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Pratt VM, Scott SA, Pirmohamed M, et al., editors. Medical Genetics Summaries [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2012-.

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Medical Genetics Summaries [Internet].

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Created: ; Last Update: December 12, 2023.

Estimated reading time: 13 minutes

Allegra, Carmen J., MD; University of Florida Health, Gainesville, FL, USA

Alzghari, Saeed, MS, MBA, PharmD; Gulfstream Genomics, Dallas, TX, USA

Amstutz, Ursula, PhD; University of Bern, Bern, Switzerland

Appell, Malin Lindqvist, PhD; Linköping University, Linköping, Sweden

Badary, Osama A., PhD, MSc; The British University in Egypt, Cairo, Egypt

Bancone, Germana, PhD; University of Oxford, Oxford, UK

Bansal, Sumit, PhD; University of Washington, Seattle, WA, USA

Beam, Teresa, PhD; Manchester University, North Manchester, IN, USA

Beckers, Albert, MD, PhD; University of Liège, Liège, Belgium

Beitelshees, Amber, PharmD, MPH, FAHA, FCCP; Baltimore, MD, USA

Bitner-Glindzicz, Maria, PhD, FRCP; University College London, London, UK

Bousman, Chad, MPH, PhD; University of Calgary, Calgary, AB, Canada

Brauch, Hiltrud, PhD; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology (IKP), Stuttgart, Germany

Brown, Jacob T., PharmD, MS; University of Minnesota College of Pharmacy, Duluth, MN, USA

Burstein, Harold, MD, PhD; Harvard Medical School, Boston, MA, USA

Callaghan, John, MD, PhD; Indiana University School of Medicine, Indianapolis, IN, USA

Carpenter, William, MD; University of Maryland School of Medicine, Baltimore, MD, USA

Cavallari, Larisa H., PharmD; University of Florida, Gainesville, FL, USA

Chapman, Paul, MD; Memorial Sloan Kettering Cancer Center, New York, NY, USA

Cheon, Jae Hee, MD; Yonsei University College of Medicine, Seoul, Korea

Chung, Cecilia P., MD, MPH; Vanderbilt University Medical Center, Nashville, TN, USA

Commons, Rob, PhD, FRCAP, MPH; Ballarat Health Services, Ballarat, VIC, Menzies School of Health Research, Darwin, NT, Australia

Crews, Kristine, PharmD; St. Jude Children’s Research Hospital, Memphis, TN, USA

Cronin-Fenton, Deirdre, PhD; Aarhus University, Aarhus, Denmark

Daly, Adrian, MBBch, PhD; University of Liège, Liège, Belgium

Delate, Thomas M., PhD, MS; Kaiser Permanente National Pharmacy, University of Colorado Cancer Center, Aurora, CO, USA

Ehret, Megan, MS, PharmD, BCPP; University of Maryland, Baltimore, MD, USA

Esquivel, Bernard, MD, MHA, PhD; Latin American Association for Personalized Medicine, Vancouver, BC, Canada

Eugene, Andy; MD, PhD; Shenandoah University - Fairfax Inova Center for Personalized Health, Fairfax, VA, USA

Freml, Jared, PharmD; Kaiser Permanente Colorado, University of Colorado Skaggs School of Pharmacy & Pharmaceutical Sciences, Aurora, CO, USA

Formea, Christine, PharmD, BCPS, FCCP, FASHP; Mayo Clinic College of Medicine and Science, Rochester, MN, USA

Franciosi, James P., MD, MS; Nemours Children’s Hospital, University of Central Florida College of Medicine, Orlando, FL, USA

Gaedigk, Andrea, MS, PhD; University of Missouri, Kansas City, MO, USA

Gage, Brian, MSc, MD; Washington University, St. Louis, MO, USA

Grond, Stefan, MD; Klinikum Lippe, Lemgo, Germany

Gupta, Anita, DO, PharmD; Drexel University College of Medicine, Philadelphia, PA, USA

Hachad, Houda, PharmD; AccessDx, Seattle, WA, USA

Haidar, Cyrine-Eliana, PharmD, BCPS, BCOP, FASHP; St. Jude Children's Research Hospital, Memphis, TN, USA

Hampson, Aidan, PhD; National Institutes of Health, Bethesda, MD, USA

Hardison, Matthew, PhD, FACMG; Aegis Sciences Corporation, Nashville, TN, USA

Henrich, Timothy, MD; Brigham and Women’s Hospital, Cambridge, MA, USA

Henricks, Linda, PharmD; The Netherlands Cancer Institute, Amsterdam, The Netherlands

