, Melanie, PhD; Belfast City Hospital
- Perez Botero, Juliana, MD; BloodCenter of Wisconsin
- Perlman, Susan, MD; David Geffen School of Medicine at UCLA
- Peron, Angela, MD; San Paolo Hospital, Università degli Studi di Milano
- Perrier, Nancy D, MD; University of Texas MD Anderson Cancer Center
- Perry, Monique, MD; Clinical Center - National Institutes of Health
- Pescosolido, Matthew F, BA; Brown University
- Pessia, Mauro, PhD; Istituto Euro-Mediterraneo di Scienza e Tecnologia
- Petit, Florence, MD, PhD; CHU de Lille
- Petrovic, Aleksandra, MD; University of Washington
- Petrucelli, Nancie, MS; Karmanos Cancer Institute, Cancer Genetic Counseling Service
- Pfautsch, Miranda; Dr Kiran C Patel College of Medicine - Tampa Bay Campus
- Pfeffer, Gerald, MD, PhD; University of Calgary
- Pfendner, Ellen G, PhD; GeneDx, Inc
- Phelan, Katy, PhD; Florida Cancer Specialists & Research Institute
- Phillips, Ian R, PhD; Queen Mary, University of London
- Phillips, John, PhD; University of Utah School of Medicine
- Phillips, John A, MD; Vanderbilt University Medical Center
- Phillips, Lindsay, PhD; University of Calgary
- Phornphutkul, Chanika, MD; Brown University
- Phowthongkum, Prasit, MD; University of Washington
- Piard, Juliette, MD; CHRU de Besançon – Hôpital Saint-Jacques
- Picker, Jonathan D, MBChB, PhD; Boston Children's Hospital
- Pieke-Dahl, Sandra, PhD; Ohio State University, Department of Psychology
- Pierre, Germaine, MBBS, MSc; Bristol Royal Hospital for Children
- Pierson, Christopher R, MD, PhD; Nationwide Children's Hospital
- Pilarski, Robert, MS, MSW; The Ohio State University
- Pilz, Daniela T, MD, PhD; University Hospital of Wales
- Pinsky, Leonard, MD; McGill University
- Piperno, Alberto, MD; University of Milano-Bicocca
- Pithukpakorn, Manop, MD; Mahidol University
- Pitteloud, Nelly, MD; Massachusetts General Hospital
- Pitt, James, PhD; Murdoch Children's Research Institute
- Pizzo, Lucilla, MS; Pennsylvania State University
- Plaisier, Emmanuelle, MD, PhD; Hôpital Tenon / Université Pierre et Marie Curie
- Platzer, Konrad, MD; University of Leipzig Medical Center
- Plecko, Barbara, MD; Medical University of Graz
- Plitt, Gilman, MD; Cleveland Clinic
- Plon, Sharon E, MD, PhD; Baylor College of Medicine
- Plotkin, Scott, MD, PhD; Harvard Medical School and Massachusetts General Hospital
- Pober, Barbara R, MD; MassGeneral Hospital for Children
- Poke, Gemma, BSc, MBBS; University of Otago
- Porter, Christopher C, MD; Emory University School of Medicine
- Portigal, Cheryl L, MSc; University of British Columbia
- Potocki, Lorraine, MD; Baylor College of Medicine
- Powell, Lawrie, MD, PhD; University of Queensland
- Prabhu, Sandeep, MD; University of Oklahoma
- Prada, Carlos, MD; Ann & Robert H Lurie Children's Hospital of Chicago
- Prades, Silvia, PhD; Ataxia UK
- Prasad, Rathi, MBBS, PhD; Queen Mary University of London
- Prasad, Sai D, BS; University of Iowa Hospitals and Clinics
- Prasov, Lev, MD, PhD; University of Michigan Medical School
- Prasun, Pankaj, MD; Icahn School of Medicine at Mount Sinai
- Preston, Matthew K, MD; University of Washington
- Priori, Silvia G, MD, PhD; ICS Maugeri
- Prior, Thomas W, PhD; Case Western Reserve University
- Prokisch, Holger, PhD; Technische Universität München
- Pronk, JC, PhD; Vrije Universiteit Medical Center
- Proudlock, Frank A, BSc, MSc, PhD; University of Leicester
- Ptacek, Louis J, MD; University of California at San Francisco
- Puck, Jennifer M, MD; University of California San Francisco
- Puffenberger, Erik G, PhD; Clinic for Special Children
- Pulst, Stefan M, MD; University of Utah
- Putnam, Andrea, MS; New York Weill Cornell Center
- Puzriakova, Arina, BSc, MSc; UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery
- Pyeritz, Reed E, MD, PhD; Hospital of the University of Pennsylvania
- Pyle, Louise C, MD, PhD; Children’s National Medical Center
- Périé, Sophie, MD, PhD; Université Pierre et Marie Curie
- Quijano-Roy, Susana, MD, PhD; University of Versailles Saint Quentin-en-Yvelines
- Quinonez, Shane C, MD; University of Michigan
- Quintero-Rivera, Fabiola, MD; University of California, Irvine
- Quintáns, Beatriz, PhD; Centro de Investigación Biomédica en red de Enfermedades Raras
- Raas-Rothschild, Annick, MD; Sheba Medical Center, Tel HaShomer
- Rabin, Rachel, MS; NYU Grossman School of Medicine
- Rahman, Joyeeta, BSc; UCL Great Ormond Street Institute of Child Health
- Rahman, Nazneen, BM BCh, PhD; Institute of Cancer Research
- Rahman, Shamima, PhD; UCL Great Ormond Street Institute of Child Health
- Rai, Karan, BS; The Ohio State University
- Raininko, Raili, MD, PhD; Uppsala University
- Rajan, Neil, MBBS, PhD; Royal Victoria Infirmary
- Rajasekaran, Surender, MD, MPH; Spectrum Health
- Ramnitz, Mary Scott, MD; National Institute of Dental and Craniofacial Research
- Ramos, Eliana Marisa, PhD; University of California Los Angeles
- Rampoldi, Luca, PhD; Ospedale San Raffaele
- Rana, Huma Q, MD; Dana-Farber Cancer Institute
- Rand, Casey M, BS; Ann & Robert H Lurie Children's Hospital of Chicago
- Ranum, Laura PW, PhD; University of Florida
- Rappold, Gudrun A, PhD; Heidelberg University
- Raskind, Wendy H, MD, PhD; University of Washington Medical Center
- Ratisoontorn, Chootima, DDS, PhD; Chulalongkorn University
- Rauen, Katherine A, MD, PhD; University of California, Davis
- Rawlings, David J, MD; University of Washington
- Rawls-Castillo, Brandy, MS, RD; Baylor College of Medicine
