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论文共 47 篇作者统计合作学者相似作者

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Heterozygous CELF4 Variants in the N-term Region Crucial for the RNA-binding Activity Lead to Neurodevelopmental Disorder and Obesity
Ange-Line Bruel, Anneke T Vulto-vanSilfhout,Frédéric Bilan,Gwenaël Le Guyader,Brigitte Gilbert-Dussardier, Xavier Le Guillou,Sophie Rondeau,Marlène Rio, Kristen N Lee, Adelyn Beil,Mohnish Suri, François Guerin, Valentin Ruault,Alice Goldenberg,François Lecoquierre, Nicole Bertsch, Rhonda Anderson, Xiao-Ru Yang, Micheil Inness, Emi Rikeros-Orozco,Maria Palomares-Bralo, Jennifer Cassady Hayek, Jennifer Cech, Ankita Jhuraney, Runjun D Kumar,Saadet Mercimek-Andrews,Anastasia Ambrose, Erin N Wakeling,Ingrid M Wentzensen,Erin Torti, Catherine Gooch,Laurence Faivre,Christophe Philippe,Yannis Duffourd,Antonio Vitobello,Christel Thauvin-Robinet
European journal of human genetics EJHG (2025)
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Heterozygous UBR5 Variants Result in a Neurodevelopmental Syndrome with Developmental Delay, Autism, and Intellectual Disability
Pascale Sabeh, Samantha A. Dumas,Claudia Maios, Hiba Daghar, Marek Korzeniowski,Justine Rousseau, Matthew Lines,Andrea Guerin,John J. Millichap, Megan Landsverk,Theresa Grebe,Kristin Lindstrom,Jonathan Strober, Tarik Ait Mouhoub,Christiane Zweier,Michelle Steinraths,Moritz Hebebrand,Bert Callewaert,Rami Abou Jamra, Monika Kautza-Lucht,Meret Wegler, Paul Kruszka,Candy Kumps, Ehud Banne, Marta Biderman Waberski,Anne Dieux, Sarah Raible,Ian Krantz,Livija Medne, Kieran Pechter, Laurent Villard, Renzo Guerrini,Claudia Bianchini, Carmen Barba, Davide Mei, Xavier Blanc, Christine Kallay,Emmanuelle Ranza, Xiao-Ru Yang,Emily O'Heir, Kirsten A. Donald,Serini Murugasen,Zandre Bruwer, Muge Calikoglu, Jennifer M. Mathews,Marion Lesieur-Sebellin, Genevieve Baujat,Nicolas Derive, Tyler Mark Pierson, Jill R. Murrell,Amelle Shillington,Clothilde Ormieres,Sophie Rondeau, Andre Reis, Alberto Fernandez-Jaen,Ping Yee Billie Au,David A. Sweetser,Lauren C. Briere,Nathalie Couque,Laurence Perrin, Jennifer Schymick,Paul Gueguen,Mathilde Lefebvre, Michael Van Andel, Jane Juusola, Stylianos E. Antonarakis, Ethud Banne, J. Alex Parker, Barrington G. Burnett, Philippe M. Campeau
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2025)
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Genetic Heterogeneity and Somatic Mosaicism in Cornelia De Lange Syndrome
Sophie Rondeau,Anne-Laure Tourre,Ghislaine Royer,Caroline Michot,Julie Steffann, Valerie Cormier-Daire
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 232-232
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Lessons from Two Series by Physicians and Caregivers' Self-Reported Data in DDX3X-related Disorders
Valentin Ruault,Pauline Burger, Johanna Gradels-Hauguel,Nathalie Ruiz,Rami Abou Jamra,Alexandra Afenjar,Yves Alembik,Jean-Luc Alessandri,Stephanie Arpin,Giulia Barcia,Sarka Bendova,Ange-Line Bruel,Perrine Charles,Nicolas Chatron,Maya Chopra,Solene Conrad,Valerie Cormier Daire,Auriane Cospain,Christine Coubes,Juliette Coursimault,Andree Delahaye-Duriez,Martine Doco,William Dufour,Benjamin Durand,Camille Engel,Laurence Faivre, Fanny Ferroul,Melanie Fradin, Helene Frenkiel,Carlo Fusco,Livia Garavelli,Aurore Garde,Benedicte Gerard,David Germanaud,Louise Goujon,Aurelie Gouronc,Emmanuelle Ginglinger,Alice Goldenberg,Miroslava Hancarova,Marketa Havlovicova,Delphine Heron,Bertrand Isidor,Nolwenn Jean Marcais,Boris Keren,Margarete Koch-Hogrebe,Paul Kuentz, Victoria Lamure,Anne-Sophie Lebre,Francois Lecoquierre,Natacha Lehman,Gaetan Lesca,Stanislas Lyonnet, Delphine Martin,Cyril Mignot,Teresa M. Neuhann,Gael Nicolas,Mathilde Nizon,Florence Petit,Christophe Philippe,Amelie Piton,Marzia Pollazzon,Darina Prchalova,Audrey Putoux,Marlene Rio,Sophie Rondeau,Massimiliano Rossi,Quentin Sabbagh,Pascale Saugier-Veber,Ariane Schmetz,Julie Steffann,Christel Thauvin-Robinet,Annick Toutain,Frederic Tran Mau Them,Gabriele Trimarchi,Marie Vincent,Marketa Vlckova,Dagmar Wieczorek,Marjolaine Willems,Kevin Yauy,Michaela Zelinova,Alban Ziegler,Boris Chaumette,Bekim Sadikovic,Jean-Louis Mandel,David Genevieve
Molecular Genetics & Genomic Medicine（2024）
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Two New Cases with HMGB1 Loss-of-function Variants
Marlene Rio,Thomas Courtin,Sophie Rondeau, Marion Lesieursebellin,Tania Attie-Bitach,Valerie Cormier-Daire
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 184-184
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作者统计

#Papers: 47

#Citation: 187

H-Index: 8

G-Index: 13

Sociability: 7

Diversity: 2

Activity: 24

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