Université de Bordeaux
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Vincent MICHAUD - Admis au titre de docteur


Identifiant ORCID 000000025788392X

Doctorat Génétique


Thèse soutenue le 17 décembre 2024 - Université de Bordeaux

Ecole doctorale : Sciences de la Vie et de la Santé

Sujet : Analyse fonctionnelle de variants génétiques dans l'albinisme.

Mots-clés de la thèse : maladie rare d’origine génétique,albinisme,variants,modèles cellulaires,fonction,mélanogénèse,

Direction de thèse : Sophie JAVERZAT

Unité de recherche : Maladies Rares : Génétique et Métabolisme UMR 1211 - Bordeaux
Intitulé de l'équipe : Maladies Génétiques du développement

Master - Master II Recherche de Génétique

obtenu en juin 2018 - Université Paris-Diderot
Option : Génétique

Production scientifique

- Francesco Saettini, Fabiola Guerra, Mario Mauri, Claire G Salter, Margaret P Adam, David Adams, Emma L Baple0, Estibaliz Barredo, Sanil Bhatia, Arndt Borkhardt, Alfredo Brusco, Cristina Bugarin, Clizia Chinello, Andrew H Crosby, Precilla D'Souza, Vanna Denti, Grazia Fazio, Silvia Giuliani, Hye Sun Kuehn, Hassan Amel, Asha Elmi, Bernice Lo, Federica Malighetti, Giorgia Mandrile, Andrea Martín-Nalda, Heather C Mefford, Daniele Moratto, Fatemeh Emam Mousavi, Zoe Nelson, Luis González Gutiérrez-Solana, Ellen Macnamara, Vincent Michaud, Melanie O'Leary, Lisa Pagani, Lisa Pavinato, Patricia VVelez Santamaria, Laura Planas-Serra, Manuel Quadri, Miquel Raspall-Chaure, Stefano Rebellato, Sergio D Rosenzweig, Agathe Roubertie, Dirk Holzinger, Christin Deal, Catherine Walsh Vockley, Angela Maria Savino, Jennifer L Stoddard, Holm H Uhlig, Aurora Pujol, Fulvio Magni, Giuseppe Paglia, Gianni Cazzaniga, Rocco Piazza,, Matteo Barberi Andrea Biondi 2024. Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia   J Clin Immunol , Sep 23;45(1):15, https://pubmed.ncbi.nlm.nih.gov/39312004/
- Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Tania Attié-Bitach, Tugce Balci, Mouna Barat-Houari, Alyce Belonis, Odile Boute, Diana S Brightman, Ange-Line Bruel, Stefano Giuseppe Caraffi, Nicolas Chatron, Corinne Collet, William Dufour, Patrick Edery, Chin-To Fong, Carlo Fusco, Vincent Gatinois, Evan Gouy, Anne-Marie Guerrot, Solveig Heide, Aakash Joshi, Natalya Karp, Boris Keren, Marion Lesieur-Sebellin, Jonathan Levy, Michael A Levy, Claire Lozano, Stanislas Lyonnet, Henri Margot, Pauline Marzin, Haley McConkey, Vincent Michaud, Gaël Nicolas, Mevyn Nizard, Alix Paulet, Francesca Peluso, Vincent Pernin, Laurence Perrin, Christophe Philippe, Chitra Prasad, Madhavi Prasad, Raissa Relator, Marlène Rio, Sophie Rondeau, Valentin Ruault, Nathalie Ruiz-Pallares, Elodie Sanchez, Debbie Shears, Victoria Mok Siu, Arthur Sorlin, Matthew Tedder, Mylène Tharreau, Frédéric Tran Mau-Them, Liselot van der Laan, Julien Van Gils, Alain Verloes, Sandra Whalen, Marjolaine Willems, Kévin Yauy, Roberta Zuntini, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève 2024. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals   Genet Med ., Jan;26(1):101007., https://pubmed.ncbi.nlm.nih.gov/37860968/
- Vasily M Smirnov, Eulalie Lasseaux, Vincent Michaud, Cécile Courdier, Isabelle Meunier, Benoit Arveiler, Sabine Defoort-Dhellemmes 2024. Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia   Doc Ophthalmol , 2024 Jun 26, https://pubmed.ncbi.nlm.nih.gov/38922562/
- 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 Lefebvre, Yline Capri, Nicolas Bourgon, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Ange-Line Bruel, Antonio Vitobello, Anne-Sophie Denommé-Pichon, Laurence 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 2024. Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective   Journal of Medical Genetics, pp.jmg-2024-109854,
- Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj-Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler 2024. Functional Characterization of Splice Variants in the Diagnosis of Albinism   Int J Mol Sci ., 2024 Aug 8;25(16):8657, https://pubmed.ncbi.nlm.nih.gov/39201349/
- Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, Claudio Plaisant, Elina Mercier, Angèle Sequeira, Sophie Javerzat, Abdelaziz Hadid, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler 2024. Genotypic spectrum of albinism in Mali   Pigment Cell Melanoma Res ., 2024 May 9, https://pubmed.ncbi.nlm.nih.gov/38720644/
- Modibo Diallo, Ousmane Sylla, Mohamed Kole Sidibé, Claudio Plaisant, Elina Mercier, Angèle Sequeira, Sophie Javerzat, Abdelaziz Hadid, Eulalie Lasseaux, Vincent Michaud, Benoit Arveiler 2024. Genotypic spectrum of albinism in Mali   Pigment Cell & Melanoma research, , https://hal.science/hal-04681209v1
- Muriel Cario, Julie Scalia, Walid Mahfouf, Elodie Muzotte, Vincent Michaud, Claudio Plaisant, Jean-William Dupuy, Thierry Douki, Fanny Morice-Picard, Jérôme Rambert, Eric Perrier, Sandra Trompezinski, Hamid-Reza Rezvani 2024. Proteome characterization of XPC-deficient melanocytes generated by CRISPR-Cas9 technology reveals alteration in the expression of several hundred proteins   Journal of Dermatological Science, 114, pp.79-82,
- David J. Green, Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Graeme C. Black, Benoît Arveiler, Panagiotis I. Sergouniotis 2024. The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism   Nat Commun, 2024 Sept, https://www.medrxiv.org/content/10.1101/2023.01.19.23284597v2
- Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, 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 Leguern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N 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 2023. ARF1-related disorder: phenotypic and molecular spectrum   Journal of Medical Genetics, , https://hal.sorbonne-universite.fr/hal-04191246/document
- Panagiotis I Sergouniotis, Vincent Michaud , Eulalie Lasseaux, Christopher Campbell, Claudio Plaisant, Sophie Javerzat, Ewan Birney, Simon C Ramsden, Graeme C Black, Benoit Arveiler 2023. A multilayered approach to the analysis of genetic data from individuals with suspected albinism   J Med Genet ., 2023 Jul 17;jmg-2022-109088., https://pubmed.ncbi.nlm.nih.gov/37460203/
- Panagiotis I Sergouniotis, Vincent Michaud, Eulalie Lasseaux, Christopher Campbell, Claudio Plaisant, Sophie Javerzat, Ewan Birney, Simon C Ramsden, Graeme C Black, Benoit Arveiler 2023. A multilayered approach to the analysis of genetic data from individuals with suspected albinism.   Journal of Medical Genetics, 60, pp.1245-1249, https://hal.science/hal-04462059/document
- Danni Jin, Sheree A Wek, Ricardo A Cordova, Ronald C Wek, Didier Lacombe, Vincent Michaud, Karin Musier-Forsyth 2023. Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness   Clin Genet , 2023 Mar;103(3):358-363., https://pubmed.ncbi.nlm.nih.gov/36411955/
- Danni Jin, Sheree A Wek, Ricardo A Cordova, Ronald C Wek, Didier Lacombe, Vincent Michaud, Karin Musier-Forsyth 2023. Aminoacylation-defective bi-allelic mutations in human EPRS1 associated with psychomotor developmental delay, epilepsy, and deafness.   Clinical Genetics, 103, pp.358-363, https://hal.science/hal-04285062/document
- Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis , 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 LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N 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 2023. ARF1-related disorder: phenotypic and molecular spectrum   J Med Genet , 2023 Apr 25;jmg-2022-108803, https://pubmed.ncbi.nlm.nih.gov/37185208/
- Quentin Sabbagh, Sadegheh Haghshenas, Juliette Piard, Chloé Trouvé, Jeanne Amiel, Tania Attié-Bitach, Tugce Balci, Mouna Barat-Houari, Alyce Belonis, Odile Boute, Diana S. Brightman, Ange-Line Bruel, Stefano Giuseppe Caraffi, Nicolas Chatron, Corinne Collet, William Dufour, Patrick Edery, Chin-To Fong, Carlo Fusco, Vincent Gatinois, Evan Gouy, Anne-Marie Guerrot, Solveig Heide, Aakash Joshi, Natalya Karp, Boris Keren, Marion Lesieur-Sebellin, Jonathan Levy, Michael A. Levy, Claire Lozano, Stanislas Lyonnet, Henri Margot, Pauline Marzin, Haley Mcconkey, Vincent Michaud, Gaël Nicolas, Mevyn Nizard, Alix Paulet, Francesca Peluso, Vincent Pernin, Laurence Perrin, Christophe Philippe, Chitra Prasad, Madhavi Prasad, Raissa Relator, Marlène Rio, Sophie Rondeau, Valentin Ruault, Nathalie Ruiz-Pallares, Elodie Sanchez, Debbie Shears, Victoria Mok Siu, Arthur Sorlin, Matthew Tedder, Mylène Tharreau, Frédéric Tran Mau-Them, Liselot van der Laan, Julien van Gils, Alain Verloes, Sandra Whalen, Marjolaine Willems, Kévin Yauy, Roberta Zuntini, Jennifer Kerkhof, Bekim Sadikovic, David Geneviève 2023. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals   Genetics in Medicine, 26, pp.101007, https://hal.univ-lille.fr/hal-04646621v1