Hermosillo-Rodriguez, Jesus, MD; Colorado Permanente Medical Group, Denver, CO, USA

Hickey, Scott, MD; Ohio State University, Columbus, OH, USA

Hiratsuka, Masahiro, PhD; Graduate School of Pharmaceutical Sciences Tohoku University, Sendai, Japan

Holsappel, Inge, MSc; Royal Dutch Pharmacists Association (KNMP), The Hague, The Netherlands

Hicks, David, MD; University of Rochester Medical Center, Rochester, NY, USA

Hudis, Clifford, MD; Weill Cornell Medical College, New York, NY, USA

Iwuchukwu, Otito F., RPh, PhD; Fairleigh Dickinson University School of Pharmacy, Florham Park, NJ, USA

Johnson, Douglas, MD; Vanderbilt University Medical Center, Nashville, TN, USA

Jones, J. Shawn, PhD, MS; Texas Tech University Health Sciences Center, Dallas, TX, USA

Jönsson, Erik, MD, PhD; Karolinska Institutet, Stockholm, Sweden

Joshi, Avadhut, PhD; Translational Software, Bellevue, WA, USA

Jukic, Marin, PhD; Karolinska Institute, Stockholm, Sweden

Kasi, Pashtoon, MD, MS; University of Iowa Health Care, Iowa City, IA, USA

Karnes, Jason H., PharmD, PhD; University of Arizona College of Pharmacy and College of Medicine, Tucson, AZ, USA

Kawedia, Jitesh, PhD; University of Texas MD Anderson Cancer Center, Houston, TX, USA

Kaye, Alan, MD, PhD; Louisiana State University Health Sciences Center, New Orleans, LA, USA

Kim, Hyun, PharmD; Boston Children’s Hospital, Boston, MA, USA

Kisor, David, PharmD; Manchester University, North Manchester, IN, USA

Kong, Ben, PharmD; Oregon Health & Science University, Portland, OR, USA

Kroger, Christine, PharmD, BCACP; Allina Health Care Management, Minneapolis, MN, USA

Kumar, Aditya; University of Washington, Seattle, WA, USA

Laan, Ellen T.M., PhD; Amsterdam University Medical Centre, Amsterdam, The Netherlands

Lacerda, Marcus, MD, PhD; Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Instituto Leônidas & Maria Deane, Fiocruz, Manaus, Brazil

Lagging, Martin, MD, PhD; University of Gothenburg, Gothenburg, Sweden

Langer, Nicolas, PhD; Child Mind Institute, New York, NY, USA

Lee, Seok-Yang, PharmD; Sungkyunkan University, Seoul, Republic of Korea

Leeder, Steven, PharmD, PhD; Children’s Mercy Hospital, Kansas City, MO, USA

Lennard, Lynne, PhD; University of Sheffield, Sheffield, UK

de Leon, Jose, MD; University of Kentucky, KY, USA

Linder, Mark, PhD; University of Louisville, Louisville, KY, USA

Lipkowitz, Stanley, MD, PhD; National Cancer Institute, Bethesda, MD, USA

Lively, Tracy, PhD; National Cancer Institute, Bethesda, MD, USA

Madi, Ayman, MD, MCRP; The Clatterbridge Cancer Centre NHS Foundation Trust, Liverpool, UK

Malhotra, Anil, MD; Hofstra Northwell School of Medicine, Hempstead, NY, USA

Mandell, Brian F., MD, PhD, MACP, FACR; Cleveland Clinic, Cleveland Clinic Journal of Medicine, Cleveland, OH, USA

Manzi, Shannon, PharmD, BCPPS; Boston Children’s Hospital, Boston, MA, USA

Marinaki, Anthony, PhD; St Thomas’ Hospital, London, UK

McDermott, John, MRes, BSc, MBChB; University of Manchester, Manchester, UK

McGill, Neil William, MD; Royal Prince Alfred Hospital, Sydney, NSW, Australia

Meijer, Berrie, MD, PhD; Noordwest Hospital Group, Alkmaar, The Netherlands

Merl, Man Yee, PharmD, BCOP; Yale-New Haven Hospital, New Haven, CT, USA

Miller, Mark W., PhD; Boston University School of Medicine, Boston, MA, USA.

