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Epigenomics|May 30, 2023
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variantsNiels Vos, Jack Reilly, Mariet W Elting, et al.Journal of Inherited Metabolic Disease|October 18, 2015
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patientsRosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen, et al.American Journal of Human Genetics|November 24, 2020
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical DefectsAnna R Duncan, Antonio Vitobello, Stephan C Collins, et al.Annals of Clinical and Translational Neurology|July 24, 2022
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infectionAjay X Thomas, Nichole Link, Laurie A Robak, et al.Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.Orphanet Journal of Rare Diseases|June 11, 2011
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Carmela Fusco, et al.Medrxiv : the Preprint Server for Health Sciences|June 9, 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.American Journal of Human Genetics|November 18, 2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variantsCorrine Smolen, Matthew Jensen, Lisa Dyer, et al.Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|January 4, 2019
GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary resultsAnna Bersano, Gloria Bedini, Sara Nava, et al.Pageof 12