- Richard H van Jaarsveld 1, Jack Reilly 2, Marie-Claire Cornips 1, Michael A Hadders 3, Emanuele Agolini 4, Priyanka Ahimaz 5, Kwame Anyane-Yeboa 5, Severine Audebert Bellanger 6, Ellen van Binsbergen 1, Marie-Jose van den Boogaard 1, Elise Brischoux-Boucher 7, Raymond C Caylor 8, Andrea Ciolfi 9, Ton A J van Essen 10, Paolo Fontana 11, Saskia Hopman 1, Maria Iascone 12, Margaret M Javier 13, Erik-Jan Kamsteeg 14, Jennifer Kerkhof 15, Jun Kido 16, Hyung-Goo Kim 17, Tjitske Kleefstra 14, Fortunato Lonardo 11, Abbe Lai 18, Dorit Lev 19, Michael A Levy 15, M E Suzanne Lewis 13, Angie Lichty 8, Marcel M A M Mannens 20, Naomichi Matsumoto 21, Idit Maya 22, Haley McConkey 23, Andre Megarbane 24, Vincent Michaud 25, Evelina Miele 26, Marcello Niceta 9, Antonio Novelli 4, Roberta Onesimo 27, Rolph Pfundt 14, Bernt Popp 28, Eloise Prijoles 8, Raissa Relator 15, Sylvia Redon 29, Dmitrijs Rots 14, Karen Rouault 29, Ken Saida 21, Jolanda Schieving 30, Marco Tartaglia 9, Romano Tenconi 31, Kevin Uguen 6, Nienke Verbeek 1, Christopher A Walsh 32, Keren Yosovich 33, Christopher J Yuskaitis 34, Giuseppe Zampino 35, Bekim Sadikovic 36, Mariëlle Alders 37, Renske Oegema 2023. Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature   Genet Med, 2023 Jan;25(1):49-62., https://pubmed.ncbi.nlm.nih.gov/36322151/
- R Lejoyeux 1, A-S Alonso 2, J Lafolie 2, V Michaud 3, E Lasseaux 3, V Vasseur 2, S Derrien 1 2, M P Robert 4, Y Le Mer 1, R Tadayoni 1, B Arveiler 3, M Mauget-Faÿsse 2023. Foveal hypoplasia in parents of patients with albinism   Ophthalmic Genet, 2022 Dec;43(6):817-823, https://pubmed.ncbi.nlm.nih.gov/36098180/
- Elizabeth E Palmer # 1 2, Michael Pusch # 3, Alessandra Picollo 4, Caitlin Forwood 5, Matthew H Nguyen 6 7, Vanessa Suckow 8, Jessica Gibbons 8, Alva Hoff 4 9, Lisa Sigfrid 4 9, Andre Megarbane 10 11, Mathilde Nizon 12 13, Benjamin Cogné 12 13, Claire Beneteau 12, Fowzan S Alkuraya 14, Aziza Chedrawi 15, Mais O Hashem 14, Hannah Stamberger 16 17, Sarah Weckhuysen 16 17 18, Arnaud Vanlander 19, Berten Ceulemans 20, Sulekha Rajagopalan 7, Kenneth Nunn 21, Stéphanie Arpin 22, Martine Raynaud 22, Constance S Motter 23, Catherine Ward-Melver 23, Katrien Janssens 24, Marije Meuwissen 24, Diane Beysen 25, Nicola Dikow 26, Mona Grimmel 27, Tobias B Haack 27, Emma Clement 28, Amy McTague 29 30, David Hunt 31, Sharron Townshend 32, Michelle Ward 32, Linda J Richards 33 34, Cas Simons 35 36, Gregory Costain 37, Lucie Dupuis 37, Roberto Mendoza-Londono 37, Tracy Dudding-Byth 38 39, Jackie Boyle 38, Carol Saunders 40 41, Emily Fleming 42, Salima El Chehadeh 43 44, Marie-Aude Spitz 45, Amelie Piton 46, Bénédicte Gerard 46, Marie-Thérèse Abi Warde 45 47, Gillian Rea 48, Caoimhe McKenna 48, Sofia Douzgou 49 50, Siddharth Banka 50 51, Cigdem Akman 52, Jennifer M Bain 52, Tristan T Sands 52, Golder N Wilson 53, Erin J Silvertooth 54, Lauren Miller 55, Damien Lederer 56, Rani Sachdev 5 6, Rebecca Macintosh 5 6, Olivier Monestier 56, Deniz Karadurmus 56, Felicity Collins 57, Melissa Carter 58, Luis Rohena 59 60, Marjolein H Willemsen 61, Charlotte W Ockeloen 61, Rolph Pfundt 61, Sanne D Kroft 62, Michael Field 38, Francisco E R Laranjeira 63, Ana M Fortuna 64, Ana R Soares 64, Vincent Michaud 65 66, Sophie Naudion 65, Sailaja Golla 67, David D Weaver 68, Lynne M Bird 69, Jennifer Friedman 69, Virginia Clowes 70 71, Shelagh Joss 72, Laura Pölsler 73, Philippe M Campeau 74, Maria Blazo 75, Emilia K Bijlsma 76, Jill A Rosenfeld 77 78, Christian Beetz 79, Zöe Powis 80, Kirsty McWalter 81, Tracy Brandt 81, Erin Torti 81, Mikaël Mathot 82, Shekeeb S Mohammad 21 83, Ruth Armstrong 84, Vera M Kalscheuer 85 2023. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition   Mol Psychiatry, 2023 Feb;28(2):668-697. , https://pubmed.ncbi.nlm.nih.gov/36385166/