Mistry, Pramod K., MD, PhD, FRCP, FAASLD; Yale School of Medicine, New Haven, CT

Molden, Espen, PhD; University of Oslo, Oslo, Norway

Morton, Jenny, PhD, ScD; University of Cambridge, Cambridge, UK

Mougey, Edward B., PhD; Nemours Children’s Specialty Care, Jacksonville, FL, USA

Mukerjee, Gouri, PhD; Geneyouin Inc., Toronto, ON, Canada

Müller, Daniel, MD, PhD; University of Toronto, ON, Canada

Murphy, Michael, MD; University of Oxford, Oxford, UK

Nagy, Mohamed, BPharm; Children's Cancer Hospital, Cairo, Egypt

Newman, William, MA, FRCP, PhD; University of Manchester, Manchester, UK

Nijenhuis, Marga, PhD; Royal Dutch Pharmacists Association (KNMP), The Hague, The Netherlands

Nuki, George; University of Edinburgh, Edinburgh, Scotland, UK

O’Brien, Thomas, MD, MPH; National Cancer Institute, Bethesda, MD, USA

O’Donnell, Peter H., MD; The University of Chicago, Chicago, IL, USA

Obeng, Aniwaa Owusu, PharmD; Icahn School of Medicine at Mount Sinai, New York, NY, USA

Ostrov, David A., PhD; University of Florida College of Medicine, Gainesville, FL, USA

Patel, Jai N., PharmD, BCOP; Levine Cancer Institute, Charlotte, NC, USA

Patrinos, George, PhD; University of Patras, Patra, Greece

Pauli, Emily K., PharmD; Clearview Cancer Institute, Huntsville, AL, USA

Pawloski, Pamala, PharmD; HealthPartners Institute, Bloomington, MN, USA

Peeters, Marc, MD, PhD; University Hospital Antwerp, Antwerp, Belgium

Phillips, Elizabeth, MD, FIDSA; Vanderbilt University Medical Center, Nashville, TN, USA

Pirmohamed, Munir, MB ChB (Hons), PhD, FRCP, FRCP(E), FFPM, FRSB, FBPhS, FMedSci; MRC Centre for Drug Safety Science and Wolfson Centre for Personalized Medicine, HDR UK North, British Pharmacological Society, University of Liverpool, Liverpool, UK

Pollock, Bruce, MD, PhD; University of Toronto, Toronto, ON, Canada

Pondé, Noam, MD; A.C. Camargo Cancer Center, São Paulo, Brazil

Pratt, Victoria M., PhD, FACMG; Indiana University School of Medicine, Indianapolis, IN, USA

Price, Timothy, MBBS, DHlthSci (Medicine), FRACP; The Queen Elizabeth Hospital Campus, CALHN, Woodville South, Adelaide, Australia

Punyawudho, Baralee, PhD; Chiang Mai University, Chiang Mai, Thailand

Purcell, Anthony, PhD; Monash University, Melbourne, Australia

Rahman, Shamima, PhD, FRCP; University College London, London, UK

Ramey, Bronwyn, PhD, HCLD(ABB); LetsGetChecked, New York, NY, USA

Rashed, Rashed, BCNSP, MSc; Children’s Cancer Hospital, Cairo, Egypt

Reizine, Natalie, MD; University of Illinois Cancer Center, Chicago, IL, USA

Rendic, Slobodan, PhD; Independent Scientist, Zagreb, Croatia

Riden, Katherine, PharmD; AccessDx Laboratory, Houston, TX, USA

Rimawi, Mothaffar Fahed, MD; Baylor College of Medicine, Houston, TX, USA

Rogawski, Michael, MD, PhD; University of California, Davis, CA, USA

Rosenzweig, Mark, PhD; Foundation Medicine Inc., Cambridge, MA, USA

Ross, Lisa, MS; ViiV Healthcare, Durham, NC, USA

Saab, Yolande, PharmD, PhD; Lebanese American University, Beirut, Lebanon

Sammons, Sarah, MD; Duke University, Durham, NC, USA

Santos, Francisco Abad, MD, PhD; Hospital Universitario de la Princesa, Madrid, Spain

Saruwatari, Junji, PhD; Kumamoto University, Kumamoto, Japan

Satyagraha, Ari Winasti, Dr. sc. hum.; Eijkman Institute for Molecular Biology, Jakarta, Indonesia

Schellens, Jan H.M., MD, PhD; The Netherlands Cancer Institute, Amsterdam, The Netherlands

Schiff, Rachel, PhD, Baylor College of Medicine, Houston, TX, USA

Schmidt, Siegfried O. F., MD, PhD, FAAFP; University of Florida Health Family Medicine, Gainesville, FL, USA

