Vincent Michaud (V Michaud)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 23

Top Venues

Journal of medical genetics

Genes

Pigment cell & melanoma research

Ophthalmic genetics

Centre Hospitalier Universitaire de Bordeaux

Université Paris Diderot (MSC)

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

Affiliation History

Centre Hospitalier Universitaire de Bordeaux Nov 01 2013

France

Medical Doctor :: Medical Genetics

Education History

Université Paris Diderot Sep 01 2017

France

MSC :: Sciences du vivant

Université de Bordeaux UFR des Sciences Médicales Nov 01 2013 - Apr 30 2019

France

PHD :: Medicine

Publications

Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel J Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily M Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler
Functional Characterization of Splice Variants in the Diagnosis of Albinism. International journal of molecular sciences 25 (16) (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics 61 (9) (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics 61 (9) (2024)
Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, Claudio Plaisant, Elina Mercier, Angèle Tingaud-Sequeira, Sophie Javerzat, Abdelaziz Hadid, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler
Genotypic spectrum of albinism in Mali. Pigment cell & melanoma research (2024)
Silvestre Cuinat, Chloé Quélin, Claire Effray, Christèle Dubourg, Gwenaelle Le Bouar, Anne-Sophie Cabaret-Dufour, Philippe Loget, Maia Proisy, Fanny Sauvestre, Mélie Sarreau, Sophie Martin-Berenguer, Claire Beneteau, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Aurélien Trimouille, Pierre Macé, Sabine Sigaudy, Olga Glazunova, Julia Torrents, Laure Raymond, Marie-Hélène Saint-Frison, Tania Attié-Bitach, Mathilde Becmeur-Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau Them, Ange-Line Bruel, Antonio Vitobello, Anne Sophie Denommé-Pichon, Laurence Olivier-Faivre, Anne-Claire Brehin, Alice Goldenberg, Sophie Patrier-Sallebert, Alexandre Perani, Benjamin Dauriat, Sylvie Bourthoumieu, Catherine Yardin, Valentine Marquet, Marion Barnique, Maryse Fiorenza-Gasq, Isabelle Marey, Danielle Tournadre, Raïa Doumit, Frédérique Nugues, Tahsin Stefan Barakat, Francisco Bustos, Sylvie Jaillard, Erika Launay, Laurent Pasquier, Sylvie Odent
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective. Journal of medical genetics (2024)
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan Sami Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, E Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric Le Guern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy K Chung, Kathryn Nicole Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
ARF1 -related disorder: phenotypic and molecular spectrum. Journal of medical genetics (2023)
Panagiotis I Sergouniotis, Vincent Michaud, Eulalie Lasseaux, Christopher Campbell, Claudio Plaisant, Sophie Javerzat, Ewan Birney, Simon C Ramsden, Graeme C Black, Benoit Arveiler
A multilayered approach to the analysis of genetic data from individuals with suspected albinism. Journal of medical genetics (2023)
Vincent Michaud, Angèle Tingaud-Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux-Coeslier, Fanny Morice-Picard, Juliette Coursimault, Benoit Arveiler, Sophie Javerzat
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment cell & melanoma research (2023)
R Lejoyeux, A-S Alonso, J Lafolie, Vincent Michaud, Eulalie Lasseaux, V Vasseur, S Derrien, M P Robert, Y Le Mer, R Tadayoni, Benoit Arveiler, M Mauget-Faÿsse
Foveal hypoplasia in parents of patients with albinism. Ophthalmic genetics (2022)
Danni Jin, Sheree A Wek, Ricardo A Cordova, Ronald C Wek, Didier Lacombe, Vincent Michaud, Karin Musier-Forsyth
Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness. Clinical genetics (2022)
Vincent Michaud, Eulalie Lasseaux, David J Green, Dave T Gerrard, Claudio Plaisant, null null, Tomas W Fitzgerald, Ewan Birney, Benoit Arveiler, Graeme C M Black, Panagiotis I Sergouniotis
