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American Journal of Human Genetics|July 16, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndromeDmitrijs Rots, Arianne Bouman, Ayumi Yamada, et al.American Journal of Human Genetics|April 28, 2021
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureDmitrijs Rots, Eric Chater-Diehl, Alexander J M Dingemans, et al.American Journal of Human Genetics|January 29, 2021
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunctionJoery den Hoed, Elke de Boer, Norine Voisin, et al.Nature Medicine|January 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke de Boer, et al.American Journal of Human Genetics|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.American Journal of Human Genetics|February 17, 2021
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in femalesFrancesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, et al.American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2024
Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disordersElisa Cali, Tania Quirin, Clarissa Rocca, et al.Pageof 41