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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 13, 2018
IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2019
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiencyAsh Zawerton, Cyril Mignot, Ashley Sigafoos, et al.Molecular Psychiatry|December 4, 2014
Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association StudyD J Gottlieb, K Hek, T-H Chen, et al.Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.European Journal of Human Genetics : EJHG|June 21, 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patientsCamille Engel, Stéphanie Valence, Geoffroy Delplancq, et al.Nature Communications|May 15, 2023
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsyHanna M Ollila, Eilon Sharon, Ling Lin, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 4, 2018
Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsCyril Mignot, Aoife C McMahon, Claire Bar, et al.Brain : a Journal of Neurology|December 1, 2023
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypesBerardo Rinaldi, Allan Bayat, Linda G Zachariassen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 8, 2026
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND)Sally Nijim, Mimi Kim, Melissa Denish, et al.Pageof 140