Laurent Villard

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 19

Top Venues

Epilepsia

European journal of human genetics : EJHG

Human molecular genetics

Brain sciences

INSERM U 1251

Aix-Marseille Université (PHD)

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

Affiliation History

INSERM U 1251

France

Aix Marseille University :: Marseille Medical Genetics Center

Education History

Aix-Marseille Université

France

PHD

Publications

Elham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, Pierre Cacciagli, Béatrice Desnous, Sabine Sigaudy, Mathieu Milh, Laurent Villard, Lena Kjellén, Florence Molinari
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability. Human molecular genetics 33 (6) (2024)
Cécile Mignon-Ravix, Florence Riccardi, Géraldine Daquin, Pierre Cacciagli, Sylvie Lamoureux-Toth, Laurent Villard, Nathalie Villeneuve, Florence Molinari
NAPB and developmental and epileptic encephalopathy: description of the electro-clinical profile associated to a novel pathogenic variant. Epilepsia (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Elham Khosrowabadi, Cécile Mignon-Ravix, Florence Riccardi, Pierre Cacciagli, Béatrice Desnous, Sabine Sigaudy, Mathieu Milh, Laurent Villard, Lena Kjellén, Florence Molinari
Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability. Human molecular genetics (2023)
Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P A Stegmann, Els K Vanhoutte, Job A J Verdonschot, Frank J Kaiser, Frédéric Tran Mau Them, Marcello Scala, Pasquale Striano, Suzanna G M Frints, Emanuela Argilli, Elliott H Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M Kalscheuer, Bernhard Horsthemke, Amelie Piton, Christel Depienne
Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X. Nature communications 13 (1) (2022)
Pierre-Yves Maillard, Sarah Baer, Élise Schaefer, Beatrice Desnous, Nathalie Villeneuve, Anne Lépine, Alexandre Fabre, Caroline Lacoste, Salima El Chehadeh, Amélie Piton, Louise Frances Porter, Caroline Perriard, Marie-Thérèse Abi Wardé, Marie-Aude Spitz, Vincent Laugel, Gaëtan Lesca, Audrey Putoux, Dorothee M Ville, Cyril Mignot, Delphine Héron, Rima Nabbout, Giulia Barcia, Marlène Rio, Agathe Roubertie, Pierre Meyer, Véronique Paquis-Flucklinger, Olivier Patat, Jérémie Lefranc, Marion Gerard, null null, Julietta de Bellescize, Laurent Villard, Anne De Saint Martin, Mathieu Milh
Molecular and clinical descriptions of patients with GABA A receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation. Epilepsia 63 (10) (2022)
Lucile Brun, Jean-Charles Viemari, Laurent Villard
Mouse models of Kcnq2 dysfunction. Epilepsia 63 (11) (2022)
Emilie Borloz, Laurent Villard, Jean-Christophe Roux
Rett syndrome: think outside the (skull) box. Faculty reviews 10 (2021)
Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian Ozmore, Alessandro Mauro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Levy, Agnes Guet, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne McCabe, Elise Brischoux-Boucher, Annick Raas-Rothschild, Antonella Pini, Renée Carroll, Jessica N Hartley, null null, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Jennifer Carroll, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gecz, Laurent Villard
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European journal of human genetics : EJHG 29 (9) (2021)
Siddharth Srivastava, Erica L Macke, Lindsay C Swanson, David Coulter, Eric W Klee, Sureni V Mullegama, Yili Xie, Brendan C Lanpher, Emma C Bedoukian, Cara M Skraban, Laurent Villard, Mathieu Milh, Mary L O Leppert, Julie S Cohen
Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain sciences 11 (7) (2021)
Yann Ehinger, Valerie Matagne, Valérie Cunin, Emilie Borloz, Michel Seve, Sandrine Bourgoin-Voillard, Ana Borges-Correia, Laurent Villard, Jean-Christophe Roux
Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome. International journal of molecular sciences 22 (9) (2021)
Bilal El Waly, Cécile Mignon-Ravix, Pierre Cacciagli, Emmanuelle Buhler, Bruria Ben Zeev, Laurent Villard
Molecular characterization of a 1p36 chromosomal duplication and in utero interference define ENO1 as a candidate gene for polymicrogyria. European journal of human genetics : EJHG 28 (12) (2020)
Marina Trivisano, Alessandro Ferretti, Jurriaan M Peters, Linda Huh, Gaëtan Lesca, Aleksandra Siekierska, Ryo Takeguchi, Maryline Carneiro, Luca De Palma, Ilaria Guella, Kazuhiro Haginoya, Ruo Ming Shi, Atsuo Kikuchi, Tomoko Kobayashi, Julien Jung, Lieven Lagae, Mathieu Milh, Marie L Mathieu, Berge A Minassian, Antonio Novelli, Nicola Pietrafusa, Eri Takeshita, Marco Tartaglia, Alessandra Terracciano, Michelle L Thompson, Gregory M Cooper, Federico Vigevano, Laurent Villard, Nathalie Villeneuve, Gunnar M Buyse, Michelle Demos, Ingrid E Scheffer, Nicola Specchio
Defining the phenotype of FHF1 developmental and epileptic encephalopathy. Epilepsia 61 (7) (2020)
Jérémy Verneuil, Cécile Brocard, Virginie Trouplin, Laurent Villard, Julie Peyronnet-Roux, Frédéric Brocard
The M-current works in tandem with the persistent sodium current to set the speed of locomotion. PLoS biology 18 (11) (2020)
Mathieu Milh, Pierre Roubertoux, Najoua Biba, Julie Chavany, Adeline Spiga Ghata, Camille Fulachier, Stephan Christopher Collins, Christel Wagner, Jean-Christophe Roux, Binnaz Yalcin, Marie-Solenne Félix, Florence Molinari, Pierre-Pascal Lenck-Santini, Laurent Villard
A knock-in mouse model for KCNQ2-related epileptic encephalopathy displays spontaneous generalized seizures and cognitive impairment. Epilepsia 61 (5) (2020)
Elisa Frullanti, Filomena Tiziana Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri
Analysis of the Phenotypes in the Rett Networked Database. International journal of genomics 2019 (2019)
Cécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, Jens Daniel, Florence Riccardi, Pierre Cacciagli, Majdi Nagara, Tiffany Busa, Eva Liebau, Laurent Villard
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst. Human mutation 39 (7) (2018)
Jeremie Mortreux, Tiffany Busa, Dominique P Germain, Gwenaël Nadeau, Jacques Puechberty, Christine Coubes, Vincent Gatinois, Pierre Cacciagli, Yannis Duffourd, Jean-Marc Pinard, Hélène Tevissen, Laurent Villard, Damien Sanlaville, Nicole Philip, Chantal Missirian
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability. European journal of human genetics : EJHG 26 (1) (2017)
Affef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, Nadine Girard, Mathieu Milh, Laurent Villard
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient. European journal of human genetics : EJHG 24 (4) (2015)

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Publication Activity (10 Years)

Top Topics

Top Venues

Laurent Villard