Véronique PINGAULT | Institut Imagine

Presentation

Véronique PINGAULT

Genetics of Developmental Disorders

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About

I work both at the Imagine institute for research on genetic diseases and at Necker hospital in the molecular genetics lab.

I defended my PhD degree in human genetics in 1999. I worked at Henri Mondor hospital Team Pr M. Goossens) up to 2015, whit the exception of my post-doc in Coreylab at Harvard Medical School. In 2016, I moved to the Imagine Institute to join the team headed by J. Amiel, with interest in the genetic bases of developmental diseases including neurocristopathies.

Scientific project

My research interests are about :
-Waardenburg syndrome
-Hirschsprung disease
-genetic basses of other developmental diseases
-iPSC to answer functional issues
-Gene expression regulation and non-coding variants
-Epigenetics and episignature
-One original mechanism of structural variants

Scientific Publications

Publications

2026

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype–Phe..., MDPI AG
2025

Rare features in Feingold syndrome type 1, Elsevier BV
2025

Criss cross heart: an outflow tract defect?, Springer Science and Business Media LLC
2025

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital ..., Wiley
2025

Vestibular Deficit in Patients with Waardenburg Syndrome, MDPI AG
2025

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patien..., Springer Science and Business Media LLC
2024

Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Di..., Cells
2024

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auric..., Springer Science and Business Media LLC
2024

Artificial intelligence‐based diagnosis in fetal pathology using external ear..., Wiley
2023

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the I..., MDPI AG
2023

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA
2023

A 22q13.1 duplication in mosaicism including SOX10., Am J Med Genet A
2023

Two induced pluripotent stem cell (iPSC) lines derived from patients affected..., Elsevier BV
2023

Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome..., Wiley
2022

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley
2022

Further delineation of auriculocondylar syndrome based on 14 novel cases and ..., Wiley
2022

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis
2021

SOX10: 20 years of phenotypic plurality and current understanding of its deve..., J Med Genet
2020

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis..., Stem Cell Res
2020

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med
2020

EFTUD2 missense variants disrupt protein function and splicing i..., Wiley
2020

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel..., Nat Commun
2018

News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervo..., Elsevier BV
2017

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle..., Elsevier BV
2017

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state, Wiley
2017

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle..., Gastroenterology
2015

A homozygousPAX3 mutation leading to severe presentation of Waardenburg syndr..., Wiley
2015

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro..., Oxford University Press (OUP)
2015

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro..., Hum Mol Genet
2013

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness, Elsevier BV
2012

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome ty..., Springer Science and Business Media LLC
2012

Novel and recurrent non-truncating mutations of the MITF basic domain: genoty..., Springer Science and Business Media LLC
2010

Review and update of mutations causing Waardenburg syndrome, Hindawi Limited
2007

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4, Elsevier BV
2007

The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcr..., Wiley
2007

Gene expression profiling identifies Hes6 as a transcriptional target of ATO..., Wiley
2005

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's d..., Springer Science and Business Media LLC
2002

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex ph..., Springer Science and Business Media LLC
2001

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is ..., BMJ
1998

Mutation of the Sry-related Sox10 ge..., National Academy of Sciences
1998

SOX10 mutations in patients with Waardenburg-Hirschsprung disease, Springer Science and Business Media LLC

Presentation

About

Scientific project

Scientific Publications

COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype–Phe..., MDPI AG

Rare features in Feingold syndrome type 1, Elsevier BV

Criss cross heart: an outflow tract defect?, Springer Science and Business Media LLC

Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital ..., Wiley

Vestibular Deficit in Patients with Waardenburg Syndrome, MDPI AG

Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patien..., Springer Science and Business Media LLC

Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Di..., Cells

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auric..., Springer Science and Business Media LLC

Artificial intelligence‐based diagnosis in fetal pathology using external ear..., Wiley

Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the I..., MDPI AG

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using exte..., Frontiers Media SA

A 22q13.1 duplication in mosaicism including SOX10., Am J Med Genet A

Two induced pluripotent stem cell (iPSC) lines derived from patients affected..., Elsevier BV

Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome..., Wiley

Retrospective evaluation of clinical and molecular data of 148 cases of esoph..., Wiley

Further delineation of auriculocondylar syndrome based on 14 novel cases and ..., Wiley

SATB2-associated syndrome: characterization of skeletal features and of bone ..., Orphanet J Rare Dis

SOX10: 20 years of phenotypic plurality and current understanding of its deve..., J Med Genet

Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 mis..., Stem Cell Res

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med

EFTUD2 missense variants disrupt protein function and splicing i..., Wiley

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cel..., Nat Commun

News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervo..., Elsevier BV

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle..., Elsevier BV

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state, Wiley

Differentiation of Mouse Enteric Nervous System Progenitor Cells Is Controlle..., Gastroenterology

A homozygousPAX3 mutation leading to severe presentation of Waardenburg syndr..., Wiley

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro..., Oxford University Press (OUP)

Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neuro..., Hum Mol Genet

Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness, Elsevier BV

Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome ty..., Springer Science and Business Media LLC

Novel and recurrent non-truncating mutations of the MITF basic domain: genoty..., Springer Science and Business Media LLC

Review and update of mutations causing Waardenburg syndrome, Hindawi Limited

Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4, Elsevier BV

The α1 subunit of nicotinic acetylcholine receptors in the inner ear: transcr..., Wiley

Gene expression profiling identifies Hes6 as a transcriptional target of ATO..., Wiley

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's d..., Springer Science and Business Media LLC

SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex ph..., Springer Science and Business Media LLC

A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is ..., BMJ

Mutation of the Sry-related Sox10 ge..., National Academy of Sciences

SOX10 mutations in patients with Waardenburg-Hirschsprung disease, Springer Science and Business Media LLC