William Bertani-Torres

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function

V. Pingault, N. Bondurand, Lisa Zerad, 2021, Journal of Medical Genetics.

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairment.

E. Quelennec, J. Amiel, F. Petit, 2020, Stem cell research.

A 22q13.1 duplication in mosaicism including SOX10.

M. Parisot, N. Loundon, J. Lapierre, 2023, American journal of medical genetics. Part A.

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants

R. Mingroni-Netto, S. S. da Costa, Eliete Pardono, 2023, Audiology research.