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American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.The Journal of Experimental Medicine|November 19, 2024
Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiencyElena Blanco, Carme Camps, Sameer Bahal, et al.American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.Brain : a Journal of Neurology|July 12, 2023
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypesMaria O Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, et al.Nature Genetics|April 10, 2025
Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.American Journal of Human Genetics|January 5, 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3Maimuna S Paul, Sydney L Michener, Hongling Pan, et al.Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.Genetics in Medicine Open|January 17, 2025
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disordersHarriet Copeland, Karen J Low, Sarah L Wynn, et al.American Journal of Human Genetics|August 4, 2015
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingLot Snijders Blok, Erik Madsen, Jane Juusola, et al.American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.Pageof 6