Véronique Pingault - Dissemin

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All papers authored by Véronique Pingault

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2023 Dong Li

ORCID

, Qin Wang, Allan Bayat, Mark R. Battig

ORCID

, Yijing Zhou, Daniëlle G. M. Bosch, Gijs van Haaften

ORCID

, Leslie Granger, Andrea K. Petersen, Luis A. Pérez-Jurado

ORCID

, Gemma Aznar-Laín, Anushree Aneja, Miroslava Hancarova, Sarka Bendova, Martin Schwarz and 139 other authors

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

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Thomas Husson

ORCID

, François Lecoquierre, Gaël Nicolas

ORCID

, Anne-Claire Richard, Alexandra Afenjar, Séverine Audebert-Bellanger, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noëlle Bonnet-Dupeyron, Elise Brischoux-Boucher

ORCID

, Céline Bonnet

ORCID

, Marie Bournez

ORCID

, Odile Boute and 89 other authors

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

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Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Stanislas Lyonnet and 9 other authors

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes

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William Bertani‐Torres

ORCID

, Margaux Serey‐Gaut

ORCID

, Judite de Oliveira, Christine Bole, Mélanie Parisot, Patrick Nistschké, Marie‐Laure Maurin, Jean‐Michel Lapierre, Natalie Loundon, Kahina Belhous, Nadège Bondurand

ORCID

, Sandrine Marlin

ORCID

, Véronique Pingault

ORCID

A 22q13.1 duplication in mosaicism including SOX10

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Manuela Morleo

ORCID

, Rossella Venditti, Evangelos Theodorou, Lauren C. Briere, Marion Rosello, Alfonsina Tirozzi, Roberta Tammaro, Nour Al-Badri, Frances A. High, Jiahai Shi, Elena Putti, Luigi Ferrante, Viviana Cetrangolo, Annalaura Torella, Melissa A. Walker and 316 other authors

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

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Mansour Alkobtawi, Patrick Pla, Brigitte Onteniente, Subham Seal, Véronique Pingault

ORCID

, Sandrine Marlin, Anne H. Monsoro-Burq

ORCID

Two induced pluripotent stem cell (iPSC) lines derived from patients affected by Waardenburg syndrome type 1 retain potential to activate neural crest markers

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Jérémy Dana

ORCID

, Guillaume Dorval, Christine Saint Martin, Kahina Belhous, Raphael Levy, Sandrine Marlin

ORCID

, Isabelle De Bie, Manon Mautret‐Godefroy, Antonio Rausell, Marlène Rio, Elise Boucher‐Brischoux

ORCID

, Tania Attié‐Bitach, Nathalie Boddaert, Véronique Pingault

ORCID

Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering

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This paper was not found in any repository, but could be made available legally by the author.

2022 Emmanuelle Ranza

ORCID

, Morgane Le Gouez, Anne Guimier, Naziha Khen Dunlop, Sylvie Beaudoin, Valérie Malan, Caroline Michot, Geneviève Baujat, Marlène Rio, Valérie Cormier‐Daire, Véronique Abadie

ORCID

, Sabine Sarnacki, Christophe Delacourt, Stanislas Lyonnet, Tania Attié‐Bitach and 3 other authors

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia

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Andrew K. Sobering, Laura M. Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M. Graham, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Julie Vogt, Jenny Morton, Charlotte Brasch-Andersen, Maria Steenhof, Lars Kjærsgaard Hansen and 25 other authors

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

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Nancy Vegas

ORCID

, Zeynep Demir, Christopher T. Gordon, Sylvain Breton, Vanessa L. Romanelli Tavares, Hugo Moisset, Roseli Zechi‐Ceide, Nancy M. Kokitsu‐Nakata, Yasuhiro Kido, Sandrine Marlin, Souad Gherbi Halem, Ilse Meerschaut, Bert Callewaert, Brian Chung

ORCID

, Nicole Revencu and 22 other authors

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

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M. Mouillé, M. Rio, S. Breton, M. L. Piketty, A. Afenjar, J. Amiel, Y. Capri, A. Goldenberg, C. Francannet, C. Michot, C. Mignot, L. Perrin, C. Quelin, J. Van Gils, G. Barcia and 4 other authors

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

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2021 Veronique Pingault

ORCID

, Lisa Zerad, William Bertani-Torres, Nadege Bondurand

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

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2020 Celine Banal, Eddy Quelennec, William Bertani-Torres, Nadjet Gacem, Jeanne Amiel, Sandrine Marlin, Florence Petit, Veronique Pingault

ORCID

, Nathalie Lefort, Nadege Bondurand

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

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Laura Castilla-Vallmanya, Kaja K. Selmer, Raquel Rabionet, Barbro Stadheim, Clémantine Dimartino, Sandra Yang, Margot Rf F. Reijnders, Bernardo Blanco-Sánchez, Antonie J. van Essen, Myriam Oufadem, Victoria Sanders, John Millichap, Magnus D. Vigeland, Antonio Vitobello, Christel Thauvin and 85 other authors

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

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This paper is made freely available by the publisher.

This paper is made freely available by the publisher.

Nadjet Gacem

ORCID

, Anthula Kavo, Lisa Zerad, Laurence Richard, Stephane Mathis

ORCID

, Raj P. Kapur, Melanie Parisot

ORCID

, Jeanne Amiel, Sylvie Dufour

ORCID

, Pierre de la Grange, Veronique Pingault

ORCID

, Jean Michel Vallat, Nadege Bondurand

ADAR1 mediated regulation of neural crest derived melanocytes and Schwann cell development

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2019 Anca G. Radu

ORCID

ORCID

, Florence Fauvelle, Karin Pernet-Gallay, Anthony Lucas, Renaud Blervaque, Véronique Delmas, Uwe Schlattner, Laurence Lafanechère

ORCID

, Pierre Hainaut, Nicolas Tricaud, Véronique Pingault

ORCID

, Nadège Bondurand, Nabeel Bardeesy

ORCID

ORCID

and 2 other authors

LKB1 specifies neural crest cell fates through pyruvate-alanine cycling

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2018 Nadege Bondurand, Sylvie Dufour, Veronique Pingault

ORCID

News from the endothelin-3/EDNRB signaling pathway: Role during enteric nervous system development and involvement in neural crest-associated disorders

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2017 C. T. Gordon

ORCID

ORCID

, Z. Demir, A. Goldenberg, M. Oufadem, N. Voisin, V. Pingault

ORCID

ORCID

, S. Lyonnet, L. de Pontual, J. Amiel

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

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