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Papers共 23 篇Author StatisticsCo-AuthorSimilar Experts

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The Recurrent P.ser470phe Gain-of-function Variant in DCAF15 Leads to Cornelia De Lange Syndrome by Targeting SMC3 for Aberrant Ubiquitination
Sahar Da'as,Frederic Ebstein, Constance Wells, Aymeric Masson, Julien Paccaud, Waseem Hassan, Sixto Garcia-Minaur, Emi Rikeros Orozco,Elena Mansilla, Mamen Sanchez-Gomez,Miranda Splitt,Ruth Richardson, Florent Fuchs,Yannis Duffourd, Raissa Relator, Elke Krueger, Christophe Philippe,Laurence Faivre, Christel Thauvin-Robinet, Bekim Sadikovic, Maria Palomares-Bralo,Khalid Fakhro,Antonio Vitobello
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 12-12
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Prenatal Exome Sequencing, a Powerful Tool to Describe Unreported Prenatal Features of Monogenic Disorders
Aurore Garde, Frederic Tran Mau-Them,Yannis Duffourd,Antonio Vitobello, Christophe Philippe, Christel Thauvin-Robinet,Laurence Faivre,Nicolas Bourgon
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 107-108
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Interest of Exome Sequencing in Non-Syndromic Specific Learning Disorders: a French Pilot Study
Eleonore Viora-Dupont,Julian Delanne,Aurore Garde,Sophie Nambot,Estelle Colin,Marie Bournez, Clemence Fauconnier-Fatus, Celine Bernard, Aurelie Espitalier, Christine Binquet, Marion Bouctot, Marie-Laure Humbert, Anne-Sophie Briffaut, Veronique Darmency, Patricia Plumet, Noemie Relin,Patrick Callier, Anne-Laure Mosca-Boidron,Nathalie Marle, Frederic Tran Mau Them, Anne-Sophie Denomme-Pichon,Hana Safraou,Antonio Vitobello, Ange-Line Bruel, Christophe Philippe, Christel Thauvin-Robinet,Laurence Faivre
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 195-195
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Uncertainty in Prenatal Molecular Diagnosis : Dual Diagnosis in Two Fetuses As New Challenges for Further Debate on Reporting Policies
Maud Favier,Julian Delanne, Guillaume Gorincour,Yannis Duffourd,Antonio Vitobello,Aurore Garde,Laurence Faivre, Christophe Philippe,Thierry Rousseau,Aude Tessier,Georges Tarris, Camelia Oualiken, Christel Thauvin-Robinet, Frederic Tran Mau Them
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 103-103
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Germline Mutations in a G Protein Identify Signaling Cross-Talk in T Cells
Hyoungjun Ham,Huie Jing,Ian T. Lamborn, Megan M. Kober,Alexey Koval,Yamina A. Berchiche,D. Eric Anderson,Kirk M. Druey,Judith N. Mandl,Bertrand Isidor,Carlos R. Ferreira,Alexandra F. Freeman,Sundar Ganesan, Meliha Karsak,Peter J. Mustillo,Juliana Teo,Zarazuela Zolkipli-Cunningham,Nicolas Chatron,Francois Lecoquierre,Andrew J. Oler,Jana Pachlopnik Schmid,Douglas B. Kuhns,Xuehua Xu,Fabian Hauck,Waleed Al-Herz, Matias Wagner,Paulien A. Terhal,Mari Muurinen,Vincent Barlogis,Phillip Cruz,Jeffrey Danielson,Helen Stewart,Petra Loid,Sebastian Rading, Boris Keren,Rolph Pfundt,Kol A. Zarember,Katharina Vill, Lorraine Potocki,Kenneth N. Olivier,Gaetan Lesca,Laurence Faivre,Melanie Wong, Anne Puel,Janet Chou,Maud Tusseau,Niki M. Moutsopoulos,Helen F. Matthews,Cas Simons,Ryan J. Taft,Ariane Soldatos,Etienne Masle-Farquhar,Stefania Pittaluga,Robert Brink,Danielle L. Fink,Heidi H. Kong,Juraj Kabat, Woo Sung Kim,Tatjana Bierhals, Kazuyuki Meguro,Amy P. Hsu,Jingwen Gu,Jennifer Stoddard,Benito Banos-Pinero, Maria Slack, Giampaolo Trivellin,Benoit Mazel,Maarja Soomann, Samuel Li, Val J. Watts,Constantine A. Stratakis, Maria F. Rodriguez-Quevedo,Ange-Line Bruel, Marita Lipsanen-Nyman,Paul Saultier, Rashmi Jain,Daphne Lehalle, Daniel Torres,Kathleen E. Sullivan,Sebastien Barbarot,Axel Neu,Yannis Duffourd,Morgan Similuk,Kirsty McWalter, Pierre Blanc,Stephane Bezieau,Tian Jin,Raif S. Geha,Jean-Laurent Casanova, Outi M. Makitie,Christian Kubisch,Patrick Edery,John Christodoulou,Ronald N. Germain,Christopher C. Goodnow,Thomas P. Sakmar,Daniel D. Billadeau,Sebastien Kury,Vladimir L. Katanaev, Yu Zhang,Michael J. Lenardo, Helen C. Su
