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Birth Defects Research. Part A, Clinical and Molecular Teratology|June 28, 2016
A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardationCarole Goumy, Mathilde Gay-Bellile, Gaelle Salaun, et al.
Human Mutation|April 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected CiliopathyAurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey, et al.
American Journal of Human Genetics|October 1, 2013
Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic herniaMyriam Srour, David Chitayat, Véronique Caron, et al.
Human Mutation|November 1, 2012
Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutationsHouda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, et al.
Journal of Medical Genetics|September 21, 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literaturePauline Marzin, Sophie Rondeau, Jean-Luc Alessandri, et al.
Human Molecular Genetics|April 4, 2017
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expressionLise-Marie Donnio, Baptiste Bidon, Satoru Hashimoto, et al.
Nature Communications|September 21, 2021
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicityEndika Haro, Florence Petit, Charmaine U Pira, et al.
American Journal of Human Genetics|May 7, 2013
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafnessVeronique Pingault, Virginie Bodereau, Viviane Baral, et al.
Molecular Psychiatry|November 1, 2025
Autism-associated ARHGEF9 variants impair GABAergic synapses and ultrasonic communication by reducing gephyrin phosphorylationHyeji Jung, Byeongchan Kim, Gyubin Jang, et al.
European Journal of Human Genetics : EJHG|April 30, 2015
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1ALucas M Bronicki, Claire Redin, Severine Drunat, et al.
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