- Raygada, Margarita, MSc, PhD; National Institutes of Health
- Raymond, Deborah, MS; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel
- Raymond, F Lucy, MD, PhD; University of Cambridge
- Raymond, Gerald V, MD; Johns Hopkins Hospital
- Ray, Peter N, PhD; The Hospital for Sick Children
- Rea, Hannah, PhD; University of Washington
- Redfield, Shelby, MS; Boston Children's Hospital
- Reding, Madeline Q, MPH, MS; Mayo Clinic
- Redman, Colvin M, PhD; The New York Blood Center
- Reehal, Tom; Sheffield University School of Medicine & Biomedical Sciences
- Rees, Mark I, PhD; Swansea University
- Refetoff, Samuel, MD; University of Chicago Medical Center
- Regalado, Ellen, MS; University of Texas Health Science Center at Houston McGovern Medical School
- Regier, Debra S, MD, PhD; Rare Disease Institute - Children’s National Hospital
- Rehder, Catherine, PhD; Duke University Medical Center
- Reichenberger, Ernst, PhD; UConnHealth
- Reijnders, Margot RF, MD; Radboud Unversity Medical Center
- Reilly, Mary M, MBBCh, MD; University College London
- Reinhart, Michaela, MD; Children's Hospital of Philadelphia
- Reischl-Hajiabadi, Anna, MD; University Hospital Heidelberg
- Reiter, Lawrence T, PhD; University of Tennessee Health Science Center
- Remuzzi, Giuseppe, MD; Istituto di Ricerche Farmacologiche Mario Negri–IRCCS
- Renaud, Mathilde, MD, PhD; CHRU de Nancy
- Rendtorff, Nanna Dahl, PhD; University Hospital / Kennedy Center
- Revah-Politi, Anya, MS; Columbia University Irving Medical Center
- Riazi, Sheila, MD; University of Toronto
- Richard, Gabriele, MD; GeneDx, Inc
- Richard, Pascale, PharmD, PhD; APHP, Sorbonne Université
- Richmond, Christopher Mark, MBBS; Murdoch Children’s Research Institute
- Richter, Andrea, PhD; Sainte-Justine Hospital, University of Montreal
- Richter, Mary K; National Foundation for Ectodermal Dysplasias
- Rich, Thereasa A, MS; University of Texas MD Anderson Cancer Center
- Rinaldo, Piero, MD, PhD; Mayo Clinic College of Medicine
- Rioseco-Camacho, Natalia, BA; University of California, Irvine
- Robbins, Emily; George Washington University School of Medicine
- Roberts, Amy E, MD; Children's Hospital Boston
- Roberts, Eve, MD; University of Toronto
- Robertson, David, MD; Vanderbilt University
- Robertson, Nic, PhD; University of Edinburgh
- Robertson, Stephen, DPhil; University of Otago
- Robin, Nathaniel H, MD; University of Alabama at Birmingham
- Robitaille, Yves, MD; Enfant-Jesus Hospital, Quebec City
- Roetto, Antonella, PhD; University of Torino
- Rogers, R Curtis, MD; Greenwood Genetic Center
- Rohrbach, Marianne, MD, PhD; University Children's Hospital
- Rohrer, Jonathan, PhD; UCL Queen Square Institute of Neurology
- Roifman, Maian, MD; University of Toronto
- Rolle, Myron, MD; Massachusetts General Hospital
- Rommens, Johanna M, PhD; The Hospital for Sick Children, University of Toronto
- Ronco, Pierre M, MD, PhD; Hôpital Tenon / Université Pierre et Marie Curie
- Roos, Peter, MD, PhD; Rigshospitalet
- Roscioli, Tony, MBBS, PhD; Sydney Children’s Hospital
- Rosenberg, Henry, MD; Malignant Hyperthermia Association of the United States
- Rosenberg, Stacy Lyn, MD; Children’s Hospital of Pittsburgh
- Rosenfeld, Jill, MS; Baylor College of Medicine
- Ross, Alison J, PhD; University College London
- Rossetti, Sandro, MD; Mayo Clinic
- Rossi, Alessandro, MD; University of Naples "Federico II"
- Rossi, Andrea, MD; G Gaslini Pediatric Institute and University of Genova
- Rossi, Christopher T, MD; Children’s National Medical Center
- Rossignol, Francis, MD; National Human Genome Research Institute
- Rosso, Sonia M, MD, PhD; Havenziekenhuis
- Ross, Owen A, PhD; Mayo Clinic
- Roston, Alexandra, MD; University of British Columbia
- Rothermel, Caroline E, BA; National Human Genome Research Institute
- Roth, Fanny, PhD; Centre de Recherche en Myologie
- Rouleau, Guy A, MD, PhD; McGill University
- Roullet, Jean-Baptiste, PhD; Washington State University
- Rouzier, Cécile, MD, PhD; Nice Hospital
- Roze, Emmanuel, MD, PhD; Assistance Publique-Hôpitaux de Paris
- Ruaud, Lyse, MD, PhD; APHP-Robert Debré University Hospital
- Rudnick, Sean, MD; Wake Forest University School of Medicine
- Ruivenkamp, Claudia, PhD; Leiden University Medical Center
- Rumbos Siurana, Elisa, MSc; University College London
- Rumsby, Gill, PhD; University College London Hospitals
- Ruppe, Mary D, MD; The Methodist Hospital
- Russell, Bianca, MD; Cincinnati Childen's Hospital
- Russell, Meaghan K, MPH; MassGeneral Hospital for Children
- Russman, Barry S, MD; Oregon Health and Science University
- Rutkowski, Anne, MD; Cure CMD
- Rutkowski, Timothy P, PhD; Emory University School of Medicine
- Rutledge, S Lane, MD; University of Alabama at Birmingham
- Rutten, Julie, MD, PhD; Leiden University Medical Center
- Ryan, Brigid, PhD; University of Auckland
- Ryan, Shannon, MSc; Montreal Children's Hospital
- Rydning, Siri Lynne, MD; University of Oslo
- Récan-Budiartha, Dominique, MD; Hopital Cochin
- Rødahl, Eyvind, MD, PhD; University of Bergen
- Saal, Howard M, MD; Cincinnati Children's Hospital Medical Center
- Saba, Julie, MD, PhD; UCSF / Benioff Children’s Hospital
- Sabet Rasekh, Parisa, MD; Children’s National Health System
- Sacharow, Stephanie J, MD; Boston Children's Hospital
- Sadleir, Lynette Grant, MB ChB; University of Otago
- Saenz-Ayala, Sofia, MD; Cincinnati Children's Hospital Medical Center
- Saffari, Afshin, MD; Harvard Medical School
