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L

Laurent Villard

AP-HM

49H-index
316Paper Count
8.3KCitation Count
Published Papers 82
Publication Date
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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Imaging brain development in a KCNQ2-developmental and epileptic encephalopathy mouse model: identifying early biomarkers for functional and structural brain changes
erreBioMedicine
IF10.8
err2025-10-25
err0
errOAAI
errCharissa Millevert; Nicholas Vidas-Guscic; Mohit H. Adhikari; Alan Miranda; Liesbeth Vanherp; Laurent Villard; Elisabeth Jonckers; Philippe Joye; Johan Van Audekerke; Ignace Van Spilbeeck; Els De Vriendt; Marleen Verhoye; Steven Staelens; Daniele Bertoglio; Sarah Weckhuysen
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errSave
Long-term outcomes of a cohort of patients with pharmacoresistant neonatal epilepsy and negative brain MRI
errEpilepsia Open
IF2.9
err2025-08-30
err0
errOAAI
errThibault Beretti; William Rozalen; Laurent Villard; Florence Riccardi; Geraldine Daquin; Anne Lepine; Nathalie Villeneuve; Mathieu Milh; Béatrice Desnous
errShare
errSave
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients Referred for Genetic Diagnosis
errEuropean Journal of Neurology
IF3.9
err2025-08-08
err0
errOAAI
errJean-Madeleine de Sainte Agathe; Pauline Monin; Florence Riccardi; Caroline Nava; Lionel Arnaud; Cyril Mignot; Dorothée Ville; Stéphane Auvin; Sandrine Tardieu; Kathy Larcher; Isabelle Gourfinkel-An; Mathilde Canon; Vincent Navarro; Bénédicte Héron; Sophie Julia; Diane Doummar; Marie-Line Jacquemont; Hélène Maurey; Blandine Dozières-Puyravel; Laurence Perrin; Laurent Pasquier; Christèle Dubourg; Sylvie Odent; Abdelhakim Bouazzaoui; Wilfrid Carre; Mélanie Fradin; Florence Demurger; Nicolas Chatron; Damien Sanlaville; Miriam Essid; Vincent des Portes; Eleni Panagiotakaki; Anne-Lise Poulat; Clotilde Rivier; Catherine Sarret; Ganaëlle Remerand; Cecilia Altuzarra; Radka Stoeva; Sylvie Nguyen; Juliette Piard; Élise Boucher; Vincent Flurin; Anne-Marie Guerrot; Sylvie Joriot; Béatrice Desnous; Nathalie Villeneuve; Anne Lépine; Caroline Hachon-Le Camus; Laurent Villard; Marie Faoucher; Mathieu Milh; Gaëtan Lesca; Éric Leguern
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Long-term treatment with carbamazepine restores cognitive abilities in a mouse model of KCNQ2 developmental and epileptic encephalopathy
errEpilepsia Open
IF2.9
err2025-07-09
err0
errOAAI
errJordane Louis; Natalia Doudka; Marie-Solenne Félix; Adeline Spiga Ghata; Camille Espanet; Romain Guilhaumou; Mathieu Milh; Laurent Villard
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errSave
GABRA2-related encephalopathy: Identification of two phenotypes with distinctive electroclinical features
errEpilepsia
IF6.6
err2025-06-18
err0
errOAAI
errMarie Adamo-Croux; Chloé Angelini; Jérôme Aupy; Laurent Villard; Nathalie Villeneuve; Arnaud Chefdor; Yorsa Halleb; Maxime Colmard; Manon Degoutin; Gaetan Lesca; Perrine Charles; Boris Keren; Nicole Chemaly; Cyril Goizet; Mathieu Milh; Claire Bar
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errSave
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome
errEpilepsia
IF6.6
err2025-06-09
err0
errOAAI
errClément Pierret; Florence Riccardi; Julien Neveu; Marie Alesandrini; Cécilia Altuzarra; Sébastien Boulogne; Maryline Carneiro; Nicolas Chatron; Bertrand Isidor; Laure Lacan; Gaëtan Lesca; Sylvie Nguyen; Diana Rodriguez; Sabrine Souci; Stéphanie Valence; Laurent Villard; Mathieu Milh; Béatrice Desnous
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errSave
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-01-01
err1
PREAI
errSabeh, Pascale; Dumas, Samantha A.; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J.; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Mouhoub, Tarik Ait; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A.; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M.; Lesieur-Sebellin, Marion; Baujat, Genevieve; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R.; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, Andre; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A.; Briere, Lauren C.; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E.; Banne, Ethud; Parker, J. Alex; Burnett, Barrington G.; Campeau, Philippe M.
