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Human Mutation|February 4, 2010
Review and update of mutations causing Waardenburg syndromeVéronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, et al.
Stem Cell Research|March 29, 2023
Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markersMansour Alkobtawi, Patrick Pla, Brigitte Onteniente, et al.
Molecular Syndromology|April 9, 2015
A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndromeYassamine Doubaj, Véronique Pingault, Siham C Elalaoui, et al.
Human Genetics|August 22, 2002
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanismVéronique Pingault, Mathilde Girard, Nadège Bondurand, et al.
Audiology & Neuro-Otology|July 25, 2017
Unilateral Sensorineural Hearing Loss: Medical Context and EtiologyAntoine Paul, Sandrine Marlin, Marine Parodi, et al.
Clinical Genetics|November 18, 2025
Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn FetusJulie Baron, Madeleine Joubert, Marie Denis-Musquer, et al.
European Journal of Human Genetics : EJHG|May 26, 2005
Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndromeElisabeth Flori, Emmanuelle Girodon, Brigitte Samama, et al.
Biomedicines|August 28, 2025
Vestibular Deficit in Patients with Waardenburg SyndromeMathilde Benifla, Margaux Serey-Gaut, Emilie Bois, et al.
The Journal of Clinical Investigation|January 13, 2023
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand bindingYukiko Kurihara, Toru Ekimoto, Christopher T Gordon, et al.
Audiology Research|February 23, 2024
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative VariantsWilliam Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, et al.
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