Schneeweiss, Andreas, MD; Heidelberg University Hospital, Heidelberg, Germany

Schroth, Werner, PhD; Institute of Clinical Pharmacology, Stuttgart, Germany

Schuft, Kandace, PharmD; Wolters Kluwer, Hudson, OH, USA

Schulman, Sol, MD; Harvard Medical School, Boston, MA, USA

Scott, Stuart A., PhD, ABMGG, FACMG; Stanford University, Palo Alto, CA, USA

Shah, Shailja C., MD, MPH; Vanderbilt University Medical Center, Veterans Affairs Tennessee Valley Healthcare System, Nashville, TN, USA

Sharma, Amit, PhD; ICGEB, New Delhi, India

Sharma, Priyanka, MD; University of Kansas Medical Center, Westwood, KS, USA

Shukla, Ashutosh M., MD; University of Florida and Veterans Health Care System, Gainesville, FL, USA

Siasos, Gerasimos, MD, PhD, FCCP, FACC; Brigham and Women’s Hospital, Boston, MA, USA

Singh, Jasvinder, MD, MPH; University of Alabama Birmingham, Gout Clinic at the University of Alabama Health Sciences Foundation, VA Medical Center, Birmingham, AL, USA

Sissung, Tristan, PhD, MS; National Cancer Institute, Bethesda, MD, USA

Skaar, Todd, PhD; Indiana University, Bloomington, IN, USA

Stavraka, Chara, MD, MRCP, PhD; King’s College London/Guy’s and St Thomas’ NHS Foundation Trust, London, UK

Stamp, Lisa, MBChB, FRACP, PhD; University of Otago, Christchurch, New Zealand

Stockis, Armel, UCB Pharma, Brussels, Belgium

Sukasem, Chonlaphat, PhD; Mahidol University, Bangkok, Thailand

Sweatt, J. David, PhD; Vanderbilt University, Nashville, TN, USA

Szer, Jeff, B Med Sc, MB BS, FRACP; University of Melbourne, Peter MacCallum Cancer Centre and The Royal Melbourne Hospital, Melbourne, Australia

Tanasescu, Radu, MD; University of Nottingham School of Medicine, Queen’s Medical Centre, Nottingham, UK

Thirumaran, Ranjit, MPharm, PhD; Genelex Labs, Seattle, WA, USA

Thompson, Alex, MD, PhD; Duke University Medical Centre, Durham, NC, USA

Trenk, Dietmar, PhD; Albert Ludwig University of Freiburg, Freiburg, Germany

Tsunedomi, Ryouichi, PhD; Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan

Unadkat, Jashvant D., PhD; University of Washington, Seattle, WA, USA

Uppugunduri, Chakradhara, PhD, BPharm, MSc; University of Geneva, Geneva, Switzerland

van Laarhoven, Hanneke W.M., MD, PhD, PhD; University of Amsterdam, Amsterdam, The Netherlands

van Rhenen, Mandy, MSc; Royal Dutch Pharmacists Association (KNMP), The Hague, The Netherlands

Vieira, José Luiz Fernandes, PhD; Universidade Federal do Pará, Belém, Pará, Brazil

Visk, DeeAnn, PhD; San Diego, CA, USA

Wadelius, Mia, PhD; Uppsala University, Uppsala, Sweden

Wainberg, Mark, PhD, OC, OQ, FRSC; McGill University, Montreal, QC, Canada

Weinberg, Benjamin A., MD; MedStar Georgetown University Hospital, Georgetown Lombardi Comprehensive Cancer Center, Georgetown University Medical Center, Washington, DC, USA

Whirl-Carrillo, Michelle, PhD; Stanford University, Stanford, CA, USA

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Wikistrand, John, MD, PhD; University of Gothenburg, Gothenbeg, Sweden

Wolowich, William R., PharmD; Nova Southeastern University, Fort Lauderdale, FL, USA

Yadlapati, Rena, MD, MSHS; University of California San Diego, San Diego, CA, USA

Yaeger, Rona, MD; Memorial Sloan Kettering Cancer Center, New York, NY, USA

Yin, Ji-Ye; Xiangya Hospital, Central South University, Changsha, Hunan Province, China

Zgheib, Nathalie K., MD; American University of Beirut, Beirut, Lebanon

Zujewski, Jo Anne, MD; National Cancer Institute, Bethesda, MD, USA

Copyright Notice

All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.

Bookshelf ID: NBK436916

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