- Saheki, Takeyori, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Sahota, Amrik, PhD; Rutgers University
- Saito, Kayoko, MD, PhD; Tokyo Women's Medical University School of Medicine
- Sajorda, Brian J, BA; Children's Hospital of Philadelphia
- Sako, Shuhei, MD; Jikei University School of Medicine
- Saldaris, Jacinta, PhD; Telethon Kids Institute
- Salgado, Carlos, MD; Stanford University School of Medicine
- Salih, Mustafa A, Dr Med Sci, MBBS, MD; King Saud University
- Salomons, Gajja S, PhD; Amsterdam University Medical Centers
- Salpea, Paraskevi, PhD; National Institutes of Health
- Salpietro, Vincenzo, MD; University College London
- Salter, Claire, BMedSci, MBBS; University of Exeter Medical School
- Salviati, Leonardo, MD, PhD; University of Padova
- Sambuughin, Nyamkhishig, PhD; Uniformed Services University
- Sampaio Moura, Natalia, BS; National Human Genome Research Institute
- Samson, Ricardo A, MD; Children’s Heart Center Nevada
- Sanchez Russo, Rossana, MD; Emory University School of Medicine
- Sandoval, Claudio, MD; New York Medical College
- Sands, Tristan T, MD, PhD; Columbia University Irving Medical Center
- Santani, Avni B, PhD; Children’s Hospital of Philadelphia
- Santen, Gijs, MD, PhD; Leiden University Medical Center
- Santos, Fernando, MD, PhD; University of Oviedo
- Santos, Manuela, MD; Centro Hospitalar Universitário do Porto
- Sanz, Maureen M, PhD; Molloy College
- Sapp, Julie C, ScM; National Institutes of Health
- Sardh, Eliane, MD, PhD; Karolinska University Hospital
- Sarquella-Brugada, Georgia, MD, PhD; Hospital Sant Joan de Deu
- Sarret, Catherine, MD, PhD; Centre Hospitalier Universitaire de Clermont-Ferrand
- Sas, David J, DO; Mayo Clinic
- Sassa, Shigeru, MD, PhD; The Rockefeller University
- Sattler, Elke C, MD; Ludwig Maximilian University of Munich
- Saulnier, Celine A, PhD; Neurodevelopmental Assessment & Consulting Services
- Saul, Robert A, MD; Greenwood Genetics Center
- Saunders-Pullman, Rachel, MD, MPH; Icahn School of Medicine at Mount Sinai / Mount Sinai Beth Israel
- Saunders, Carol J, PhD; University of Missouri
- Sauvé, Yves, PhD; University of Alberta
- Savage, Sharon A, MD; National Cancer Institute, NIH
- Savant, Adrienne, MD, MS; Tulane University School of Medicine
- Savarese, Marco, PhD; University of Helsinki
- Savarirayan, Ravi, MBBS, MD; University of Melbourne
- Savoia, Anna, PhD; Institute for Maternal and Child Health - IRCCS Burlo Garofolo
- Scaglia, Fernando, MD; Baylor College of Medicine
- Deoxyguanosine Kinase Deficiency
- MELAS
- Mitochondrial DNA Maintenance Defects Overview
- MPV17-Related Hepatocerebral Mitochondrial DNA Maintenance Defect
- SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria
- TANGO2 Deficiency
- TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form
- Scarpa, Maurizio, MD, PhD; Horst Schmidt Klinik
- Schaaf, Christian P, MD, PhD; Heidelberg University
- Schaefer, Amanda M, MS; University of Iowa Hospitals and Clinics
- Schaefer, Franz, MD; Heidelberg University
- Schanen, N Carolyn, MD, PhD; Dup15q Alliance
- Scharenberg, Andrew M, MD; University of Washington
- Scharer, Gunter, MD, PhD; Denver Genetic Laboratories, University of Colorado
- Scheffer, Ingrid E, MBBS, PhD; University of Melbourne
- Scheper, Gert C, PhD; Vrije Universiteit Medical Center
- Scherer, Gerd, PhD; University of Freiburg
- Scheuerle, Angela E, MD; University of Texas Southwestern Medical Center
- Schiffmann, Raphael, MD, MHSc; Baylor Scott & White Research Institute
- Schilsky, Michael, MD; Yale University School of Medicine
- Schimke, R Neil, MD; University of Kansas Medical Center
- Schimmenti, Lisa A, MD; Mayo Clinic
- Schindler, Alice, MS; National Institute of Neurological Disorders and Stroke
- Schinkel, Alfred, PhD; Netherlands Cancer Institute
- Schirwani, Schaida, MB ChB, MSc; Sheffield Children's NHS Foundation Trust
- Schlade-Bartusiak, Kamilla, PhD; University of Alberta
- Schlechter, Catherine, MS; Casey Eye Institute - Oregon Health Sciences University
- Schlis, Krysta, MD; Children's Hospital & Research Center Oakland
- Schlotawa, Lars, MD; University Medical Center Göttingen
- Schmale, Gregory A, MD; University of Washington
- Schmitz, Matthias, MD; University Medical School
- Schneider, Katherine A, MPH; Dana Farber Cancer Institute
- Schneider, Susanne A, MD, PhD; Ludwig Maximilian University
- Schneppenheim, Reinhard, MD, PhD; University Medical Center Hamburg – Eppendorf
- Schon, Katherine Rose, MA, MB ChB; Addenbrooke's Hospital
- Schoser, Benedikt, MD; Ludwig-Maximilians University
- Schreiber, John M, MD; Children's National Hospital
- Schreuder, Andrea B, MD, PhD; University Medical Center Groningen
- Schrier Vergano, Samantha A, MD; Children’s Hospital of the King’s Daughters
- Schroer, Richard, MD; Greenwood Genetic Center
- Schuchman, Edward H, PhD; Icahn School of Medicine at Mount Sinai
- Schuelke, Markus, MD; Charité - Universitätsmedizin Berlin
- Schultz, Kris Ann P, MD; Children’s Minnesota
- Schulz, Ansgar, MD; Universitätsklinik für Kinder- und Jugendmedizin
- Schulze, Jeanine, MS; Indiana University School of Medicine
- Schutte, Brian C, PhD; Michigan State University
- Schwartz, Charles E, MS, PhD; Greenwood Genetic Center
- Schwartz, David A, MD; University of Colorado Denver
- Schwartz, Mary E; PC Project
- Schwartz, Stuart, PhD; Laboratory Corporation of America
- Schwarz, Guenter; Cologne University
- Scott, C Ronald, MD; University of Washington
- Scott, Daryl A, MD, PhD; University of Utah
