Véronique Pingault (Veronique Pingault)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 8

Top Topics

Dna Methylation

Saccharomyces Cerevisiae

Genome Wide Identification

Peripheral Nerve

Top Venues

Audiology research

American journal of medical genetics. Part A

Science advances

This page only lists publications with an associated author ORCID identifier.

Publications

William Bertani-Torres, Margaux Serey-Gaut, Judite de Oliveira, Christine Bole, Mélanie Parisot, Patrick Nistschké, Marie-Laure Maurin, Jean-Michel Lapierre, Natalie Loundon, Kahina Belhous, Nadège Bondurand, Sandrine Marlin, Véronique Pingault
A 22q13.1 duplication in mosaicism including SOX10. American journal of medical genetics. Part A (2023)
William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault, Regina Célia Mingroni-Netto
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants. Audiology research 14 (1) (2023)
William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault, Regina Célia Mingroni-Netto
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants. Audiology research 14 (1) (2023)
Jérémy Dana, Guillaume Dorval, Christine Saint Martin, Kahina Belhous, Raphael Levy, Sandrine Marlin, Isabelle De Bie, Manon Mautret-Godefroy, Antonio Rausell, Marlène Rio, Elise Brischoux-Boucher, Tania Attié-Bitach, Nathalie Boddaert, Véronique Pingault
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering. Clinical genetics (2023)
William Bertani-Torres, Karina Lezirovitz, Danillo Alencar-Coutinho, Eliete Pardono, Silvia Souza da Costa, Larissa do Nascimento Antunes, Judite de Oliveira, Paulo Alberto Otto, Véronique Pingault, Regina Célia Mingroni-Netto
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants. Audiology research 14 (1) (2023)
Véronique Pingault, Lisa Zerad, William Bertani-Torres, Nadege Bondurand
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function. Journal of medical genetics (2021)
Huw B Thomas, Katherine A Wood, Weronika A Buczek, Christopher T Gordon, Véronique Pingault, Tania Attie-Bitach, Kathryn E Hentges, Vinod C Varghese, Jeanne Amiel, William G Newman, Raymond T O'Keefe
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. Human mutation 41 (8) (2020)
Anca G Radu, Sakina Torch, Florence Fauvelle, Karin Pernet-Gallay, Anthony Lucas, Renaud Blervaque, Véronique Delmas, Uwe Schlattner, Laurence Lafanechère, Pierre Hainaut, Nicolas Tricaud, Véronique Pingault, Nadège Bondurand, Nabeel El-Bardeesy, Lionel Larue, Chantal Thibert, Marc Billaud
LKB1 specifies neural crest cell fates through pyruvate-alanine cycling. Science advances 5 (7) (2019)