- Elizabeth E 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 S. 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 Field, Francisco E R Laranjeira, Ana M Fortuna, Ana R 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 2023. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.   Molecular Psychiatry, 28, pp.668-697, https://hal.science/hal-04284872/document
- Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M Campeau, Johannes Münch 7, Henrike Heyne 13, Anne Hoffmann 14, Adhideb Ghosh 15, Wenfei Sun 15, Hua Dong 15, Falko Noé 15, Christian Wolfrum 15, Emily Woods 16, Michael J Parker 16, Ruxandra Neatu 4, Gwenael Le Guyader 17, Ange-Line Bruel 18, Laurence Perrin 19, Helena Spiewak 20; Genomics England Research Consortium; Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A Paolucci, Jillian G Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A Sayer, Jan Halbritter 2023. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions   Am J Hum Genet , 2023 Jun 1;110(6):998-1007, https://pubmed.ncbi.nlm.nih.gov/37207645/
- Ria Schönauer, Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura Alice Devlin, Jill Murrell, Emma C Bedoukian, Linda Pöschla, Elena Hantmann, Korbinian M Riedhammer, Julia Hoefele, Konrad Platzer, Ronald Biemann, Philipp M Campeau, Johannes Münch, Henrike Heyne, Anne Hoffmann, Adhideb Ghosh, Wenfei Sun, Hua Dong, Falko Noé, Christian Wolfrum, Emily Woods, Michael J Parker, Ruxandra Neatu, Gwenael Le Guyader, Ange-Line Bruel, Laurence Perrin, Helena Spiewak, Isabelle Missotte, Melanie Fourgeaud, Vincent Michaud, Didier Lacombe, Sarah A Paolucci, Jillian G Buchan, Margaret Glissmeyer, Bernt Popp, Matthias Blüher, John A Sayer, Jan Halbritter 2023. Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.   American Journal of Human Genetics, 110, pp.998-1007,
- Paul-Henri Seguy, Jean-Francois Korobelnik, Marie-Noelle Delyfer, Vincent Michaud, Benoit Arveiler, Eulalie Lasseaux, Sarra Gattoussi, Marie-Benedicte Rougier, Kilian Trin, Fanny Morice-Picard, Nathalie Ghomashchi, Valentine Coste 2023. Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center   Investigative Ophthalmology & Visual Science, 64, pp.26, https://hal.science/hal-04460168/document
- Fanny Mochel, Domitille Gras, Marie-Pierre Luton, Manon Nizou, Donatella Giovannini, Caroline Delattre, Mélodie Aubart, Magalie Barth, Anne de Saint-Martin, Diane Doummar, Nouha Essid, Alexa Garros, Caroline Hachon Le Camus, Celia Hoebeke, Sylvie Nguyen The Tich, Maximilien Perivier, Serge Rivera, Anne Rolland, Agathe Roubertie, Catherine Sarret, Caroline Sevin, Dorothee Ville, Marc Sitbon, Jean-Marc Costa, Roser Pons, Angels Garcia-Cazorla, Sandrine Vuillaumier, Vincent Petit, Odile Boespflug-Tanguy, Darryl C de Vivo, Isabelle An, Laurent Bailly, David Bendetowicz, Perrine Charles, Cécile Delorme, Sophie Demeret, Camille Giron, Solveig Heide, Anna Heinzmann, Mathilde Lalaude, Aurélie Méneret, Nicolas Mezouar, Marie-Lorraine Monin, Linda Mouthon, Emmanuel Roze, Clément Tarrano, Nicolas Villain, Elise Yazbeck, Stéphane Auvin, Lydie Da Costa, Blandine Dozières, Vincent Des Portes, Zeynep Gokce-Samar, Eleni Panagiotakaki, Sabrine Souci, Joseph Toulouse, Céline Bellesme, Hélène Maurey, Lucie Salah, Thierry Billette de Villemeur, Pauline Garzon, Bénédicte Héron, Arnaud Isapof, Marie-Christine Nougues, Claudia Ravelli, Florence Renaldo, Diana Rodriguez, Stéphanie Valence, Marie-Thérèse Dangles, Pascale de Lonlay, Isabelle Desguerre, Chloé Durrleman, Marie Hully, Francesca Albertini, Aline Cano, Brigitte Chabrol, Julie Chavany, Elsa Kaphan, Stanislas Lagarde, Nathalie Villeneuve, Justine Avez-Couturier, Laurence Chaton, Jean-Christophe Cuvellier, Rabha Dehak, Florence Flamein Ballay, Valentine Floret, Ganaëlle Remérand, Marie-Thérèse Abi Warde, Mathieu Anheim, Yvan de Feraudy, Odile Gebus, Caroline Perriard, Marie-Aude Spitz, Mirna Khalil, Cécilia Marelli Tosi, Blanca Mercedes Alvarez, Pierre Meyer, Sarai Urtiaga Valle, Mathilde Canon, Christine Ioos, Caroline Espil, Marie Husson, Cyril Goizet, Vincent Michaud, Jean-Michel Pedespan, Léna Damaj, Sarah Hadjadj, Alinoë Lavillaureix, Jean-Marie Lepage, Mélissa Ugolin, Rachel Froget, Cécile Laroche, Claude Cancès, Yu Jin Salel, Agnès Viguier, Laure Mazzola, Laurine Perrin, Gérard Besson, Fanny Dubois, Elodie Lametery, Coralie Jacquet, Loïc de Pontual, Pierre Castelnau, Emmanuelle Lagrue, Marc Gibaud, Mondher Chouchane, Véronique Darmency, Clémence Fauconnier Fatus, Claire Bilbault, Anne Charlotte Cullier, Jacinthe Mekary, Jawida Touhami, Marie-Elodie Baer, Nadine Litou, Simon Samaan, Christophe Béesau, Floriane Bitaudeau, Christelle Cousin, Elodie Desport, Lynda Djouadi, Yasmine Hamadi, Emeline Lebreton, Sandra Moriceau 2023. Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome   Neurology, 100, pp.e2360-e2373, https://hal.science/hal-04347222/document
- Vincent Michaud, Angèle Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj-Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux-Coeslier, Fanny Morice-Picard, Juliette Coursimault, Benoît Arveiler, Sophie Javerzat 2023. Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism   PCMR, 2023, https://www.medrxiv.org/content/10.1101/2023.07.07.23292371v1
- Vincent Michaud, Angèle 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 2023. 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, , https://hal.science/hal-04461334/document
- Didier Lacombe 1, Julien Van-Gils 2, Marine Lebrun 3, Aurélien Trimouille 2, Vincent Michaud 4, Sara Cabet 5, Jean-François Chateil 6, Jean-Michel Pedespan 7, Claire Bar 8, Gaetan Lesca 9 2022. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders   Brain Dev, 24;S0387-7604(22)00082-1, https://pubmed.ncbi.nlm.nih.gov/35623960/
- Didier Lacombe, Julien Van-Gils, Marine Lebrun, Aurélien Trimouille, Vincent Michaud, Sara Cabet, Jean-François Chateil, Jean-Michel Pedespan, Claire Bar, Gaetan Lesca 2022. Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.   Brain and Development, 44, pp.567-570,
- Francesco Miceli 1, Charissa Millevert 2, Maria Virginia Soldovieri 3, Ilaria Mosca 3, Paolo Ambrosino 4, Lidia Carotenuto 1, Dewi Schrader 5, Hyun Kyung Lee 6, James Riviello 7, William Hong 8, Sarah Risen 9, Lisa Emrick 10, Hitha Amin 11, Dorothée Ville 12, Patrick Edery 13, Julitta de Bellescize 14, Vincent Michaud 15, Julien Van-Gils 15, Cyril Goizet 16, Marjolein H Willemsen 17, Tjitske Kleefstra 18, Rikke S Møller 19, Allan Bayat 19, Orrin Devinsky 20, Tristan Sands 21, G Christoph Korenke 22, Gerhard Kluger 23, Heather C Mefford 24, Eva Brilstra 25, Gaetan Lesca 26, Mathieu Milh 27, Edward C Cooper 28, Maurizio Taglialatela 29, Sarah Weckhuysen 30 2022. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism   EBioMedicine, 81:104130, https://pubmed.ncbi.nlm.nih.gov/35780567/
- Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothee Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H Willemsen, Tjitske Kleefstra, Rikke S Møller, Orrin Devinsky, Tristan Sands, G Christoph Korenke, Gerhard Kluger, Heather C Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C Cooper, Sarah Weckhuysen 2022. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism.   EBioMedicine, 81, pp.104130, https://hal.science/hal-04151914/document
- Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu Robert, Valentine Coste, Vincent Michaud, Stéphanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia 2022. Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation   Genes, 13, pp.2198, https://hal.science/hal-04550320/document
- Ester Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, Matthieu P Robert, Valentine Coste, Vincent Michaud, Stéphanie Leclerc-Mercier, Dominique Bremond-Gignac, Benoit Arveiler, Smail Hadj-Rabia 2022. Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation   Genes (Basel) ., 2022 Nov 23;13(12):2198. , https://pubmed.ncbi.nlm.nih.gov/36553465/
- Felix Marbach, Beata S. Lipska-Zietkiewicz, Agata Knurowska, Vincent Michaud, Henri Margot, James Lespinasse, Frederic Tran Mau Them, Christine Coubes, Joohyun Park, Sarah Grosch, Cristiana Roggia, Ute Grasshoff, Louisa Kalsner, Anne-Sophie Denomme-Pichon, Alexandra Afenjar, Benedicte Heron, Boris Keren, Pilar Caro, Christian P. Schaaf 2022. Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome   American Journal of Medical Genetics Part A, 188, pp.2627-2636, https://hal.science/hal-03819128/document