- Scriver, Charles R, MD; McGill University
- Scruggs, Brittni A, MD, PhD; Mayo Clinic
- Seabra, Miguel C, MD, PhD; Imperial College School of Medicine
- Sebastio, Gianfranco, MD; Federico II University of Naples
- Seckington, Rebecca; University of Queensland School of Medicine
- Sedel, Frederic, MD, PhD; MedDay Pharmaceuticals
- Sekijima, Yoshiki, MD, PhD; Shinshu University School of Medicine
- Selber, Paulo, MD; Royal Children’s Hospital Melbourne
- Seminara, Stephanie, MD; Massachusetts General Hospital
- Senaratne, T Niroshini, PhD; University of California, Los Angeles
- Sentner, Christiaan P, MD; University Medical Center Groningen
- Sequerra Amram Cohen, Ana, PhD; Icahn School of Medicine at Mount Sinai
- Sereda, Christina, MSc; National Institutes of Health
- Seront, Emmanuel, MD, PhD; Cliniques universitaires Saint-Luc
- Sethi, Sanjeev, MD, PhD; Mayo Clinic
- Shah, Hitesh, MS; Manipal Academy of Higher Education
- Shakkottai, Vikram, MD, PhD; University of Michigan Medical School
- Shapiro, Amy D, MD; Indiana Hemophilia & Thrombosis Center
- Sharer, J Daniel, PhD; University of Alabama at Birmingham
- Sharpe, Lindsay T, MA, PhD; Institute of Ophthalmology
- Shashi, Vandana, MD; Duke University
- Shaw, Adam, BMed, MD; Guy’s & Saint Thomas’ Hospitals
- Shaw, Chris, BS; University of Washington
- Shchelochkov, Oleg A, MD; National Institutes of Health
- Shearer, A Eliot, MD, PhD; Harvard Medical School
- Sheen, Volney L, MD, PhD; Harvard Medical School
- Sheffield, Val C, MD, PhD; University of Iowa College of Medicine
- Shelton, Celeste, MS, PhD; Ariel Precision Medicine
- Shen, Yiping, PhD; Boston Children's Hospital
- Shephard, Elizabeth A, MSc, PhD; University College London
- Sheppard, Sarah E, MD, PhD; Eunice Kennedy Shriver National Institute of Child Health and Human Development
- Sheridan, Eamonn, MD; University of Leeds
- Sherr, Elliott H, MD, PhD; University of California, San Francisco
- Shieh, Joseph TC, MD, PhD; University of California San Francisco
- Shih, Vivian E, MD; Massachusetts General Hospital
- Shiloh-Malawsky, Yael, MD; University of North Carolina at Chapel Hill
- Shimamura, Akiko, MD, PhD; Dana Farber Cancer Institute
- Shirvan, Leila, BA; National Human Genome Research Institute
- Shneider, Benjamin L, MD; University of Pittsburgh Medical Center
- Shoffner, John M, MD; Medical Neurogenetics, LLC
- Shohat, Mordechai, MD; Maccabi Genetic Institute
- Sholto-Douglas-Vernon, Carolyn, PhD; St George's University of London
- Shooner, Kerry, MS; Cincinnati Children's Hospital Medical Center
- Shukla, Anju, MD; Manipal Academy of Higher Education
- Shultz, Sarah, PhD; Emory University School of Medicine
- Shuman, Cheryl, MS; University of Toronto
- Siddique, Nailah, MSN, RN; Northwestern University Feinberg School of Medicine
- Siddique, Teepu, DSc (Hon), MD; Northwestern University Feinberg Medical School
- Siebert, Reiner, MD; Ulm University & Ulm University Medical Center
- Sieff, Colin, MBBCh; Boston Children's Hospital and Dana Farber Cancer Institute
- Sieni, Elena, MD; Meyer Children’s University Hospital
- Sieving, Paul A, MD, PhD; University of California, Davis
- Silber, Sherman J, MD; Saint Luke's Hospital
- Simons, Cas, PhD; University of Queensland
- Simpson, Kara L, MS; Children's National Hospital
- Sims, Katherine B, MD; Massachusetts General Hospital / Harvard Medical School
- Singal, Ashwani K, MD, MSc; University of South Dakota Sanford School of Medicine
- Singer, Kaitlyn, MS; Geisinger Health System
- Singh, Gautam K, MD; Central Michigan University School of Medicine
- Singh, Rani H, PhD, RD; Emory University School of Medicine
- Singh, Swati, MSc; Manipal Academy of Higher Education
- Sinnreich, Michael, MD, PhD; Montreal Neurological Institute
- Siper, Paige, PhD; Icahn School of Medicine at Mount Sinai
- Sisodiya, Sanjay, MD, PhD; University College London
- Sivakumar, Kumaraswamy, MD; St Joseph's Hospital and Medical Center
- Skefos, Catherine M, MA, MS; The University of Texas MD Anderson Cancer Center
- Skinner, Jonathan Robert, MB ChB, MD; University of Auckland
- Skraban, Cara M, MD; Children's Hospital of Philadelphia
- Slattery, Susan M, MD, MS; Northwestern University
- Slaugenhaupt, Susan A, PhD; MGH Center for Human Genetic Research / Harvard Medical School
- Slavotinek, Anne M, MBBS, PhD; University of California, San Francisco
- Sleasman, John W, MD; Duke University Medical Center
- Sloan, Jennifer L, MS, PhD; National Human Genome Research Institute
- Sloman, Melissa, BSc; Royal Devon University Healthcare NHS Foundation Trust
- Smaoui, Nizar, MD; GeneDx, Inc
- Smith-Simmer, Kelcy, MMSc; University of Wisconsin Carbone Cancer Center
- Smith, Adam C, MS; University of Toronto
- Smith, Ann CM, DSc (Hon), MA; National Institutes of Health
- Smith, CI Edvard, MD, PhD; Karolinska Institutet
- Smith, Edward R, MD; Boston Children's Hospital
- Smith, Frances JD, PhD; University of Dundee
- Smith, Janine, MD; National Institutes of Health
- Smith, Rebecca, MS; Geisinger Health System
- Smith, Richard JH, MD; University of Iowa Hospitals and Clinics
- Smith, Simone, MSc; Geisinger Health System
- Smith, Stephanie C, MS; University of Mississippi Medical Center
- Sniderman King, Lisa, MSc; Genzyme Corporation
- Snijders Blok, Lot, MD; Radboud University Medcal Center
- Snow-Bailey, Karen, PhD; Auckland City Hospital
- Snyder, Cara L, MS; CLS Genetic Consulting, LLC
- Soares, Ana Rita, MD; Santo Antonio University Hospital Center
