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We are interested in the clinical and molecular delineation of rare genetic conditions
Research Interests
Papers共 256 篇Author StatisticsCo-AuthorSimilar Experts
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Marissa J Maroni, Melissa Barton, Katherine Lynch,Ashish R Deshwar, Philip D Campbell, Josephine Millard, Rachel Lee, Annastelle Cohen, Rili Ahmad,Alekh Paranjapye, Víctor Faundes,Gabriela M Repetto,Caoimhe McKenna, Amelle L Shillington,Chanika Phornphutkul, Hanne B Hove, Grazia M S Mancini,Rachel Schot,Tahsin Stefan Barakat, Christopher M Richmond,Julie Lauzon, Ahmed Ibrahim Elsayed Ibrahim,Caroline Nava,Delphine Héron, Minke M A van Aalst, Slavena Atemin, Mila Sleptsova,Iliyana Aleksandrova,Albena Todorova, Debra L Watkins, Mariya A Kozenko,Daniel Natera-de Benito, Carlos Ortez, Berta Estevez-Arias,François Lecoquierre,Kévin Cassinari,Anne-Marie Guerrot,Jonathan Levy,Xenia Latypova,Alain Verloes,A Micheil Innes, Xiao-Ru Yang,Siddharth Banka,Katharina Vill, Maureen Jacob, Michael Kruer, Peter Skidmore, Carolina I Galaz-Montoya,Somayeh Bakhtiari, Jessica L Mester,Michael Granato,Karim-Jean Armache, Gregory Costain,Erica Korb
Brain a journal of neurology (2025)
Alanna Strong, Caoimhe McKenna,Karen Stals,Antonio Vitobello, Mathilde Renaud,Claudine Rieubland,Michel Guipponi, Christophe Philippe, Paul Vrana, Alisa Gaskell,A Micheil Innes, Alyssa L Rippert, Rebecca Ahrens-Nicklas,Elizabeth Bhoj, Kiersten Keller,Bimal P Chaudhari, Brandon S Stone
American journal of medical genetics Part App.e64119-e64119, (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
EMBO JOURNALno. 2 (2025): 413-436
Yingxi Wang, Eleanor I Sams,Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy,Ying-Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth Appelbaum, Titilope Akinwe, Rodrigo Starosta Tzovenos, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K Ng, Andrew Emory, Laura Metz, Tracie DeLuca, Katherine N Lyons, Toni Sinnwell, Brianne Thomeczek, Kymme Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine King,Christina A Gurnett, Susan K Dutcher, Catherine Gooch, Yang E Li, Matthew W Mitchell, Kevin A Peterson, Amjad Horani, Jill A Rosenfeld,Weimin Bi,Pawel Stankiewicz,Hsiao-Tuan Chao, Jennifer Posey, Christopher M Grochowski, Zain Dardas, Erik Puffenberger, Christopher E Pearson,Frank Kooy, Dale Annear,A Micheil Innes, Michael Heinz, Richard Head,Robert Fulton, Stephan Toutain, 9P-ARCH, Lucinda Antonacci-Fulton,Xiaoxia Cui, Robi D Mitra,F Sessions Cole,Julie Neidich, Patricia I Dickson,Jeffrey Milbrandt, Tychele N Turner
medRxiv the preprint server for health sciences (2025)
Michael P Mackley,Julie Richer,Andrea Guerin, Oana Caluseriu,Linlea Armstrong, Katherine A Blood, Francois Bernier, Christie Boswell-Patterson, Marisa Chard,Gregory Costain, David Dyment,Alison Eaton,Hanna Faghfoury,Patrick Frosk, Meredith K Gillespie, Elaine S Goh,Robin Z Hayeems,Bita Hashemi,A Micheil Innes, Molly Jackson,Anne-Marie Laberge,Jacqueline Limoges,Christian Marshall, Hugh McMillan,Tanya N Nelson, Matthew Osmond, Jillian Parboosingh, Lynette Penney, Bradley Prince,Sarah L Sawyer,Victoria Mok Siu,Mary Ann Thomas,Lesley Turner, Noémie Villeneuve-Cloutier,Taila Hartley, Kym M Boycott