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Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability
errHUMAN MOLECULAR GENETICS
IF3.2
err2023-12-21
err1
PREAI
errKhosrowabadi, Elham; Mignon-Ravix, Cecile; Riccardi, Florence; Cacciagli, Pierre; Desnous, Beatrice; Sigaudy, Sabine; Milh, Mathieu; Villard, Laurent; Kjellen, Lena; Molinari, Florence
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errSave
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2023-06-21
err7
PREAI
errEngel, Camille; Valence, Stephanie; Delplancq, Geoffroy; Maroofian, Reza; Accogli, Andrea; Agolini, Emanuele; Alkuraya, Fowzan S.; Baglioni, Valentina; Bagnasco, Irene; Becmeur-Lefebvre, Mathilde; Bertini, Enrico; Borggraefe, Ingo; Brischoux-Boucher, Elise; Bruel, Ange-Line; Brusco, Alfredo; Bubshait, Dalal K.; Cabrol, Christelle; Cilio, Maria Roberta; Cornet, Marie-Coralie; Coubes, Christine; Danhaive, Olivier; Delague, Valerie; Denomme-Pichon, Anne-Sophie; Di Giacomo, Marilena Carmela; Doco-Fenzy, Martine; Engels, Hartmut; Cremer, Kirsten; Gerard, Marion; Gleeson, Joseph G.; Heron, Delphine; Goffeney, Joanna; Guimier, Anne; Harms, Frederike L.; Houlden, Henry; Iacomino, Michele; Kaiyrzhanov, Rauan; Kamien, Benjamin; Karimiani, Ehsan Ghayoor; Kraus, Dror; Kuentz, Paul; Kutsche, Kerstin; Lederer, Damien; Massingham, Lauren; Mignot, Cyril; Morris-Rosendahl, Deborah; Nagarajan, Lakshmi; Odent, Sylvie; Ormieres, Clothilde; Partlow, Jennifer Neil; Pasquier, Laurent; Penney, Lynette; Philippe, Christophe; Piccolo, Gianluca; Poulton, Cathryn; Putoux, Audrey; Rio, Marlene; Rougeot, Christelle; Salpietro, Vincenzo; Scheffer, Ingrid; Schneider, Amy; Srivastava, Siddharth; Straussberg, Rachel; Striano, Pasquale; Valente, Enza Maria; Venot, Perrine; Villard, Laurent; Vitobello, Antonio; Wagner, Johanna; Wagner, Matias; Zaki, Maha S.; Zara, Federizo; Lesca, Gaetan; Yassaee, Vahid Reza; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Beiraghi, Mehran; Ashrafzadeh, Farah; Galehdari, Hamid; Walsh, Christopher; Novelli, Antonio; Tacke, Moritz; Sadykova, Dinara; Maidyrov, Yerdan; Koneev, Kairgali; Shashkin, Chingiz; Capra, Valeria; Zamani, Mina; Van Maldergem, Lionel; Burglen, Lydie; Piard, Juliette
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NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant
errEPILEPSIA
IF6.6
err2023-04-17
err6
errOAAI
errMignon-Ravix, Cecile; Riccardi, Florence; Daquin, Geraldine; Cacciagli, Pierre; Lamoureux-Toth, Sylvie; Villard, Laurent; Villeneuve, Nathalie; Molinari, Florence
errShare
errSave
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2023-02-27
err1
errOAAI
errAbaji, Mario; Mignon-Ravix, Cecile; Gorokhova, Svetlana; Cacciagli, Pierre; Mortreux, Jeremie; Molinari, Florence; Chabrol, Brigitte; Sigaudy, Sabine; Villard, Laurent; Riccardi, Florence
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Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X
errNATURE COMMUNICATIONS
IF15.7
err2022-11-02
err21
errOAAI
errLeitao, Elsa; Schroeder, Christopher; Parenti, Ilaria; Dalle, Carine; Rastetter, Agnes; Kuehnel, Theresa; Kuechler, Alma; Kaya, Sabine; Gerard, Benedicte; Schaefer, Elise; Nava, Caroline; Drouot, Nathalie; Engel, Camille; Piard, Juliette; Duban-Bedu, Benedicte; Villard, Laurent; Stegmann, Alexander P. A.; Vanhoutte, Els K.; Verdonschot, Job A. J.; Kaiser, Frank J.; Mau-Them, Frederic Tran; Scala, Marcello; Striano, Pasquale; Frints, Suzanna G. M.; Argilli, Emanuela; Sherr, Elliott H.; Elder, Fikret; Buratti, Julien; Keren, Boris; Mignot, Cyril; Heron, Delphine; Mandel, Jean-Louis; Gecz, Jozef; Kalscheuer, Vera M.; Horsthemke, Bernhard; Piton, Amelie; Depienne, Christel
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errSave
Mouse models of Kcnq2 dysfunction
errEPILEPSIA