- Sobacchi, Cristina, MS; Humanitas Clinical and Research Center
- Sobeih, Magdi M, MD, PhD; Boston Children's Hospital
- Sobrido, Maria J, MD, PhD; Fundación Pública Galega de Medicina Xenómica-SERGAS
- So, Jodi Y, BA; Stanford School of Medicine
- Soldovieri, Maria Virginia, PhD; University of Molise
- Soler-Alfonso, Claudia, MD; Baylor College of Medicine
- Solomon, Benjamin D, MD; National Institutes of Health
- Solomon, Beth, MS; National Institutes of Health
- Solomon, Cindy, MS; Myriad Genetic Laboratories, Inc
- Solomon, Sheila, MS; GeneDx, Inc
- Song, Yuan-Zong, MD, PhD; Jinan University
- Sotero de Menezes, Marcio A, MD; Swedish Neuroscience Institute
- Spacey, Sian, MD; University of British Columbia
- Sparks, Susan E, MD, PhD; Sanofi Genzyme
- Spence, Sarah J, MD, PhD; Children’s Hospital Boston
- Sperandeo, Maria Pia, PhD; Federico II University
- Spiegel, Ronen, MD; Emek Medical Center
- Spinner, Nancy B, PhD; Children's Hospital of Philadelphia
- Splawski, Igor, PhD; Assistant, Children's Hospital Boston
- Sprecher, Eli, MD, PhD; Tel Aviv Medical Center
- Squires, James E, MD, MS; UPMC Children’s Hospital of Pittsburgh
- Sreedharan, Jemeen, BSc, MBBS, PhD; King's College London
- Srivastava, Siddharth, MD; Boston Children's Hospital
- Stanich, Peter P, MD; The Ohio State University Wexner Medical Center
- Stanley, Charles A, MD; University of Pennsylvania
- Starr, Lois J, MD, PhD; University of Nebraska Medical Center
- Statland, Jeffrey M, MD; University of Kansas Medical Center
- Steeds, Rick, MD; University Hospitals
- Steeves, Marcie, MS; MassGeneral Hospital for Children
- Steinberg, Steven J, PhD; ARUP Laboratories
- Steiner, Robert D, MD; University of Wisconsin School of Medicine and Public Health
- Stein, Jennifer L, MS; Cleveland Clinic Genomic Medicine Institute
- Steinlein, Ortrud K, MD, PhD; Ludwig Maximilian University of Munich
- Steinman, Kyle J, MD; Seattle Children's Hospital
- Steinmann, Beat, MD; University Children's Hospital
- Stephens, Karen, PhD; University of Washington Medical Center
- Stephenson, John BP; Royal Hospital for Sick Children
- Sternberg, Damien, MD, PhD; Assistance Publique - Hôpitaux de Paris
- Sternen, Darci L, MS; Children's Hospital and Regional Medical Center
- Stevanin, Giovanni, PhD; Hôpital de la Pitié-Salpêtrière
- Stevens, Cathy A, MD; University of Tennessee College of Medicine
- Stevenson, David A, MD; Stanford University
- Stevenson, Roger E, MD; Greenwood Genetic Center
- Stewart, Blythe; University of Edinburgh
- Stewart, Douglas R, MD; National Cancer Institute
- Stojinski, Carol, MD, MS; Drexel University College of Medicine
- Stojkovic, Tanya, MD; Institut de Myologie
- Stokman, Marijn, MD, PhD; Radboud University Medical Centre
- Stolle, Catherine A, PhD; Children's Hospital of Philadelphia
- Stoller, James K, MD, MS; Cleveland Clinic
- Stone, Jeremy T, BSc; Mayo Clinic
- Storey, Elsdon, DPhil; Monash University
- Stover, Niamh B, MS; Banner Health
- Stratakis, Constantine A, DSc, MD; Foundation for Research & Technology Hellas
- Stratton, Pamela, MD; National Institute of Neurological Disorders and Stroke
- Strauss, Arnold W, MD; Cincinnati Children's Hospital Medical Center
- Strauss, Kevin A, MD; Clinic for Special Children
- Strober, Jonathan, MD; UCSF / Benioff Children’s Hospital
- Stuart, Helen M, MD; University of Manchester and Central Manchester University Hospitals NHS Foundation Trust
- Stumpel, Connie, MD, PhD; Academic Hospital Maastricht
- Stutterd, Chloe, MBBS; University of Melbourne
- Stöckler-Ipsiroglu, Sylvia, MBA, MD, PhD; British Columbia Children's Hospital
- Subramony, SH, MD; University of Florida
- Suchy, Sharon F, PhD; GeneDx, Inc
- Suit, Lindsey; University of California, San Francisco
- Sullivan, Bonnie, MD; Children’s Mercy Kansas City
- Sumegi, Janos, MD, PhD; Cincinnati Children's Hospital Medical Center
- Summar, Marshall L, MD; Children's National Health System
- Sumner, Charlotte J, MD; Johns Hopkins University School of Medicine
- Sun, Angela, MD; Seattle Children's Hospital
- Sundal, Christina, MD, PhD; Gothenburg University
- Suominen, Tiina, MSc; University of Tampere
- Superti-Furga, Andrea, MD; University of Lausanne
- Sutton, V Reid, MD; Baylor College of Medicine
- Suwannarat, Pim, MD; Faculty of Medicine, Ramathibodi Hospital
- Suzuki, Tamio, MD, PhD; Yamagata University
- Sveden, Abigail, MS; Boston Children's Hospital
- Swanson, Michael, PhD; University of Colorado School of Medicine
- Sweadner, Kathleen J, PhD; Massachusetts General Hospital
- Sweeney, Elizabeth, MB ChB, MD; Liverpool Women's Hospital
- Sweeney, William E, MS; Medical College and Children’s Health System of Wisconsin
- Sweetser, David A, MD, PhD; Massachusetts General Hospital
- Swoboda, Kathryn J, MD; Massachusetts General Hospital
- Sybert, Virginia P, MD; University of Washington
- Symoens, Sofie, PhD; Ghent University Hospital
- Synofzik, Matthis, MD; Center for Neurology & Hertie Institute for Clinical Brain Research
- Syx, Delfien, PhD; Ghent University Hospital
- Tabarki, Brahim, MD; Prince Sultan Military Medical City
- Tabti, Nacira, MD, PhD; Assistance Publique - Hôpitaux de Paris
- Taglialatela, Maurizio, MD, PhD; University of Naples Federico II
- Tait, Jonathan F, MD, PhD; University of Washington School of Medicine
- Takahashi, Hitoshi, MD, PhD; Niigata University
- Takahashi, Toshiaki, MD, PhD; National Hospital Organization – Sendai-Nishitaga Hospital
