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Mutation
Genetics
Comparative Genomic Hybridization
Phenotyping
Human Genetics
Medical Genetics
Clinical Genetics
Rare Diseases
Dysmorphology
Exome Sequencing
Research Interests
Papers共 511 篇Author StatisticsCo-AuthorSimilar Experts
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合作机构
Clara Houdayer,Kathleen Rooney,Liselot van der Laan,Céline Bris,Mariëlle Alders,Angela Bahr,Giulia Barcia, Clarisse Battault,Anais Begemann,Dominique Bonneau,Antoine Bonnevalle,Aicha Boughalem, Alice Bourges,Marie Bournez,Ange-Line Bruel, Daniela Buhas, Floriane Carallis,Benjamin Cogné,Valérie Cormier-Daire,Julian Delanne, Tanguy Demaret,Anne-Sophie Denommé-Pichon,Julie Désir,Christèle Dubourg,Mélanie Fradin,David Geneviève,Himanshu Goel,Alice Goldenberg,Karen W Gripp,Agnès Guichet,Anne Guimier,Adeline Jacquinet,Boris Keren, Louis Legoff,Michael A Levy,Haley McConkey,Bryce A Mendelsohn,Cyril Mignot, Vincent Milon,Mathilde Nizon,Beatrice Oneda,Laurent Pasquier,Olivier Patat,Christophe Philippe,Vincent Procaccio,Rebecca Procopio,Clément Prouteau, Thomas Rambaud,Anita Rauch,Raissa Relator,Sophie Rondeau,Gijs W E Santen,Jennifer Schleit,Arthur Sorlin,Katharina Steindl, Matt Tedder,Marine Tessarech,Frédéric Tran Mau-Them,Detlef Trost,Pleuntje J Van der Sluijs,Marie Vincent,Sandra Whalen,Christel Thauvin-Robinet,Bertrand Isidor,Bekim Sadikovic,Antonio Vitobello,Estelle Colin
European journal of human genetics EJHG (2025)
Amber S E van Oirsouw,Michael A Hadders, Martijn Koetsier, Edith D J Peters, Nurit Assia Batzir,Tahsin Stefan Barakat,Diana Baralle, Adelyn Beil,Marie-Noëlle Bonnet-Dupeyron,Philip M Boone,Arjan Bouman, Deanna Alexis Carere, Benjamin Cogne, Leslie Dunnington, Laura S Farach, Casie A Genetti,Bertrand Isidor, Louis Januel, Aakash Joshi,Nayana Lahiri, Kristen N Lee,Idit Maya,Meriel McEntagart,Hope Northrup, Mathilde Pujalte, Kate Richardson,Susan Walker, Bobby P C Koeleman,Mariëlle Alders, Richard H van Jaarsveld,Renske Oegema
Human molecular genetics (2025)
Aurélien Palmyre, Fairouz Koraichi,Flavie Ader,Erwan Donal, Céline Bordet,Pascal de Groote,Laurence Faivre,Patricia Reant, Annick Toutain,Karine Nguyen,Bertrand Isidor,Anne-Claire Brehin, Lise Legrand,Estelle Gandjbakhch, Julie Proukhnitzky, Richard Isnard,Nicolas Mansencal, Jean-François Pruny, Jean-Pierre Rabes,Bruno Francou, Catherine Caillaud,Pascale Richard,Philippe Charron
Orphanet Journal of Rare Diseasesno. 1 (2025): 1-7
Stephanie Efthymiou, Cailyn P Leo, Chenghong Deng,Sheng-Jia Lin,Reza Maroofian, Renee Lin, Irem Karagoz, Kejia Zhang,Rauan Kaiyrzhanov, Annarita Scardamaglia, Daniel Owrang, Valentina Turchetti, Friederike Jahnke, Kevin Huang,Cassidy Petree, Anna V Derrick, Mark I Rees,Javeria Raza Alvi,Tipu Sultan,Chumei Li, Marie-Line Jacquemont, Frederic Tran-Mau-Them, Maria Valenzuela-Palafoll, Rich Sidlow,Grace Yoon, Michelle M Morrow, Deanna Alexis Carere, Mary O'Connor, Julie Fleischer, Erica H Gerkes,Chanika Phornphutkul,Bertrand Isidor, Clotilde Rivier-Ringenbach, Christophe