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Items: 1 to 20 of 500

1.
Dimuthu Alankarage, Justin O Szot, Nick Pachter, Anne Slavotinek, Licia Selleri, Joseph T Shieh, David Winlaw, Eleni Giannoulatou, Gavin Chapman, Sally L Dunwoodie
Hum Mol Genet. 2020 May 8; 29(7): 1068–1082. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz231
PMCID:
PMC7206850
2.
Friederike Petzold, Wenjun Jin, Elena Hantmann, Katharina Korbach, Ria Schönauer, Jan Halbritter
Clin Kidney J. 2022 Jul; 15(7): 1333–1339. Published online 2022 Apr 6. doi: 10.1093/ckj/sfac092
PMCID:
PMC9217644
3.
Laura Xicota, Stephanie Cosentino, Badri Vardarajan, Richard Mayeux, Thomas T. Perls, Stacy L. Andersen, Joseph M. Zmuda, Bharat Thyagarajan, Anatoli Yashin, Mary K. Wojczynski, Sharon Krinsky‐McHale, Benjamin L. Handen, Bradley T. Christian, Elizabeth Head, Mark E. Mapstone, Nicole Schupf, Joseph H. Lee, Sandra Barral, the Long‐Life Family Study (LLFS), Alzheimer's Disease Genetic Consortium (ADGC) , Alzheimer's Biomarkers Consortium‐Down Syndrome (ABC‐DS)
Alzheimers Dement. 2024 Apr; 20(4): 2670–2679. Published online 2024 Feb 21. doi: 10.1002/alz.13718
PMCID:
PMC11032545
4.
Jun W. Jeon, Julie Christensen, Jennifer Chisholm, Christopher Zalewski, Marjohn Rasooly, Caeden Dempsey, Alaina Magnani, Pamela Frischmeyer-Guerrerio, Carmen C. Brewer, Hung Jeffrey Kim
Otolaryngol Head Neck Surg.
Published in final edited form as: Otolaryngol Head Neck Surg. 2022 Feb; 166(2): 357–362. Published online 2021 May 11. doi: 10.1177/01945998211008899
PMCID:
PMC11007485
5.
Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M. Stoler, Raymond J. Louie, Lola K. Clarkson, Angie Lichty, Daniel C. Koboldt, Shalini C. Reshmi, Sanjay M. Sisodiya, Eva M.M. Hoytema van Konijnenburg, Klaas Koop, Peter M. van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie R. Sullivan, Susan S. Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M. Campeau
Am J Hum Genet. 2024 Apr 4; 111(4): 761–777. Published online 2024 Mar 18. doi: 10.1016/j.ajhg.2024.02.014
PMCID:
PMC11023922
6.
Sureni V. Mullegama, Kaitlyn A. Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula, Hua Gao, Joseph T. Alaimo, Kendra Engleman, Eric T. Rush, Karli Blocker, Katrina M. Dipple, Veronica M. Fettig, Heather Hare, Ian Glass, Dorothy K. Grange, Michael Griffin, Chanika Phornphutkul, Lauren Massingham, Lakshmi Mehta, Danny E. Miller, Jenny Thies, J Lawrence Merritt, II, Eric Muller, II, Matthew Osmond, Sarah L. Sawyer, Rachel Slaugh, Rachel E. Hickey, Barry Wolf, Care4Rare Canada Consortium, Undiagnosed Diseases Network, Sanjeev Choudhary, Miljan Simonović, Yueqing Zhang, Timothy Blake Palculict, Aida Telegrafi, Deanna Alexis Carere, Ingrid M. Wentzensen, Michelle M. Morrow, Kristin G. Monaghan, Jun Yang, Jane Juusola
Am J Hum Genet. 2024 Apr 4; 111(4): 778–790. Published online 2024 Mar 25. doi: 10.1016/j.ajhg.2024.02.016
PMCID:
PMC11023921
7.
Xueyang Pan, Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh, Sarah Drewes Williams, Lauren O'Grady, Oguz Kanca, Richard Person, Melissa T. Carter, Konrad Platzer, Franziska Schnabel, Rami Abou Jamra, Amy E. Roberts, Jane W. Newburger, Anya Revah-Politi, Jorge L. Granadillo, Alexander P.A. Stegmann, Margje Sinnema, Andrea Accogli, Vincenzo Salpietro, Valeria Capra, Lina Ghaloul-Gonzalez, Martina Brueckner, Marleen E.H. Simon, David A. Sweetser, Kevin E. Glinton, Susan E. Kirk, Baylor College of Medicine Center for Precision Medicine Models, Michael F. Wangler, Shinya Yamamoto, Wendy K. Chung, Hugo J. Bellen
Am J Hum Genet. 2024 Apr 4; 111(4): 742–760. Published online 2024 Mar 12. doi: 10.1016/j.ajhg.2024.02.007
PMCID:
PMC11023917
8.
Amy G. Jones, Matilde Aquilino, Rory J. Tinker, Laura Duncan, Zandra Jenkins, Gemma L. Carvill, Stephanie J. DeWard, Dorothy K. Grange, MJ Hajianpour, Benjamin J. Halliday, Muriel Holder-Espinasse, Judit Horvath, Silvia Maitz, Vincenzo Nigro, Manuela Morleo, Victoria Paul, Careni Spencer, Alina I. Esterhuizen, Tilman Polster, Alice Spano, Inés Gómez-Lozano, Abhishek Kumar, Gemma Poke, John A. Phillips, III, Hunter R. Underhill, Gregory Gimenez, Takashi Namba, Stephen P. Robertson
Am J Hum Genet. 2024 Apr 4; 111(4): 729–741. Published online 2024 Apr 4. doi: 10.1016/j.ajhg.2024.03.005
PMCID:
PMC11023914
9.
