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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 21, 2021
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotoniaAlison M Muir, Jennifer F Gardner, Richard H van Jaarsveld, et al.
American Journal of Human Genetics|May 21, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivityTassja Kalm, Claudia Schob, Hanna Völler, et al.
NPJ Genomic Medicine|March 1, 2024
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomaliesJil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, et al.
American Journal of Human Genetics|December 20, 2023
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeVincenzo Salpietro, Reza Maroofian, Maha S Zaki, et al.
Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 8, 2023
Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individualsElisabeth Bosch, Bernt Popp, Esther Güse, et al.
European Journal of Human Genetics : EJHG|October 25, 2024
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlationsAngela Peron, Felice D'Arco, Kimberly A Aldinger, et al.
American Journal of Human Genetics|May 14, 2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and EpilepsyAnne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, et al.
European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
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