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American Journal of Human Genetics|June 3, 2017
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin DysfunctionMichele Gabriele, Anneke T Vulto-van Silfhout, Pierre-Luc Germain, et al.European Journal of Human Genetics : EJHG|August 27, 2015
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variantDavid A Koolen, Rolph Pfundt, Katrin Linda, et al.Brain : a Journal of Neurology|January 23, 2019
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insightsDevon L Johnstone, Hilal H Al-Shekaili, Maja Tarailo-Graovac, et al.Journal of Medical Genetics|August 16, 2023
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literatureFrancesca Peluso, Stefano G Caraffi, Gianluca Contrò, et al.European Journal of Human Genetics : EJHG|June 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterizationCamille Engel, Michaela Rendek, Jessica Assoumani, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.Nature Communications|February 1, 2020
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Célia Bosso-Lefèvre, George Grady, et al.The Lancet. Diabetes & Endocrinology|June 20, 2020
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort studyStefan Groeneweg, Ferdy S van Geest, Ayhan Abacı, et al.American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, 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.Pageof 9