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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 19, 2019
A clinical scoring system for congenital contractural arachnodactylyIlse Meerschaut, Shana De Coninck, Wouter Steyaert, et al.
American Journal of Human Genetics|December 9, 2017
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental DisorderSara Cuvertino, Helen M Stuart, Kate E Chandler, et al.
Nature Communications|April 20, 2024
TAD boundary deletion causes PITX2-related cardiac electrical and structural defectsManon Baudic, Hiroshige Murata, Fernanda M Bosada, et al.
European Journal of Human Genetics : EJHG|October 7, 2018
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disabilityRosalind Verheije, Gabriel S Kupchik, Bertrand Isidor, et al.
American Journal of Human Genetics|September 26, 2023
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defectsFlorence Petit, Mauro Longoni, Julie Wells, et al.
European Journal of Medical Genetics|July 21, 2020
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)Gabriella Vera, Arthur Sorlin, Geoffroy Delplancq, et al.
European Journal of Human Genetics : EJHG|April 4, 2025
Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem featuresChristel Thauvin-Robinet, Aurore Garde, Maud Favier, et al.
Human Genetics|May 4, 2021
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyIlaria Parenti, Daphné Lehalle, Caroline Nava, et al.
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.
Journal of Medical Genetics|January 15, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndromeChristopher T Gordon, Alice Vuillot, Sandrine Marlin, et al.
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