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Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
American Journal of Human Genetics|July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental DisordersBjörn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.
Cellular and Molecular Life Sciences : CMLS|March 28, 2024
De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptorYuchen Xu, Rui Song, Riley E Perszyk, et al.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
The New England Journal of Medicine|April 11, 2014
Glycosylation, hypogammaglobulinemia, and resistance to viral infectionsMohammed A Sadat, Susan Moir, Tae-Wook Chun, et al.
Annals of Neurology|July 29, 2024
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual DisabilityArkaprava Roychaudhury, Yu-Ri Lee, Tae-Ik Choi, et al.
American Journal of Human Genetics|December 7, 2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndromeKeith W McLarren, Tesa M Severson, Christèle du Souich, et al.
Orphanet Journal of Rare Diseases|September 25, 2012
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?Marie Morimoto, Zhongxin Yu, Peter Stenzel, et al.
American Journal of Human Genetics|June 30, 2015
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesShannon Marchegiani, Taylor Davis, Federico Tessadori, et al.
Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.
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