Philippe,Semra Hiz Kurul,Didem Soydemir,Bulent Kara,Deniz Sunnetci-Akkoyunlu, Viktoria Bothe,Konrad Platzer,Dagmar Wieczorek, Margarete Koch-Hogrebe, Nils Rahner,Ann-Charlotte Thuresson,Hans Matsson,Carina Frykholm, Sevcan Tuğ Bozdoğan,Atil Bisgin,Nicolas Chatron,Gaetan Lesca, Sara Cabet,Zeynep Tümer, Tina D Hjortshøj,Gitte Rønde,Thorsten Marquardt,Janine Reunert,Erum Afzal,Mina Zamani, Reza Azizimalamiri,Hamid Galehdari, Pardis Nourbakhsh, Niloofar Chamanrou, Seo-Kyung Chung,Mohnish Suri,Paul J Benke,Maha S Zaki,Joseph G Gleeson,Daniel G Calame,Davut Pehlivan, Halil I Yilmaz,Alper Gezdirici, Aboulfazl Rad, Iman Sabri Abumansour,Gabriela Oprea, Muhammed Burak Bereketoğlu, Guillaume Banneau,Sophie Julia,Jawaher Zeighami, Saeed Ashoori,Gholamreza Shariati,Alireza Sedaghat, Alihossein Sabri,Mohammad Hamid, Sahere Parvas, Tajul Arifin Tajudin,Uzma Abdullah,Shahid Mahmood Baig, Wendy K Chung, Olga O Glazunova,Sigaudy Sabine,Huma Arshad Cheema,Giovanni Zifarelli,Peter Bauer, Jai Sidpra,Kshitij Mankad,Barbara Vona, Andrew E Fry,Gaurav K Varshney,Henry Houlden,Dragony Fu
Camille Engel, Michaela Rendek, Jessica Assoumani,Emanuela Argilli,Francesca Ariani, Anne-Laude Avice-Denizet, Emilia K Bijlsmaa, Pierre Blanc, Lucia Pia Bruno,Bert Callewaert,Valeria Capra, Michele Carullo,Bertrand Chesneau,Sandra Coppens,Cynthia Curry,Breanne Dale, Eric Dahlen, Andrée Delahaye-Duriez, Anne-Sophie Denommé-Pichon,Bénédicte Demeer, Lenka Dvořáková, Jan Fischer,David Geneviève,Thea Giacomini, Mette M Handrup,Delphine Heron, Irina Hüning, Michelle Iacomino,Bertrand Isidor,Boris Keren,Stanislav Kmoch,David A Koolen, Andrea Kübler, Jana Laštůvková, Carolyn Le,Jonathan Levy, Caterina Lo Rizzo,Silvia Maitz,Sandrine Marlin,Cyril Mignot, Ghayda Mirzaa,Inga Nagel, Sebastian Neuens,Lenka Nosková,Emily Pao, Anna Pecková,Julie Plaisancie,Joseph Porrmann,Flavia Privitera,André Reis,Alessandra Renieri,Marlène Rio, Alyssa Rippert,Lukáš Ryba, Marcello Scala, Jolanda H Schieving,Elliott H Sherr, Andrew Shuen,Richard Sidlow, Thomas Smol,Julie Soblet,Pasquale Striano,Mohnish Suri, Hannes Syryn, Frédéric Tran Mau-Them, Andre M Travessa, Julien Van Gils,Georgia Vasileiou, Jolijn J A Verseput,Catheline Vilain,Catherine Vincent-Delorme,Emílie Vyhnálková, Emma L Wakeling,Pia Zacher,Federico Zara,Paul Kuentz,Juliette Piard
European journal of human genetics EJHG (2025)
Caroline Nava, Benjamin Cogne, Amandine Santini,Elsa Leitão,François Lecoquierre, Yuyang Chen,Sarah L Stenton,Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser,Boris Keren, Anne Faudet,Sylvie Forlani, Marie Faoucher, Kevin Uguen,Konrad Platzer,Alexandra Afenjar, Jean-Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoit Arveiler,Tania Attie-Bitach, Marion Aubert Mucca, Guillaume Banneau,Tahsin Stefan Barakat,Giulia Barcia,Stéphanie Baulac, Claire Beneteau, Fouzia Benkerdou, Virginie Bernard,Stéphane Bézieau,Dominique Bonneau,Marie-Noelle Bonnet-Dupeyron, Simon Boussion,Odile Boute, Elise Brischoux-Boucher, Samantha J Bryen,Julien Buratti, Tiffany Busa,Almuth