SCIENCEno. 6715 (2024): 1314-+
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Prospective Reanalysis of Unsolved Prenatal Exome Sequencing for Structural Defects: Feasibility and Diagnostic Yield
Nicolas Bourgon,Aurore Garde, Frederic Tran Mau Them,Yannis Duffourd,Antonio Vitobello, Christophe Philippe,Laurence Faivre, Christel Thauvin-Robinet
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 110-111
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Genome-wide Association Analyses Identify New Brugada Syndrome Risk Loci and Highlight a New Mechanism of Sodium Channel Regulation in Disease Susceptibility
Julien Barc,Rafik Tadros,Charlotte Glinge,David Y. Chiang,Mariam Jouni,Floriane Simonet,Sean J. Jurgens,Manon Baudic,Michele Nicastro,Franck Potet,Joost A. Offerhaus,Roddy Walsh,Seung Hoan Choi,Arie O. Verkerk,Yuka Mizusawa,Soraya Anys,Damien Minois,Marine Arnaud,Josselin Duchateau,Yanushi D. Wijeyeratne,Alison Muir,Michael Papadakis,Silvia Castelletti,Margherita Torchio,Cristina Gil Ortuño,Javier Lacunza,Daniela F. Giachino,Natascia Cerrato,Raphaël P. Martins,Oscar Campuzano,Sonia Van Dooren,Aurélie Thollet,Florence Kyndt,Andrea Mazzanti,Nicolas Clémenty,Arnaud Bisson,Anniek Corveleyn,Birgit Stallmeyer,Sven Dittmann,Johan Saenen,Antoine Noël,Shohreh Honarbakhsh,Boris Rudic,Halim Marzak,Matthew K. Rowe,Claire Federspiel,Sophie Le Page,Leslie Placide,Antoine Milhem,Hector Barajas-Martinez,Britt-Maria Beckmann,Ingrid P. Krapels,Johannes Steinfurt,Bo Gregers Winkel,Reza Jabbari,Moore B. Shoemaker,Bas J. Boukens,Doris Škorić-Milosavljević,Hennie Bikker,Federico Manevy,Peter Lichtner,Marta Ribasés,Thomas Meitinger,Martina Müller-Nurasyid,Konstantin Strauch, Jan H. Veldink,Leonard H. van den Berg,Philip Van Damme, Daniele Cusi,Chiara Lanzani,Sidwell Rigade,Eric Charpentier,Estelle Baron,Stéphanie Bonnaud,Simon Lecointe, Audrey Donnart,Hervé Le Marec,Stéphanie Chatel, Matilde Karakachoff,Stéphane Bézieau,Barry London, Jacob Tfelt-Hansen,Dan Roden,Katja E. Odening,Marina Cerrone, Larry A. Chinitz,Paul G. Volders,Maarten P. van de Berg,Gabriel Laurent,Laurence Faivre,Charles Antzelevitch,Stefan Kääb,Alain Al Arnaout,Jean-Marc Dupuis,Jean-Luc Pasquie,Olivier Billon,Jason D. Roberts,Laurence Jesel,Martin Borggrefe,Pier D. Lambiase,Jacques Mansourati,Bart Loeys,Antoine Leenhardt,Pascale Guicheney,Philippe Maury, Eric Schulze-Bahr, Tomas Robyns,Jeroen Breckpot,Dominique Babuty,Silvia G. Priori,Carlo Napolitano, Pascal Defaye,Carlo de Asmundis, Pedro Brugada,Ramon Brugada,Elena Arbelo, Josep Brugada,Philippe Mabo,Nathalie Behar,Carla Giustetto,Maria Sabater Molina,Juan R. Gimeno,Can Hasdemir,Peter J. Schwartz, Lia Crotti,Pascal P. McKeown,Sanjay Sharma, Elijah R. Behr,Michel Haissaguerre,Frédéric Sacher,Caroline Rooryck,Hanno L. Tan,Carol A. Remme,Pieter G. Postema,Mario Delmar,Patrick T. Ellinor,Steven A. Lubitz,Jean-Baptiste Gourraud, Michael W. Tanck,Alfred L. George Jr.,Calum A. MacRae,Paul W. Burridge,Christian Dina, Vincent Probst, Arthur A. Wilde,Jean-Jacques Schott,Richard Redon,Connie R. Bezzina
Heart Rhythmno. 5 (2022): S23-S23
Cited39Views0WOSNATUREBibtex
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Author Statistics

#Papers: 25

#Citation: 131

H-Index: 5

G-Index: 7

Sociability: 7

Diversity: 1

Activity: 6

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