- Takasaki, Kaoru, MD; Children's Hospital of Philadelphia
- Takashima, Hiroshi, MD, PhD; Kagoshima University Graduate School of Medical and Dental Sciences
- Talbert, Janet L, MS; Vanderbilt University Medical Center
- Tallaksen, Chantal; Hôpital de la Pitié-Salpêtrière
- Taly, Arun B, MD; National Institute of Mental Health & Neurosciences
- Tamary, Hannah, MD; Schneider Children's Medical Center of Israel
- Tamburro, Joan, DO; Cleveland Clinic
- Tamura, Deborah, RN; National Cancer Institute
- Tanase-Nakao, Kanako, MD, PhD; National Research Institute for Child Health and Development
- Tan, Christopher, MS; University of Chicago
- Taniguchi, Toshiyasu, MD, PhD; Fred Hutchinson Cancer Research Center
- Tanpaiboon, Pranoot, MD; Children's National Medical Center
- Tan, Queenie K-G, MD, PhD; Mayo Clinic
- Tan, Weizhen, MD; MassGeneral Hospital for Children
- Tan, Wen-Hann, MBBS; Boston Children’s Hospital
- Tarleton, Jack C, PhD; Fullerton Genetics Center
- Tarrant, Teresa, MD; Duke University Medical Center
- Tartaglia, Marco, PhD; Bambino Gesú Children’s Hospital IRCSS
- Tatton-Brown, Katrina, BM BCh, MD; St George's University of London
- Tawana, Kiran, MB ChB, PhD; Queen Mary University of London
- Tawil, Rabi, MD; University of Rochester Medical Center
- Taylor, Annette K, MS, PhD; Laboratory Corporation of America Holdings
- Taylor, Cora M, PhD; Geisinger Health System
- Taylor, Kelly A, MS; Vanderbilt Medical Center
- Taylor, Matthew RG, MD, PhD; University of Colorado Anschutz Medical Campus
- Taylor, Robert W, PhD; Newcastle University
- Taylor, Rohan, BSc (Hons); St George's Healthcare NHS Trust
- Tchan, Michel, BMedSci, MBBS, PhD; Westmead Hospital
- Teebi, Ahmad, MD; Education City
- Tekendo-Ngongang, Cedrik, MD; National Human Genome Research Institute
- Tekin, Mustafa, MD; John P Hussman Institute for Human Genomics
- Temple, Isabel Karen, MD; Southampton University Hospitals NHS Trust
- Teng, Joyce, MD, PhD; Stanford School of Medicine
- Terry, Sharon F, MA; PXE International
- Terwindt, Gisela M, MD, PhD; Leiden University Medical Center
- Testa, Giuseppe, MA, MD, PhD; European Institute of Oncology
- Thabet, Farah, MD; Fattouma Bourguiba University Hospital
- Thauvin-Robinet, Christel, MD, PhD; University of Burgundy
- Thibert, Ronald L, DO, MSPH; Massachusetts General Hospital
- Thiel, Christian T; Friedrich-Alexander Universität Erlangen-Nürnberg
- Thiel, Moritz, MD; University of Cologne
- Thoene, Jess G, MD; University of Michigan
- Thomas, Julian, MD; Children's Hospital Orange County
- Thomas, Mervyn G, MBChB, PhD; University of Leicester
- Thomas, Rhys, PhD; Newcastle University
- Thomas, Shery; University of Leicester
- Thompson, Arthur R, MD, PhD; University of Washington
- Thompson, Reid, MD; Johns Hopkins University
- Thorburn, David R, PhD; Royal Children's Hospital and University of Melbourne
- Thorpe, Ryan K, MD; University of Iowa
- Thunell, Stig, MD, PhD; Karolinska Institute
- Tifft, Cynthia J, MD, PhD; National Human Genome Research Institute
- Tijssen, Marina AJ, MD; University Medical Center Groningen
- Tiller, George E, MD, PhD; Kaiser Permanente
- Timmerman, Vincent, PhD; Institute Born Bunge
- Timothy, Katherine W, BS; Harvard Medical School
- Tinkle, Brad T, MD, PhD; Advocate Children’s Hospital
- Tiranti, Valeria Sonia, PhD; IRCCS Foundation Carlo Besta Neurological Institute
- Tkachenko, Nataliya, MD; Santo Antonio University Hospital Center
- Todd, Peter K, MD, PhD; University of Michigan School of Medicine
- Tokuda, Takahiko, MD, PhD; Kyoto Prefectural University Hospital
- Tolar, Jakub, MD, PhD; University of Minnesota
- Tonduti, Davide, MD, PhD; V Buzzi Children's Hospital
- Toone, Jennifer, BSc; Children's and Women's Health Centre of British Columbia
- Torgerson, Troy, MD, PhD; Division of Infectious Diseases, Immunology, and Rheumatology
- Toriello, Helga V, PhD; Michigan State University
- Toro, Camilo, MD; National Human Genome Research Institute
- Toro, Jorge R, MD; National Institutes of Health
- Torres, Vicente E, MD, PhD; Mayo Clinic
- Toyoshima, Yasuko, MD, PhD; Agano Hospital
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- Trahms, Cristine, MS, RD; University of Washington
- Tran-Fadulu, Van, MS; University of Texas Medical School at Houston
- Tranebjærg, Lisbeth, MD, PhD; University of Copenhagen
- Trevisson, Eva, MD, PhD; University of Padova
- Trifiro, Mark A, MD; McGill University
- Trinh, Joanne, BSc; University of British Columbia
- Trollet, Capucine, PhD; Centre de Recherche en Myologie
- Trouillard, Oriane, BS; Institut du Cerveau et de la Moelle épinière
- Trzupek, Karmen M, MS; InformedDNA
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- Tsilou, Ekaterini, MD; Center for Biologics Evaluation and Research, US FDA
- Tsuji, Shoji, MD, PhD; University of Tokyo Graduate School of Medicine
- Tsunogai, Toshiki, MD; Jikei University School of Medicine
- Tuchman, Mendel, MD; Children's National Medical Center
- Turner, Joyce T, MS; Children’s National Hospital
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- Tümer, Zeynep, DMSc, MD, PhD; Rigshospitalet
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- Udd, Bjarne, MD, PhD; Tampere University Hospital
- Uhlig, Holm; NIHR Oxford Biomedical Research Centre
- Uitto, Jouni, MD, PhD; Thomas Jefferson University
- Umair, Muhammad, PhD; King Saud Bin Abdulaziz University for Health Sciences
- Unger, Sheila, MD; University of Lausanne