- Felix Marbach,Beata S. Lipska-Ziętkiewicz,Agata Knurowska,Vincent Michaud,Henri Margot,James Lespinasse,Frédéric Tran Mau Them,Christine Coubes,Joohyun Park,Sarah Grosch,Cristiana Roggia,Ute Grasshoff,Louisa Kalsner,Anne-Sophie Denommé-Pichon,Alexandra Afenjar,Bénédicte Héron,Boris Keren,Pilar Caro,Christian P. Schaaf 2022. Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome   American Journal of Medical Genetics Part A, Online, https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62884
- Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black & Panagiotis I. Sergouniotis 2022. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism   Nature Communications , 13, 3939, https://www.nature.com/articles/s41467-022-31392-3
- Vincent Michaud, Eulalie Lasseaux, David Green, Dave T Gerrard, Claudio Plaisant, Tomas Fitzgerald, Ewan Birney, Benoit Arveiler, Graeme C Black, Panagiotis I Sergouniotis 2022. The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.   Nature Communications, 13, pp.3939, https://hal.science/hal-04151766/document
- Angèle Tingaud-Sequeira 1,Elina Mercier 1,Vincent Michaud 1,2,Benoît Pinson 3ORCID,Ivet Gazova 4,Etienne Gontier 5ORCID,Fanny Decoeur 5,Lisa McKie 4,Ian J. Jackson 4,Benoît Arveiler 1,2 andSophie Javerzat 1,*ORCID 2022. The Dct−/− Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism   Genes, 2022 13(7), https://www.mdpi.com/2073-4425/13/7/1164
- Angèle Tingaud-Sequeira, Elina Mercier, Vincent Michaud, Benoît Pinson, Ivet Gazova, Etienne Gontier, Fanny Decoeur, Lisa Mckie, Ian Jackson, Benoît Arveiler, Sophie Javerzat 2022. The Dct/ Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism   Genes, 13, pp.1164,
- Christelle Durand, Chloé Angelini, Vincent Michaud, Claire Delleci, Isabelle Coupry, Cyril Goizet, Aurelien Trimouille 2022. Whole-exome sequencing confirms implication of VPS13D as a potential cause of progressive spastic ataxia   BMC Neurology, 22, pp.53, https://www.hal.inserm.fr/inserm-03689896/document
- Vincent Michaud, Mathieu Fiore, Valentine Coste, Yoann Huguenin, Jean-Claude Bordet, Claudio Plaisant, Eulalie Lasseaux, Fanny Morice-Picard, Benoit Arveiler 2021. A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies   Platelets, 32, pp.420-423,
- 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 Oleary, Emily Oheir, 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 Adams, Carlos Casasnovas, Heidi Rehm, Heather Mefford, Luis González Gutierrez-Solana, Alfredo Brusco, Michel Koenig, Alfons Macaya, Aurora Pujol 2021. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy   Brain - A Journal of Neurology, , https://hal.archives-ouvertes.fr/hal-03327833/document
- Elizabeth E. 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 J. Mallack, Karin Panzer, Alpa Sidhu, Ingrid M. Wentzensen, Didier Lacombe, Vincent Michaud, Fowzan S. Alkuraya 2021. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum   Clinical Genetics, 100, pp.468-477,
- Florence Riccardi, Alexandre Astier, Margot Grisval, Arnaud Maillard, Vincent Michaud, Catherine Badens, Christopher T. Gordon, Aurelien Trimouille, Laurence Faivre, Jeanne Amiel, Sabine Sigaudy, Svetlana Gorokhova 2021. Correspondence on « De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females » by Polla et al.   Genetics in Medicine, 23, pp.2003-2004,
- Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-Them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty Mcwalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amélie Piton, Bénédicte Gerard 2021. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.   Journal of medical genetics, ,