IF6.6
err2022-09-27
err7
errOAAI
errBrun, Lucile; Viemari, Jean-Charles; Villard, Laurent
errShare
errSave
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation
errEPILEPSIA
IF6.6
err2022-08-13
err44
errOAAI
errMaillard, Pierre-Yves; Baer, Sarah; Schaefer, Elise; Desnous, Beatrice; Villeneuve, Nathalie; Lepine, Anne; Fabre, Alexandre; Lacoste, Caroline; El Chehadeh, Salima; Piton, Amelie; Porter, Louise Frances; Perriard, Caroline; Warde, Marie-Therese Abi; Spitz, Marie-Aude; Laugel, Vincent; Lesca, Gaetan; Putoux, Audrey; Ville, Dorothee; Mignot, Cyril; Heron, Delphine; Nabbout, Rima; Barcia, Giulia; Rio, Marlene; Roubertie, Agathe; Meyer, Pierre; Paquis-Flucklinger, Veronique; Patat, Olivier; Lefranc, Jeremie; Gerard, Marion; de Bellescize, Julietta; Villard, Laurent; De Saint Martin, Anne; Milh, Mathieu
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Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2022-04-07
err8
errOAAI
errBrock, Stefanie; Laquerriere, Annie; Marguet, Florent; Myers, Scott J.; Hongjie, Yuan; Baralle, Diana; Vanderhasselt, Tim; Stouffs, Katrien; Keymolen, Kathelijn; Kim, Sukhan; Allen, James; Shaulsky, Gil; Chelly, Jamel; Marcorelle, Pascale; Aziza, Jacqueline; Villard, Laurent; Sacaze, Elise; de Wit, Marie C. Y.; Wilke, Martina; Mancini, Grazia Maria Simonetta; Hehr, Ute; Lim, Derek; Mansour, Sahar; Traynelis, Stephen F.; Beneteau, Claire; Denis-Musquer, Marie; Jansen, Anna C.; Fry, Andrew E.; Bahi-Buisson, Nadia
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Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
errGENETICS IN MEDICINE
IF6.2
err2021-11-01
err14
errOAAI
errIqbal, Maria; Maroofian, Reza; Cavdarli, Busranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal K.; Li, Yun; Hertecant, Jozef; Baig, Shahid Mahmood; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham Ul Haq; Ali, Zafar; de Almeida, Tobias Scherf; Molinari, Florence; Mignon-Ravix, Cecile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair T.; Jackson, Adam; Douzgou, Sofia; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid Mahmood; Sultan, Tipu; Alvi, Javeria Raza; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran Beiraghi; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan Ghayoor; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika A.; Budde, Birgit; Altmueller, Janine; Motameny, Susanne; Hoehne, Wolfgang; Houlden, Henry; Nuernberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan Sami; Osmond, Matthew; Hussain, Muhammad Sajid; Yigit, Gokhan
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Ultrasound-Mediated Blood-Brain Barrier Opening Improves Whole Brain Gene Delivery in Mice
errPHARMACEUTICS
IF5.5
err2021-08-12
err27
errOAAI
errFelix, Marie-Solenne; Borloz, Emilie; Metwally, Khaled; Dauba, Ambre; Larrat, Benoit; Matagne, Valerie; Ehinger, Yann; Villard, Laurent; Novell, Anthony; Mensah, Serge; Roux, Jean-Christophe
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A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2021-07-17
err10
errOAAI
errBen Jdila, Marwa; Mignon-Ravix, Cecile; Ben Ncir, Sihem; Kammoun, Fatma; Fakhfakh, Faiza; Villard, Laurent; Triki, Chahnez
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Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2021-04-02
err9
errOAAI
errAubert Mucca, Marion; Patat, Olivier; Whalen, Sandra; Arnaud, Lionel; Barcia, Giulia; Buratti, Julien; Cogne, Benjamin; Doummar, Diane; Karsenty, Caroline; Kenis, Sandra; Leguern, Eric; Lesca, Gaetan; Nava, Caroline; Nizon, Mathilde; Piton, Amelie; Valence, Stephanie; Villard, Laurent; Weckhuysen, Sarah; Keren, Boris; Mignot, Cyril
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Research Directions

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