- Upadia, Jariya, MD; Tulane University School of Medicine
- Urban, Zsolt, PhD; University of Pittsburgh
- Urion, David K, MD; Boston Children's Hospital / Harvard Medical School
- Ursini, Matilde Valeria, PhD; Institute of Genetics and Biophysics - CNR
- Usami, Shin-ichi, MD, PhD; Shinshu University School of Medicine
- Uyanik, Gökhan, MD; Hanusch Hospital
- Vahidnezhad, Hassan, MSc, PhD; Pasteur Institute of Iran
- Vakkilainen, Svetlana, MD, PhD; University of Helsinki and Helsinki University Hospital
- Valdmanis, Paul N, PhD; University of Washington
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- Valentin, Ilia, MD; Heidelberg University
- Valle, Laura, PhD; Catalan Institute of Oncology
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- van Bon, Bregje WM, MD, PhD; Radboud University Medical Center
- Van Broeckhoven, Christine, DSc, PhD; University of Antwerp
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- Van den Veyver, Ignatia Barbara, MD; Baylor College of Medicine
- van der Crabben, Saskia N, MD, PhD; Amsterdam UMC
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- Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter
- CLCN2-Related Leukoencephalopathy
- Hypomyelination and Congenital Cataract
- Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- TUBB4A-Related Leukodystrophy
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- van der Sluijs, Pleuntje J, MSc; Leiden University Medical Center
- van der Zee, Julie, PhD; University of Antwerp
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- van Dijk, Tessa, MD, PhD; Leiden University Medical Center
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- van Leeuwaarde, Rachel S, MD, PhD; University Medical Center Utrecht
- Van Lierop, Antoon, MD, PhD; Leiden University Medical Center
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- Varon, Raymonda, PhD; Charité – Universitätsmedizin Berlin
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- Venditti, Charles P, MD, PhD; National Human Genome Research Institute
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- Vicart, Savine, MD; Assistance Publique – Hôpitaux de Paris
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- Vnencak-Jones, Cindy, PhD; GC Vanderbilt University Medical Center
- Vockley, Jerry, MD, PhD; University of Pittsburgh
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- Waguespack, Steven G, MD; University of Texas MD Anderson Cancer Center
- Wakefield, Emily, MS; Cincinnati Children’s Hospital Medical Center
- Waldman, Amy; Children's Hospital of Philadelphia
- Walker, Elaine F, PhD; Emory University
- Walker, Ruth H, MBBS, MD, PhD; Mount Sinai School of Medicine
- Walkovich, Kelly, MD; University of Michigan Medical School
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- Wang, Jing, MD; Baylor College of Medicine
- Wang, Julia, BS; Baylor College of Medicine
- Wang, Leo H, MD, PhD; University of Washington
- Wangler, Michael F, MD; Baylor College of Medicine
- Wang, Lisa L, MD; Baylor College of Medicine
- Wang, Raymond, MD; University of California, Irvine
- Wang, Zhao, MD; Beijing Friendship Hospital
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- Warman, Matthew L, MD; Boston Children's Hospital
- Wasserstein, Melissa P, MD; Albert Einstein College of Medicine
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- Waters, Michael F, MD, MS, PhD; Barrow Neurological Institute
- Wattendorf, Daniel J, MD; National Institutes of Health
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- Waxman, Stephen G, MD, PhD; Yale University School of Medicine
- Weaver, K Nicole, MD; Cincinnati Children’s Hospital Medical Center
- Weaver, W Curtis, BS; Geisinger Health System
- Webb, Bryn D, MD, PhD; Icahn School of Medicine at Mount Sinai
- Weber, Frank, MD, PhD; German Air Force Center of Aviation Medicine
- Weckhuysen, Sarah, MD, PhD; University of Antwerp
- Weemaes, Corry, MD, PhD; Radboud University Medical Center
- Weese-Mayer, Debra E, MD; Children's Memorial Hospital
- Wei, Chongjuan, PhD; University of Texas MD Anderson Cancer Center
- Weinstein, David A, MD, MMSc; University of Connecticut
- Weisfeld-Adams, James, MB ChB; Children's Hospital Colorado
- Weiss, Karin, MD; Technion-Israel Institute of Technology
- Weiss, Karl Heinz, MD; Salem Medical Center
- Weiss, Marjan M, MD, PhD; Leiden University Medical Center
- Weiss, Mitchell J, MD, PhD; St Jude Children’s Research Hospital
- Weisz Hubshman, Monika, MD, PhD; Rabin Medical Center
- Weksberg, Rosanna, MD, PhD; The Hospital for Sick Children
- Weleber, Richard G, MD; Casey Eye Institute of Oregon Health Sciences University
- Welsh, Holly I, MS; University of Missouri
- Wenger, David A, PhD; Thomas Jefferson University Hospital
- Wenger, Olivia K, MD; New Leaf Center
- Wenger, Tara L, MD, PhD; Seattle Children's Hospital
- Wensel, Christine, MS; DDC Clinic – Center for Special Needs Children
- Wenstrup, Richard, MD; Cincinnati Children's Hospital Medical Center
- Westbroek, Wendy, PhD; National Institutes of Health
- Weston, Michael D, MA; Boys Town National Research Hospital
- Wevers, Ron A, PhD; Radboud University Nijmegen Medical Center
- Whatley, Sharon D, MSc, PhD; University Hospital of Wales
- Whitcomb, David C, MD, PhD; University of Pittsburgh & University of Pittsburgh Medical Center
- White-Brown, Alexandre M, MSc; Children's Hospital of Eastern Ontario
- White, Colin T, MD; British Columbia's Children's and Women's Hospital