- Audrey Schalk, Margot A Cousin, Nikita R Dsouza, Thomas D Challman, Karen E Wain, Zoe Powis, Kelly Minks, Aurélien Trimouille, Eulalie Lasseaux, Didier Lacombe, Chloé Angelini, Vincent Michaud, Julien Van-Gils, Nino Spataro, Anna Ruiz, Elizabeth Gabau, Elliot Stolerman, Camerun Washington, Ray Louie, Brendan C Lanpher, Jennifer L Kemppainen, Micheil Innes, Frank Kooy, Marije Meuwissen, Alice Goldenberg, Francois Lecoquierre, Gabriella Vera, Karin E M Diderich, Beth Sheidley, Christelle Moufawad El Achkar, Meredith Park, Fadi F Hamdan, Jacques L Michaud, Ann J Lewis, Christiane Zweier, André Reis, Matias Wagner, Heike Weigand, Hubert Journel, Boris Keren, Sandrine Passemard, Cyril Mignot, Koen van Gassen, Eva H Brilstra, Gina Itzikowitz, Emily O'Heir, Jake Allen, Kirsten A Donald, Bruce Richard Korf, Tammi Skelton, Michelle Thompson, Nathaniel H Robin, Natasha L Rudy, William B Dobyns, Kimberly Foss, Yuri Alexander Zarate, Katherine A Bosanko, Yves Alembik, Benjamin Durand, Frederic Tran Mau-Them, Emmanuelle Ranza, Xavier Blanc, Stylianos E Antonarakis, Kirsty Mcwalter, Erin Torti, Francisca Millan, Amy Dameron, Mari Tokita, Michael T Zimmermann, Eric W Klee, Amélie Piton, Bénédicte Gerard 2021. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.   Journal of Medical Genetics, , https://hal.science/hal-03697474/document
- Perrine Pennamen, Angele Tingaud-Sequeira, Iveta Gazova, Margaret Keighren, Lisa Mckie, Sandrine Marlin, Souad Gherbi Halem, Josseline Kaplan, Cedric Delevoye, Didier Lacombe, Claudio Plaisant, Vincent Michaud, Eulalie Lasseaux, Sophie Javerzat, Ian Jackson, Benoit Arveiler 2021. Dopachrome tautomerase variants in patients with oculocutaneous albinism   Genetics in Medicine, 23, pp.479-487,
- Perrine Pennamen, Angele Tingaud-Sequeira, Vincent Michaud, Fanny Morice-Picard, Claudio Plaisant, Catherine Vincent-Delorme, Fabienne Giuliano, Saba Azarnoush, Yline Capri, Carolina Marcon, Didier Lacombe, Eulalie Lasseaux, Benoit Arveiler 2021. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome   Pigment Cell & Melanoma research, 34, pp.132-135,
- Benoit Arveiler, Vincent Michaud, Eulalie Lasseaux 2020. Albinism: An Underdiagnosed Condition   Journal of Investigative Dermatology, 140, pp.1449 - 1451, https://hal.archives-ouvertes.fr/hal-03490221/document
- Perrine Pennamen 1 2 , Linh Le 3 4 5 , Angèle Tingaud-Sequeira 1 , Mathieu Fiore 6 7 , Anne Bauters 8 , Nguyen Van Duong Béatrice 9 , Valentine Coste 10 , Jean-Claude Bordet 11 , Claudio Plaisant 2 , Modibo Diallo 1 , Vincent Michaud 2 , Aurélien Trimouille 1 2 , Didier Lacombe 1 2 , Eulalie Lasseaux 2 , Cédric Delevoye 12 13 , Fanny Morice Picard 14 , Bruno Delobel 15 , Michael S Marks 3 4 , Benoit Arveiler 16 17 2020. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome   Genet Med, 2020 Oct;22(10):1613-1622. , https://pubmed.ncbi.nlm.nih.gov/32565547/
- Perrine Pennamen, Linh Le, Angele Tingaud-Sequeira, Mathieu Fiore, Anne Bauters, Nguyen van Duong Beatrice, Valentine Coste, Jean-Claude Bordet, Claudio Plaisant, Modibo Diallo, Vincent Michaud, Aurélien Trimouille, Didier Lacombe, Eulalie Lasseaux, Cedric Delevoye, Fanny Morice Picard, Bruno Delobel, Michael S Marks, Benoit Arveiler 2020. BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.   Genetics in Medicine, 22, pp.1613-1622,
- Pauline Bataille 1 , Vincent Michaud 2 , Matthieu P Robert 3 , Lilia Bekel 1 , Stéphanie Leclerc-Mercier 4 , Annie Harroche 5 , Charlotte Célérier 6 , Eulalie Lasseaux 2 , Delphine Borgel 5 , Dominique Bremond-Gignac 3 , Christine Bodemer 1 , Benoit Arveiler 2 7 , Smaïl Hadj-Rabia 2020. Clinical variability and probable founder effect in oculocutaneous albinism type 7   Clin Genet, 2020 Mar;97(3):527-528, https://pubmed.ncbi.nlm.nih.gov/31694064/
- Pauline Bataille, Vincent Michaud, Matthieu P Robert, Lilia Bekel, Stéphanie Leclerc-Mercier, Annie Harroche, Charlotte Celerier, Eulalie Lasseaux, Delphine Borgel, Dominique Bremond-Gignac, Christine Bodemer, Benoit Arveiler, Smaïl Hadj-Rabia 2020. Clinical variability and probable founder effect in oculocutaneous albinism type 7.   Clinical Genetics, 97, pp.527-528,
- Fanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, Hamid Reza Rezvani, Claudio Plaisant, Didier Bessis, Christine Leauté-Labrèze, Benoit Arveiler, Alain Taieb, Aurélien Trimouille, Franck Boralevi 2020. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis   Journal of Investigative Dermatology, 140, pp.1289 - 1292.e2,
- Fanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, Hamid Reza Rezvani, Claudio Plaisant, Didier Bessis, Christine Leauté-Labrèze, Benoit Arveiler, Alain Taieb, Aurélien Trimouille, Franck Boralevi 2020. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis   Journal of Investigative Dermatology, 140, pp.1289 - 1292.e2, https://hal.science/hal-03490218/document