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Nature communications 13 (1) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Emma Elizabeth Palmer, Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H Nguyen, Vanessa Suckow, Jessica Gibbons, Alva Hoff, Lisa Sigfrid, Andre Megarbane, Mathilde Nizon, Benjamin Cogné, Claire Beneteau, Fowzan Sami Alkuraya, Aziza Chedrawi, Mais O Hashem, Hannah Stamberger, Sarah Weckhuysen, Arnaud Vanlander, Berten Ceulemans, Sulekha Rajagopalan, Kenneth Nunn, Stéphanie Arpin, Martine Raynaud, Constance S Motter, Catherine Ward-Melver, Katrien Janssens, Marije Meuwissen, Diane Beysen, Nicola Dikow, Mona Grimmel, Tobias B Haack, Emma Clement, Amy McTague, David Hunt, Sharron Townshend, Michelle Ward, Linda J Richards, Cas Simons, Gregory Costain, Lucie Dupuis, Roberto Mendoza-Londono, Tracy Dudding-Byth, Jackie Boyle, Carol Saunders, Emily Fleming, Salima El Chehadeh, Marie-Aude Spitz, Amelie Piton, Bénédicte Gerard, Marie-Thérèse Abi Warde, Gillian Rea, Caoimhe McKenna, Sofia Douzgou, Siddharth Banka, Cigdem Akman, Jennifer M Bain, Tristan T Sands, Golder N Wilson, Erin J Silvertooth, Lauren Miller, Damien Lederer, Rani Sachdev, Rebecca Macintosh, Olivier Monestier, Deniz Karadurmus, Felicity Collins, Melissa Carter, Luis Rohena, Marjolein H Willemsen, Charlotte W Ockeloen, Rolph Pfundt, Sanne D Kroft, Michael J Field, Francisco E R Laranjeira, Ana M Fortuna, Ana Rita Soares, Vincent Michaud, Sophie Naudion, Sailaja Golla, David D Weaver, Lynne M Bird, Jennifer Friedman, Virginia Clowes, Shelagh Joss, Laura Pölsler, Philippe M Campeau, Maria Blazo, Emilia K Bijlsma, Jill A Rosenfeld, Christian Beetz, Zöe Powis, Kirsty McWalter, Tracy Brandt, Erin Torti, Mikaël Mathot, Shekeeb S Mohammad, Ruth Armstrong, Vera M Kalscheuer
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular psychiatry (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stephanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation. Genes 13 (12) (2022)
Edgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, Laura Planas-Serra, Irene de la Calle, Miquel Raspall-Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O'Leary, Emily O'Heir, Estibaliz Barredo, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruiz, Agatha Schlüter, Isabelle Rouvet, Julia Sala-Coromina, Chiara Fossati, Maria Iascone, Francesco Canonico, Anna Marcé-Grau, Precilla de Souza, David R Adams, Carlos Casasnovas, Heidi L Rehm, Heather C Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain : a journal of neurology 144 (9) (2021)
Emma Elizabeth Palmer, Chloe Whitton, Mais O Hashem, Robin D Clark, Subhadra Ramanathan, Lois J Starr, Danita Velasco, John Karl De Dios, Emily Singh, Valerie Cormier-Daire, Maya Chopra, Lance H Rodan, Christoffer Nellaker, Shenela Lakhani, Eric James Mallack, Karin Panzer, Alpa Sidhu, Ingrid M Wentzensen, Didier Lacombe, Vincent Michaud, Fowzan Sami Alkuraya
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum. Clinical genetics 100 (4) (2021)
Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler
A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. Platelets 32 (3) (2020)
Perrine Pennamen, Angèle Tingaud-Sequeira, Vincent Michaud, Fanny Morice-Picard, Claudio Plaisant, Catherine Vincent-Delorme, Fabienne Giuliano, Saba Azarnoush, Yline Capri, Carolina Marçon, Didier Lacombe, Eulalie Lasseaux, Benoit Arveiler
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome. Pigment cell & melanoma research 34 (1) (2020)
Vincent Michaud, Sabine Defoort-Dhellemmes, Isabelle Drumare, Perrine Pennamen, Claudio Plaisant, Eulalie Lasseaux, Benoit Arveiler
Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. Ophthalmic genetics 40 (2) (2019)
Eulalie Lasseaux, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Aurelien Trimouille, Laetitia Gaston, Solène Monfermé, Didier Lacombe, Caroline Rooryck, Fanny Morice-Picard, Benoit Arveiler
Molecular characterization of a series of 990 index patients with albinism. Pigment cell & melanoma research 31 (4) (2018)

Vincent Michaud.css-eqlu8i{font-size:small;padding-left:4px;} (V Michaud)

Publication Activity (10 Years)

Top Topics

Top Venues

Vincent Michaud (V Michaud)