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Neurology|July 5, 2023
Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1Kim M Thalwitzer, Jan H Driedger, Julie Xian, 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.Nature Genetics|January 24, 2012
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plusBeverley H Anderson, Paul R Kasher, Josephine Mayer, et al.Nature Genetics|August 30, 2016
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cystsEmma M Jenkinson, Mathieu P Rodero, Paul R Kasher, et al.The Journal of Clinical Endocrinology and Metabolism|October 2, 2020
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1CFélixe Pelletier, Stefanie Perrier, Ferdy K Cayami, et al.American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.Pageof 27