Caliebe,Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon,Perrine Charles,John Christodoulou,Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault,Thomas Courtin, Madeline Couse,Charles Coutton, Isabelle Creveaux, Alissa M D'Gama,Benjamin Dauriat, Jean-Madeleine de Sainte Agathe,Giulia Del Gobbo, Andrée Delahaye-Duriez, Julian Delanne, Anne-Sophie Denommé-Pichon, Anne Dieux-Coeslier, Laura Do Souto Ferreira, Martine Doco-Fenzy, Stephan Drukewitz, Véronique Duboc,Christèle Dubourg,Yannis Duffourd, David Dyment,Salima El Chehadeh, Monique Elmaleh,Laurence Faivre, Samuel Fennelly, Hanna Fischer,Mélanie Fradin, Camille Galludec Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce-Samar,Alice Goldenberg, Romain Gonfreville Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras,John M Greally, Bianca Greiten, Paul Gueguen,Anne-Marie Guerrot,Saurav Guha,Anne Guimier,Tobias B Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz, Madeleine Harris,Julia Hentschel,Bénédicte Héron,Marc-Phillip Hitz,A Micheil Innes, Vincent Jadas, Louis Januel, Nolwenn Jean-Marçais,Vaidehi Jobanputra, Florence Jobic, Ludmila Jornea, Céline Jost,Sophie Julia,Frank J Kaiser, Daniel Kaschta, Sabine Kaya, Petra Ketteler, Bochra Khadija,Fabian Kilpert,Cordula Knopp,Florian Kraft, Ilona Krey, Marilyn Lackmy,Fanny Laffargue,Laetitia Lambert, Ryan Lamont,Vincent Laugel, Steven Laurie, Julie L Lauzon, Louis Lebreton,Marine Lebrun, Marine Legendre,Eric Leguern,Daphné Lehalle,Elodie Lejeune,Gaetan Lesca, Marion Lesieur-Sebellin, Jonathan Levy, Agnès Linglart,Stanislas Lyonnet, Kevin Lüthy, Alan S Ma, Corinne Mach,Jean-Louis Mandel, Lamisse Mansour-Hendili, Julien Marcadier, Victor Marin, Henri Margot, Valentine Marquet, Angèle May,Johannes A Mayr, Catherine Meridda, Vincent Michaud,Caroline Michot, Gwenael Nadeau,Sophie Naudion, Laetitia Nguyen,Mathilde Nizon, Frédérique Nowak,Sylvie Odent, Valerie Olin, Ikeoluwa A Osei-Owusu,Matthew Osmond,Katrin Õunap,Laurent Pasquier,Sandrine Passemard, Melissa Pauly, Olivier Patat, Marine Pensec, Laurence Perrin-Sabourin,Florence Petit, Christophe Philippe, Marc Planes,Annapurna Poduri,Céline Poirsier, Antoine Pouzet, Bradley Prince,Clément Prouteau,Aurora Pujol,Caroline Racine, Mélanie Rama, Francis Ramond, Kara Ranguin, Margaux Raway,André Reis,Mathilde Renaud,Nicole Revencu, Anne-Claire Richard, Lucile Riera-Navarro, Rocio Rius,Diana Rodriguez, Agustí Rodriguez-Palmero, Sophie Rondeau, Annika Roser-Unruh, Christelle Rougeot Jung,Hana Safraou,Véronique Satre,Pascale Saugier-Veber, Clément Sauvestre,Elise Schaefer, Wanqing Shao,Ina Schanze, Jan-Ulrich Schlump, Agatha Schlüter Martin,Caroline Schluth-Bolard,Sarah Schuhmann,Christopher Schröder, Monisha Sebastin,Sabine Sigaudy,Malte Spielmann,Marta Spodenkiewicz, Laura St Clair, Julie Steffann,Radka Stoeva,Harald Surowy, Mark A Tarnopolsky, Calina Todosi,Annick Toutain, Frédéric Tran Mau-Them, Astrid Unterlauft, Julien Van-Gils,Clémence Vanlerberghe,Georgia Vasileiou,Gabriella Vera, André Verdel,Alain Verloes, Yoann Vial,Cédric Vignal,Marie