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Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
European Journal of Human Genetics : EJHG|December 3, 2015
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotypeMouna Barat-Houari, Bruno Dumont, Aurélie Fabre, et al.
American Journal of Medical Genetics. Part A|December 27, 2019
Growth charts in Kabuki syndrome 1Valentin Ruault, Carole Corsini, Claire Duflos, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded proteinElke de Boer, Charlotte W Ockeloen, Rosalie A Kampen, et al.
European Journal of Human Genetics : EJHG|March 26, 2026
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individualsQuentin Sabbagh, Camille Cenni, Sadegheh Haghshenas, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 20, 2023
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individualsQuentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, et al.
American Journal of Human Genetics|February 29, 2020
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, et al.
HGG Advances|January 20, 2022
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disordersMichael A Levy, Haley McConkey, Jennifer Kerkhof, et al.
Human Mutation|July 29, 2022
Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disordersMichael A Levy, Raissa Relator, Haley McConkey, et al.
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