- Thibaut Matis 1 , Vincent Michaud 1 , Julien Van-Gils 1 , Virginie Raclet 1 , Claudio Plaisant 1 , Patricia Fergelot 1 , Eulalie Lasseaux 1 , Benoit Arveiler 1 , Aurélien Trimouille 1 2020. Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report   J Gene Med, 2020 Aug;22(8):e3197, https://pubmed.ncbi.nlm.nih.gov/32246869/
- Vincent Michaud 2019. Analyses démographiques, phénotypiques et génétiques dune cohorte de 692 patients atteints d'albinisme Demographic, phenotypic and genetic analyses of a cohort of 692 patients affected with albinism   , pp.111, https://dumas.ccsd.cnrs.fr/dumas-02124737/document
- Vincent Michaud 1 , Sabine Defoort-Dhellemmes 2 , Isabelle Drumare 2 , Perrine Pennamen 1 3 , Claudio Plaisant 1 , Eulalie Lasseaux 1 , Benoit Arveiler 1 2019. Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism   Ophthalmic Genet, 2019 Apr;40(2):161-164, https://pubmed.ncbi.nlm.nih.gov/30942644/
- Clothilde Godillot 1 , Maella Severino-Freire, Vincent Michaud, Franck Boralevi, Christine Labrèze, Vincent Guigonis, Giuliana Onnis, Fanny Morice-Picard, Juliette Mazereeuw-Hautier 2019. Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg   Acta Derm Venereol, 2019 Sep 1;99(10):921-922. , https://pubmed.ncbi.nlm.nih.gov/31099403/
- Solène Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, Christian Hamel, Sabine Defoort-Dhellemmes, Isabelle Drumare, Xavier Zanlonghi, Helene Dollfus, Yaurama Perdomo, Dominique Bonneau, Jean-Francois Korobelnik, Claudio Plaisant, Vincent Michaud, Perrine Pennamen, Caroline Rooryck-Thambo, Fanny Morice-Picard, Clement Paya, Benoit Arveiler 2019. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene   British Journal of Ophthalmology, 103, pp.1239-1247,
- Eulalie Lasseaux 1 , Claudio Plaisant 1 , Vincent Michaud 1 , Perrine Pennamen 1 2 , Aurelien Trimouille 1 2 , Laetitia Gaston 1 , Solène Monfermé 3 , Didier Lacombe 1 2 , Caroline Rooryck 1 2 , Fanny Morice-Picard 4 , Benoît Arveiler 1 2 2018. Molecular characterization of a series of 990 index patients with albinism   Pigment Cell Melanoma Research, 2018 Jul;31(4):466-474., https://pubmed.ncbi.nlm.nih.gov/29345414/
- Vincent Michaud 1 , Eulalie Lasseaux 1 , Claudio Plaisant 1 , Alain Verloes 2 , Yaumara Perdomo-Trujillo 3 , Christian Hamel 4 , Nursel H Elcioglu 5 6 , Bart Leroy 7 , Josseline Kaplan 8 , Pierre-Simon Jouk 9 , Didier Lacombe 1 10 , Patricia Fergelot 1 10 , Fanny Morice-Picard 1 11 , Benoit Arveiler 1 10 2017. Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS   Pigment Cell Melanoma Research, 2017 Jan;30(6):563-570, https://pubmed.ncbi.nlm.nih.gov/28640947/
- Alice Goldenberg, Florence Riccardi, Aude Tessier, Rolph Pfundt, Tiffany Busa, Pierre Cacciagli, Yline Capri, Charles Coutton, Andrée Delahaye-Duriez, Thierry Frébourg, Vincent Gatinois, Anne-Marie Guerrot, David Geneviève, Francois Lecoquierre, Aurelia Jacquette, Philippe Khau van Kien, Bruno Leheup, Sandrine Marlin, Alain Verloes, Vincent Michaud, Gwenaël Nadeau, Cyril Mignot, Philippe Parent, Massimiliano Rossi, Annick Toutain, Elise Schaefer, Christel Thauvin-Robinet, Lionel van Maldergem, Julien Thevenon, Véronique Satre, Laurence Perrin, Catherine Vincent-Delorme, Arthur Sorlin, Chantal Missirian, Laurent Villard, Julien Mancini, Pascale Saugier-Veber, Nicole Philip 2016. Clinical and Molecular Findings in 39 Patients with KBG Syndrome Caused by Deletion or Mutation of ANKRD11   American Journal of Medical Genetics Part A, 170, pp.2847-2859,
- Stéphanie Grégoire, Vincent Michaud, Eric Chapuy, Alain Eschalier, Denis Ardid 2012. Study of emotional and cognitive impairments in mononeuropathic rats: Effect of duloxetine and gabapentin   Pain, 153, pp.1657-1663,
- Stéphanie Grégoire 1 , Vincent Michaud, Eric Chapuy, Alain Eschalier, Denis Ardid 2012. Study of emotional and cognitive impairments in mononeuropathic rats: effect of duloxetine and gabapentin   Pain, 2012 Aug;153(8):1657-1663, https://pubmed.ncbi.nlm.nih.gov/22664319/

Langues Vivantes : Anglais C1 - Avancé - Français C2 - Maternel - Espagnol A2 - Élémentaire
Dernière mise à jour le 19 novembre 2024