Caspar I. van der Made, Simone Kersten, Odelia Chorin, Karin R. Engelhardt, Gayatri Ramakrishnan, Helen Griffin, Ina Schim van der Loeff, Hanka Venselaar, Annick Raas Rothschild, Meirav Segev, Janneke H.M. Schuurs-Hoeijmakers, Tuomo Mantere, Rick Essers, Masoud Zamani Esteki, Amir L. Avital, Peh Sun Loo, Annet Simons, Rolph Pfundt, Adilia Warris, Marieke M. Seyger, Frank L. van de Veerdonk, Mihai G. Netea, Mary A. Slatter, Terry Flood, Andrew R. Gennery, Amos J. Simon, Atar Lev, Shirley Frizinsky, Ortal Barel, Mirjam van der Burg, Raz Somech, Sophie Hambleton, Stefanie S.V. Henriet, Alexander Hoischen
Am J Hum Genet. 2024 Apr 4; 111(4): 791–804. Published online 2024 Mar 18. doi: 10.1016/j.ajhg.2024.02.013
PMCID:
PMC11023912
10.
Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M. Savatt, Rachel Hauck, Abigail Sveden, the Brain Gene Registry Consortium, John N. Constantino, Joseph Piven, Christina A. Gurnett, Maya Chopra, Heather Hazlett, Philip R. O. Payne
J Neurodev Disord. 2024; 16: 17. Published online 2024 Apr 17. doi: 10.1186/s11689-024-09530-3
PMCID:
PMC11022437
11.
Maike F. Dohrn, Guney Bademci, Adriana P. Rebelo, Médéric Jeanne, Nicholas A. Borja, Danique Beijer, Matt C. Danzi, Stephanie A. Bivona, Paul Gueguen, Mohammad F. Zafeer, Undiagnosed Diseases Network , Mustafa Tekin, Stephan Züchner
Ann Clin Transl Neurol. 2024 Apr; 11(4): 1075–1079. Published online 2024 Mar 19. doi: 10.1002/acn3.51963
PMCID:
PMC11021672
12.
Mohammed A. Almuqbil, Sadia Tabassum, Osama Y. Muthaffar, Fouad Ghamdi, Zainab Al Masseri, Abdulaziz Alsaman, Reem A. Alkhater
Ann Clin Transl Neurol. 2024 Apr; 11(4): 1063–1066. Published online 2024 Feb 22. doi: 10.1002/acn3.52020
PMCID:
PMC11021621
13.
Hui Zhang, Jian Gao, Hanjun Wang, Mengli Liu, Shuangshuang Lu, Hongen Xu, Wenxue Tang, Guoxi Zheng
BMC Med Genomics. 2024; 17: 89. Published online 2024 Apr 16. doi: 10.1186/s12920-024-01858-y
PMCID:
PMC11020176
14.
Maria Papamichail, Anna Eleftheriades, Emmanouil Manolakos, Adamantia Papamichail, Panagiotis Christopoulos, Gwendolin Manegold-Brauer, Makarios Eleftheriades
BMC Womens Health. 2024; 24: 241. Published online 2024 Apr 15. doi: 10.1186/s12905-024-03081-4
PMCID:
PMC11017580
15.
Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C. Kurtz-Nelson, Rachel Earl, Raphael A. Bernier, Evan E. Eichler
J Neurodev Disord. 2024; 16: 15. Published online 2024 Apr 15. doi: 10.1186/s11689-024-09532-1
PMCID:
PMC11017562
16.
Sini Keskinen, Teija Paakkola, Mirjami Mattila, Marja Hietala, Hannele Koillinen, Jukka Laine, Maria K. Haanpää
Pediatr Dev Pathol. 2024 Mar-Apr; 27(2): 181–186. Published online 2023 Nov 19. doi: 10.1177/10935266231210155
PMCID:
PMC11015708
17.
Charlotte A. Houck, Marije Koopmans, Peter G. J. Nikkels
Pediatr Dev Pathol. 2024 Mar-Apr; 27(2): 176–180. Published online 2023 Dec 3. doi: 10.1177/10935266231213785
PMCID:
PMC11015707
18.
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Genes (Basel) 2024 Apr; 15(4): 430. Published online 2024 Mar 29. doi: 10.3390/genes15040430
PMCID:
PMC11049644
19.
Qi Yang, Qiang Zhang, Zailong Qin, Shang Yi, Jingsi Luo
BMC Med Genomics. 2024; 17: 95. Published online 2024 Apr 20. doi: 10.1186/s12920-024-01883-x
PMCID:
PMC11032587
20.
Lijun Wang, Youpeng Jin, Yuan Chen, Ping Zhao, Xiaohong Shang, Haiyan Liu, Lifeng Sun
Exp Biol Med (Maywood) 2024; 249: 10035. Published online 2024 Apr 8. doi: 10.3389/ebm.2024.10035
PMCID:
PMC11033403

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