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Brain : a Journal of Neurology|June 7, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disordersBirk Möller, Lena-Luise Becker, Afshin Saffari, et al.
Genome Medicine|June 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeMargot A Cousin, Emma L Veale, Nikita R Dsouza, et al.
Human Genetics|November 8, 2021
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspectsJuliette Coursimault, Anne-Marie Guerrot, Michelle M Morrow, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson SyndromeKimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, 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.
Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.
American Journal of Human Genetics|October 17, 2024
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathwayMaolei Gong, Jiayi Li, Zailong Qin, et al.
Nature Genetics|July 2, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndromeMargot A Cousin, Blake A Creighton, Keith A Breau, et al.
Nature Genetics|June 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathologyDan Sarni, Gráinne Neary, Paula L Carroll, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
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