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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 28, 2012
A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfectaWayne A Cabral, Aileen M Barnes, Adebowale Adeyemo, et al.
American Journal of Human Genetics|July 6, 2026
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomaliesGabrielle Lemire, Aren E Marshall, Tejan S Patel, et al.
American Journal of Human Genetics|December 20, 2011
Mutations in EZH2 cause Weaver syndromeWilliam T Gibson, Rebecca L Hood, Shing Hei Zhan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2021
The role of digital tools in the delivery of genomic medicine: enhancing patient-centered careSalma Shickh, Sara A Rafferty, Marc Clausen, et al.
American Journal of Medical Genetics. Part A|September 15, 2018
Warsaw breakage syndrome: Further clinical and genetic delineationEbba Alkhunaizi, Ranad Shaheen, Sanjay Kumar Bharti, et al.
Developmental Biology|September 24, 2025
WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse modelsAndrés Hernández-García, Bum Jun Kim, David Chitayat, et al.
Elife|May 1, 2016
The functional O-mannose glycan on α-dystroglycan contains a phospho-ribitol primed for matriglycan additionJeremy L Praissman, Tobias Willer, M Osman Sheikh, et al.
Human Molecular Genetics|January 30, 2013
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndromeKaren Buysse, Moniek Riemersma, Gareth Powell, et al.
American Journal of Human Genetics|October 9, 2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDaniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, et al.
Clinical Genetics|September 5, 2020
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiencyMaian Roifman, Kirsten M Niles, Lauren MacNeil, et al.
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