Vincent,Catherine Vincent-Delorme, Aline Vincent-Devulder,Antonio Vitobello,Sacha Weber,Marjolaine Willems, Khaoula Zaafrane-Khachnaoui,Pia Zacher, Lena Zeltner,Alban Ziegler,Wojciech P Galej,Hélène Dollfus, Christel Thauvin, Kym M Boycott, Pierre Marijon, Alban Lermine,Valérie Malan,Marlène Rio,Alma Kuechler,Bertrand Isidor,Séverine Drunat, Thomas Smol,Nicolas Chatron,Amélie Piton, Gael Nicolas,Matias Wagner,Rami Abou Jamra,Delphine Héron,Cyril Mignot, Pierre Blanc,Anne O'Donnell-Luria,Nicola Whiffin,Camille Charbonnier, Clément Charenton,Julien Thevenon,Christel Depienne
Nature geneticsno. 6 (2025): 1374-1388
Christopher C.Y. Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M.C. Chui, Mianne Lee, Fiona Leduc,Jennifer C. Dempsey, Pedro A. Sanchez-Lara, Hannah M. Bombei, John A. Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A. Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J. Low, Vianney Gilard,Jeanne Amiel, Angela E. Lin,Christopher T. Gordon,Dan Doherty, Peter M. Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H.Y. Chung
EBioMedicine (2025): 105677
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Mederic Jeanne, Nathalie Ronce, Solene Remize,Stephanie Arpin,Genevieve Baujat,Sylvain Breton,Florence Petit,Clemence Vanlerberghe,Anne Coeslier-Dieux,Sylvie Manouvrier-Hanu,Catherine Vincent-Delorme,Philippe Khau Van Kien,Julien Van-Gils,Chloe Quelin,Laurent Pasquier,Sylvie Odent,Florence Demurger,Fanny Laffargue,Christine Francannet,Dominique Martin-Coignard,Alexandra Afenjar,Sandra Whalen,Alain Verloes,Yline Capri,Andree Delahaye,Julie Plaisancie, Philippe Labrune,Anne Destree,Isabelle Maystadt, Viorca Ciorna Monferrato,Bertrand Isidor,Marie Vincent, Nolwen Jean Marcais,Sophie Nambot,Elise Schaefer,Salima El Chehadeh,James Lespinasse,Patrick Collignon,Tiffany Busa,Nicole Philip,Marjolaine Willems,Marc Planes, Olivier M. Vanakker,Laetitia Lambert,Bruno Leheup,Michele Mathieu-Dramard,Gilles Morin,Klaus Dieterich,Emmanuelle Ginglinger,Allan Bayat,Meena Balasubramanian,Benjamin Dauriat,Damien Haye,Jeanne Amiel,Marlene Rio, Valerie Cormier-Daire,Annick Toutain
Christopher C Y Mak,Hannah Klinkhammer,Sanaa Choufani, Nikola Reko, Angela K Christman, Elise Pisan, Martin M C Chui, Mianne Lee, Fiona Leduc,Jennifer C Dempsey, Pedro A Sanchez-Lara, Hannah M Bombei, John A Bernat,Laurence Faivre, Frederic Tran Mau-Them, Irene Valenzuela Palafoll,Natalie Canham,Ajoy Sarkar,Yuri A Zarate,Bert Callewaert, Ewelina Bukowska-Olech,Aleksander Jamsheer,Andreas Zankl,Marjolaine Willems, Laura Duncan,Bertrand Isidor, Benjamin Cogne,Odile Boute,Clémence Vanlerberghe,Alice Goldenberg, Elliot Stolerman, Karen J Low, Vianney Gilard,Jeanne Amiel, Angela E Lin,Christopher T Gordon,Dan Doherty, Peter M Krawitz,Rosanna Weksberg, Tzung-Chien Hsieh,Brian H Y Chung
EBioMedicine (2025): 105677-105677
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Author Statistics
#Papers: 509
#Citation: 12618
H-Index: 59
G-Index: 97
Sociability: 9
Diversity: 3
Activity: 104
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