Genetics in medicine official journal of the American College of Medical Geneticspp.101465-101465, (2025)
Marissa J Maroni, Melissa Barton, Katherine Lynch,Ashish R Deshwar, Philip Campbell, Josephine Millard,Rachel Lee, Annastelle Cohen,Alekh Paranjapye,Víctor Faundes,Gabriela M Repetto,Caoimhe McKenna, Amelle L Shillington,Chanika Phornphutkul,Grazia Ms Mancini,Rachel Schot,Tahsin Stefan Barakat,Christopher M Richmond,Julie Lauzon, Ahmed Ibrahim Elsayed Ibrahim,Daniel Natera-de Benito,Carlos Ortez,Berta Estevez-Arias,François Lecoquierre,Kévin Cassinari,Anne-Marie Guerrot,Jonathan Levy,Xenia Latypova,Alain Verloes,A Micheil Innes,Xiao-Ru Yang,Siddharth Banka, Katharina Vill,Maureen Jacob,Michael Kruer, Peter Skidmore, Carolina I Galaz-Montoya,Somayeh Bakhtiari,Jessica L Mester,Michael Granato,Karim-Jean Armache,Gregory Costain,Erica Korb
Henri Margot,Adrien Pizano,Anouck Amestoy,Didier Lacombe, Camille Berges,Claire Beneteau,A. Micheil Innes
Tamar Harel, Camille Spicher,Elisabeth Scheer,Jillian G. Buchan, Jennifer Cech,Chiara Folland,Tanja Frey,Alexander M. Holtz,A. Micheil Innes,Boris Keren,William L. Macken,Carlo Marcelis,Catherine E. Otten, Sarah A. Paolucci,Florence Petit,Rolph Pfundt,Robert D. S. Pitceathly,Anita Rauch,Gianina Ravenscroft, Rani Sanchev,Katharina Steindl,Femke Tammer,Amanda Tyndall,Didier Devys,Stephane D. Vincent,Orly Elpeleg,Laszlo Tora
BRAINno. 8 (2024): 2732-2744
Florian Kraft,Piere Rodriguez-Aliaga, Weimin Yuan, Lena Franken, Kamil Zajt,Dimah Hasan,Ting-Ting Lee,Elisabetta Flex,Andreas Hentschel,A. Micheil Innes, Bixia Zheng, Dong Sun Julia Suh,Cordula Knopp,Eva Lausberg, Jeremias Krause, Xiaomeng Zhang,Pamela Trapane, Riley Carroll, Martin Mcclatchey,Andrew E. Fry, Lisa Wang,Sebastian Giesselmann,Hieu Hoang,Dustin Baldridge,Gary A. Silverman,Francesca Clementina Radio,Enrico Bertini,Andrea Ciolfi,Katherine A. Blood,Jean-Madeleine de Sainte Agathe,Perrine Charles,Gaber Bergant,Goran Cuturilo,Borut Peterlin,Karin Diderich,Haley Streff,Laurie Robak,Renske Oegema,Ellen van Binsbergen,John Herriges,Carol J. Saunders,Andrea Maier,Stefan Wolking,Yvonne Weber,Hanns Lochmuller, Stefanie Meyer, Alberto Aleman,Kiran Polavarapu,Gael Nicolas,Alice Goldenberg, Lucie Guyant,Kathleen Pope, Katherine N. Hehmeyer,Kristin G. Monaghan,Annegret Quade,Thomas Smol,Roseline Caumes,Sarah Duerinckx,Chantal Depondt,Wim Van Paesschen,Claudine Rieubland, Claudia Poloni,Michel Guipponi, Severine Arcioni,Marije Meuwissen,Anna C. Jansen,Jessica Rosenblum,Tobias B. Haack,Miriam Bertrand, Lea Gerstner,Janine Magg,Olaf Riess,Joerg B. Schulz,Norbert Wagner,Martin Wiesmann,Joachim Weis,Thomas Eggermann,Matthias Begemann,Andreas Roos,Martin Haeusler,Tim Schedl,Marco Tartaglia,Juliane Bremer,Stephen C. Pak,Judith Frydman,Miriam Elbracht,Ingo Kurth
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Author Statistics
#Papers: 256
#Citation: 10699
H-Index: 56
G-Index: 99
Sociability: 8
Diversity: 3
Activity: 43
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