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Molecular Autism|October 27, 2021
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizuresBeryl Royer-Bertrand, Marine Jequier Gygax, Katarina Cisarova, et al.European Journal of Medical Genetics|November 26, 2018
Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromesElizabeth J Bhoj, Damien Haye, Annick Toutain, et al.Scientific Reports|August 23, 2017
Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signalingDong Li, Xiao Chang, John J Connolly, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.Scientific Reports|June 21, 2017
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signalingDong Li, Xiao Chang, John J Connolly, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humansCai Qi, Irena Feng, Ana Rita Costa, et al.Journal of Inherited Metabolic Disease|March 18, 2021
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypesHind Alsharhan, Miao He, Andrew C Edmondson, et al.Nature Medicine|July 3, 2019
ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitorDong Li, Michael E March, Alvaro Gutierrez-Uzquiza, et al.American Journal of Human Genetics|August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.The Journal of Molecular Diagnostics : JMD|December 23, 2018
Automated Clinical Exome Reanalysis Reveals Novel DiagnosesSamuel W Baker, Jill R Murrell, Addie I Nesbitt, et al.Pageof 8