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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, et al.Medrxiv : the Preprint Server for Health Sciences|July 16, 2025
Domain specific phenotypic expansion associated with variants in MACF1Nikhita Gogate, Angad Jolly, Jill A Rosenfeld, et al.Brain : a Journal of Neurology|October 1, 2022
Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndromeAriane Soldatos, Thomas B Nutman, Tory Johnson, et al.American Journal of Human Genetics|March 25, 2023
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesisF Graeme Frost, Marie Morimoto, Prashant Sharma, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 26, 2020
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipidsSacha Ferdinandusse, Kirsty McWalter, Heleen Te Brinke, et al.Nature Communications|July 1, 2026
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activityAleš Hnízda, Beatriz Martinez-Delgado, Diana Sanchez-Ponce, et al.Medrxiv : the Preprint Server for Health Sciences|April 22, 2024
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disordersYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Nature|July 11, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeYuyang Chen, Ruebena Dawes, Hyung Chul Kim, et al.Pageof 3