Véronique Pingault

Hôpital Necker-Enfants Malades — France

Medicine · Health Sciences

31h-index4.6kcitations79works3.22yr avg
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Research Topics

Congenital gastrointestinal and neural anomalies(30), RNA regulation and disease(24), Cancer-related molecular mechanisms research(11), melanin and skin pigmentation(11), RNA Research and Splicing(8)

Publications76 total

De novo variants in LDB1 are linked to distinct neurodevelopmental phenotypes determined by variant location and differing pathomechanisms
2026Open Access
Criss cross heart: an outflow tract defect?
Orphanet Journal of Rare Diseases·2025Open Access
Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus
Clinical Genetics·2025Open Access
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
The American Journal of Human Genetics·2025· 1 citedOpen Access
Rare features in Feingold syndrome type 1
European Journal of Medical Genetics·2025· 1 citedOpen Access
Vestibular Deficit in Patients with Waardenburg Syndrome
Biomedicines·2025Open Access
Unilateral, bilateral symmetric or asymmetric isolated hearing loss in patients with heterozygous KITLG variants
Human Genetics·2025
Overexpression of Egr1 Transcription Regulator Contributes to Schwann Cell Differentiation Defects in Neural Crest-Specific Adar1 Knockout Mice
Cells·2024· 1 citedOpen Access
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay
Molecular Psychiatry·2024· 5 cited
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
European Journal of Human Genetics·2024· 3 citedOpen Access
Artificial intelligence‐based diagnosis in fetal pathology using external ear shapes
Prenatal Diagnosis·2024· 4 citedOpen Access
O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects
Genetics in Medicine Open·2024Open Access
Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants
Audiology Research·2023· 6 citedOpen Access
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
European Journal of Human Genetics·2023· 24 citedOpen Access
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
Frontiers in Pediatrics·2023· 8 citedOpen Access
A 22q13.1 duplication in mosaicism including <i>SOX10</i>
American Journal of Medical Genetics Part A·2023Open Access
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
The American Journal of Human Genetics·2023· 5 citedOpen Access
Investigating genotype‐to‐phenotype correlation in <scp>CHARGE</scp> syndrome by deep phenotyping and multiparametric clustering
Clinical Genetics·2023· 2 citedOpen Access
Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers
Stem Cell Research·2023Open Access
Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
Journal of Clinical Investigation·2023· 4 citedOpen Access
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Frequent Co-authors

Nadège Bondurand(27), Michel Goossens(15), Sandrine Marlin(13), Viviane Baral(11), Stanislas Lyonnet(9), Jeanne Amiel(8), Yuli Watanabe(7), Asma Chaoui(6), Michael Wegner(5), Tania Attié‐Bitach(5), Laure Lecerf(5), Kirsten Kuhlbrodt(4), N Lemort(4), M. Goossens(4), Renaud Touraine(4), Natalie Loundon(4), Christopher T. Gordon(4), Aldamaria Puliti(3), Laure Stanchina(3), Clarisse Baumann(3)