- White, Janson, PhD; Invitae Corporation
- White, Stormi; Emory University School of Medicine
- White, Susan M, MD; Victorian Clinical Genetics Service
- Whitman, Mary C, MD, PhD; Harvard Medical School
- Whitton, Chloe, BMed, MD; University of New South Wales
- Wider, Christian, MD; Centre Hospitalier Universitaire Vaudois
- Wieczorek, Dagmar, MD; Universitätsklinikum Düsseldorf
- Wierenga, Andrea, PhD; SIVOTEC Bioinformatics
- Wierenga, Klaas, MD; Mayo Clinic Florida
- Wieser, Thomas, MD; Fachkrankenhaus Jerichow
- Wiesner, Georgia L, MD, MS; Children's Hospital of Philadelphia
- Wilcox, William R, MD, PhD; Emory University School of Medicine
- Wildin, Robert S, MD; Oregon Health Sciences University
- Wilkie, Andrew OM, MA; University of Oxford
- Wilkin, Douglas J; Federal Bureau of Investigation
- Willemsen, Michèl, MD, PhD; Radboud University Medical Center
- Williams, Charles A, MD; University of Florida College of Medicine
- Williams, Denise, MD; Birmingham Women's and Children's Hospital
- Williams, Gretchen, BS; Children’s Hospitals and Clinics of Minnesota
- Williamson, Kathleen A, PhD; University of Edinburgh
- Wilson, Frederick H, MD, PhD; Harvard Medical School
- Winkler, Jürgen, MD; University Hospital Erlangen
- Winter, Robin M; Institute of Child Health
- Wise, Anastasia L, PhD; National Jewish Health and University of Colorado Denver
- Wissinger, Bernd, MSc, PhD; University of Tübingen
- Wiwattanadittakul, Natrujee, MD; Chiang Mai University
- Wlodarski, Marcin, MD, PhD; St Jude Children’s Research Hospital
- Wojcieszek, Joanne, MD; Indiana University School of Medicine
- Wolf, Barry, MD, PhD; Ann and Robert H Lurie Children's Hospital of Chicago
- Wolfe, Lynne, ARNP, MS; National Human Genome Research Institute
- Wolf, Nicole I, MD, PhD; Amsterdam University Medical Centers
- Wollnik, Bernd, MD; University of Cologne
- Wong, Derek, MD; University of California Los Angeles Medical Center
- Wong, Lee-Jun C, PhD; Baylor College of Medicine
- Wong, Melanie, MBBS, PhD; Children's Hospital Westmead
- Woods, Christopher Geoffrey, MB ChB; University of Cambridge
- Woolf, Adrian S, MA, MD; University of Manchester and Central Manchester University Hospitals NHS Foundation Trust
- Wortmann, Saskia B, MD, PhD; Salzburger Landeskliniken and Paracelsus Medical University
- Wright, Benjamin, MD; University Hospitals Birmingham
- Wright, Galen EB, PhD; University of British Columbia
- Wright, J Timothy, DDS, MS; University of North Carolina
- Wright, Michael J, ChB, MB, MSc; Institute of Human Genetics
- Wszolek, Zbigniew K, MD; Mayo Clinic
- Wu, Bai-Lin, M Med, PhD; Boston Children's Hospital
- Wuyts, Wim, PhD; University and University Hospital of Antwerp
- Xia, Maya, BA; COMBINEDBrain
- Xiao, Changrui, MD; University of California Irvine
- Xin, Baozhong, PhD; DDC Clinic – Center for Special Needs Children
- Xu, Manlong, MD, PhD; University of Alberta
- Yamada, Koki, MD, PhD; Children's Hospital Boston
- Yamada, Mitsunori, MD, PhD; Shinshu University School of Medicine
- Yamanaka, Koji, MD, PhD; RIKEN Brain Science Institute
- Yang, Jiandong, PhD; George Washington University School of Medicine
- Yang, Paul, MD, PhD; Casey Eye Institute - Oregon Health Sciences University
- Yang, Yaping, PhD; AiLife Diagnostics
- Yap, Kai Lee, PhD; Northwestern University
- Yates, T Michael, MBChB; University of Edinburgh
- Yau, Mabel, MD; Mount Sinai School of Medicine
- Yehia, Lamis, PhD; Cleveland Clinic
- Yen, Timothy, MD; University of Colorado Anschutz Medical Center
- Yeowell, Heather N, PhD; Duke University Medical Center
- Yntema, Helger G, PhD; Radboud University Medical Center
- Yonker, Lael, MD; MassGeneral Hospital for Children
- Yoshida, Kunihiro, MD, PhD; Shinshu University Hospital
- Youngblom, Emily, BA; University of Washington School of Public Health
- Young, Danielle O, MS; Kimball Genetics, Inc
- Young, Elizabeth, BSc, PhD; Royal Devon and Exeter Healthcare NHS Trust
- Young, William F, MD, MSc; Mayo Clinic
- Youssefian, Leila, MSc, PhD; Thomas Jefferson University
- Yu-Wai-Man, Patrick, BMedSci, MBBS, PhD; University of Cambridge
- Yuan, Bo, PhD; Baylor College of Medicine
- Zackai, Elaine H, MD; Children's Hospital of Philadelphia
- Zadeh, Neda, MD; CHOC Children’s Hospital
- Zaki, Maha S, MD, PhD; National Research Centre
- Zandee, Wouter, MD, PhD; University Medical Center Groningen
- Zara, Federico, PhD; G Gaslini Pediatric Institute and University of Genova
- Zarate, Yuri A, MD; University of Arkansas for Medical Sciences
- Zariwala, Maimoona A, MSc, PhD; University of North Carolina at Chapel Hill
- Zbuk, Kevin M, MD; Cleveland Clinic Genomic Medicine Institute
- Zelley, Kristin, MS; Children's Hospital of Philadelphia
- Zerr, Inga, MD; University Medical School
- Zhai, Yi, MD, PhD; University of Alberta
- Zhang, Kejian, MBA, MD; Mount Sinai Genomics
- Ziegler, John B, MBBS, MD; Sydney Children's Hospital
- Ziegler, Shira G, MD, PhD; Johns Hopkins University School of Medicine
- Zipfel, Peter F, PhD; Hans Knoll Institute
- Zippin, Jonathan, MD, PhD; Joan and Sanford I Weill Medical College of Cornell University
- Zobor, Ditta, MD, PhD; University of Tübingen
- Zoghbi, Huda Y, MD; Baylor College of Medicine
- Zschocke, Johannes, MD, PhD; Medical University of Innsbruck
- Züchner, Stephan, MD, PhD; University of Miami Miller School of Medicine
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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. GeneReviews Authors.