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The Journal of Genetic Psychology|February 20, 2025
Shared Environment - Different Genes: Speech-Language Development in a Pair of Dizygotic Twins with and Without MECP2 MutationSigrun Lang, Peter B Marschik, Zuzanna Laudańska, et al.Genes|July 30, 2020
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and RegressionJiani Yin, Chun-An Chun, Nikolay N Zavadenko, et al.ACS Applied Materials & Interfaces|March 17, 2017
Bioinspired Nanofeatured Substrates: Suitable Environment for Bone RegenerationH Rammal, M Dubus, L Aubert, et al.International Journal of Neonatal Screening|September 23, 2024
Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?Elena Schnabel-Besson, Ulrike Mütze, Nicola Dikow, et al.Human Mutation|June 22, 2021
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorderFrancesca Semino, Julian Schröter, Marjolein H Willemsen, et al.Proceedings of the National Academy of Sciences of the United States of America|September 22, 2025
Functional spectrum of USP7 pathogenic variants in Hao-Fountain syndrome: Insights into the enzyme's activity, stability, and allosteric modulationEmilie J Korchak, Mona Sharafi, Isabella Jaen Maisonet, et al.Human Genetics|August 15, 2012
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilizationSvetlana A Yatsenko, Patricia Hixson, Erin K Roney, et al.Disease Models & Mechanisms|January 13, 2023
Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndromeDerek L Reznik, Mingxiao V Yang, Pedro Albelda de la Haza, et al.Annals of Neurology|December 26, 2009
Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndromeMelissa B Ramocki, Sarika U Peters, Y Jane Tavyev, et al.Pageof 23