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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 30, 2019
De novo and biallelic DEAF1 variants cause a phenotypic spectrumMaria J Nabais Sá, Philip J Jensik, Stacey R McGee, et al.Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.Human Molecular Genetics|July 21, 2022
Natural history of KBG syndrome in a large European cohortLorenzo Loberti, Lucia Pia Bruno, Stefania Granata, et al.Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.Journal of Medical Genetics|March 12, 2024
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementDidier Lacombe, Agnès Bloch-Zupan, Cecilie Bredrup, et al.Journal of Intellectual Disability Research : JIDR|October 9, 2020
Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromesP A Mulder, I D C van Balkom, A M Landlust, 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.Pageof 16