Veronique Pingault
Overview
Explore the profile of Veronique Pingault including associated specialties, affiliations and a list of published articles.
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Articles
46
Citations
942
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Recent Articles
1.
Serey-Gaut M, Balogoun R, Jonard L, Lina-Granade G, Touraine R, Willems M, et al.
Hum Genet
. 2025 Feb;
PMID: 39918572
KITLG pathogenic variants have been associated to three distinct clinical presentations with different combinations of hearing loss and/or pigmentation abnormalities. However, its involvement in isolated hearing loss has not been...
2.
Zerad L, Gacem N, Gayda F, Day L, Sinigaglia K, Richard L, et al.
Cells
. 2024 Dec;
13(23).
PMID: 39682701
Adenosine deaminase acting on RNA 1 (ADAR1) is the principal enzyme for the adenosine-to-inosine RNA editing that prevents the aberrant activation of cytosolic nucleic acid sensors by endogenous double stranded...
3.
Tan S, Zhang Q, Zhan R, Luo S, Han Y, Yu B, et al.
Mol Psychiatry
. 2024 Oct;
PMID: 39472663
De novo variants adjacent to the canonical splicing sites or in the well-defined splicing-related regions are more likely to impair splicing but remain under-investigated in autism spectrum disorder (ASD). By...
4.
Pingault V, Neiva-Vaz C, de Oliveira J, Martinez-Gil N, Lasa-Aranzasti A, Campos B, et al.
Eur J Hum Genet
. 2024 Sep;
33(1):131-136.
PMID: 39333427
Oculo-auriculo-vertebral spectrum (OAVS) is characterized by abnormal development of the 1st and 2nd branchial arches. Despite arguments against a monogenic condition, a few genes have been involved in a minority...
5.
Hennocq Q, Garcelon N, Bongibault T, Bouygues T, Marlin S, Amiel J, et al.
Prenat Diagn
. 2024 Apr;
44(10):1150-1158.
PMID: 38635411
Objective: Here we trained an automatic phenotype assessment tool to recognize syndromic ears in two syndromes in fetuses-=CHARGE and Mandibulo-Facial Dysostosis Guion Almeida type (MFDGA)-versus controls. Method: We trained an...
6.
Bertani-Torres W, Lezirovitz K, Alencar-Coutinho D, Pardono E, da Costa S, Antunes L, et al.
Audiol Res
. 2024 Feb;
14(1):9-25.
PMID: 38391765
Waardenburg syndrome (WS) is characterized by hearing loss and pigmentary abnormalities of the eyes, hair, and skin. The condition is genetically heterogeneous, and is classified into four clinical types differentiated...
7.
Li D, Wang Q, Bayat A, Battig M, Zhou Y, Bosch D, et al.
J Clin Invest
. 2023 Nov;
134(1).
PMID: 37962958
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic...
8.
Husson T, Lecoquierre F, Nicolas G, Richard A, Afenjar A, Audebert-Bellanger S, et al.
Eur J Hum Genet
. 2023 Oct;
32(2):190-199.
PMID: 37872275
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised...
9.
Hennocq Q, Bongibault T, Marlin S, Amiel J, Attie-Bitach T, Baujat G, et al.
Front Pediatr
. 2023 Sep;
11:1171277.
PMID: 37664547
Introduction: Mandibulo-Facial Dysostosis with Microcephaly (MFDM) is a rare disease with a broad spectrum of symptoms, characterized by zygomatic and mandibular hypoplasia, microcephaly, and ear abnormalities. Here, we aimed at...
10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschke P, et al.
Am J Med Genet A
. 2023 Aug;
191(12):2813-2818.
PMID: 37533297
Waardenburg syndrome (WS) is characterized by the association of sensorineural hearing loss and pigmentation abnormalities. Among the four types, WS Type 2 (WS2) is the only one without a remarkable...