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American Journal of Medical Genetics. Part A|September 22, 2022
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plusMary R Sy, Jaynee Chauhan, Katrina Prescott, et al.Brain : a Journal of Neurology|February 27, 2016
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagySusan Byrne, Lara Jansen, Jean-Marie U-King-Im, et al.Human Mutation|October 25, 2019
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicityHanyin Cheng, Simona Capponi, Emma Wakeling, et al.European Journal of Human Genetics : EJHG|November 27, 2014
Further delineation of the KAT6B molecular and phenotypic spectrumTamsin Gannon, Rahat Perveen, Hélene Schlecht, et al.Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 12, 2018
Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 12, 2018
Correction: Arterial tortuosity syndrome: 40 new families and literature reviewAude Beyens, Juliette Albuisson, Annekatrien Boel, et al.Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.Nature Genetics|April 21, 2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardationPatrick S Tarpey, Raffaella Smith, Erin Pleasance, et al.Science Translational Medicine|May 31, 2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon productionFrédéric Ebstein, Sébastien Küry, Victoria Most, et al.Pageof 6