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Molecular Psychiatry|February 18, 2021
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypesCatherine A Brownstein, Richard S Smith, Lance H Rodan, et al.
American Journal of Human Genetics|July 14, 2023
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signalingManuela Morleo, Rossella Venditti, Evangelos Theodorou, et al.
The Journal of Clinical Investigation|December 4, 2019
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disabilityLin Li, Mohammad Ghorbani, Monika Weisz-Hubshman, et al.
Genes|August 29, 2024
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense VariantsMaria Carla Borroto, Coralie Michaud, Chloé Hudon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityQuentin Thomas, Thierry Gautier, Dana Marafi, 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.
EMBO Molecular Medicine|July 22, 2026
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental diseaseMaya M Polovitskaya, Tinatin Tkemaladze, Lotte Jensen, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 familiesMonica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2020
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndromeEline A Verberne, Shuxiang Goh, Jade England, et al.
Annals of Neurology|October 9, 2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defectKyle A Metz, Xinchen Teng, Isabelle Coppens, et al.
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