Sophie Rondeau - Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades

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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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Identification of Kinesin Family Member (KIF22) Homozygous Variants in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Lepdodactylic Type and Demonstration of Proteoglycan Biosynthesis Impairment

Johanne Dubail,Sophie Rondeau,Caroline Michot,Genevieve Baujat,Yline Capri,Julien Thevenon, Maelle Charpie,Zagorka Pejin,Gilles Phan,Celine Huber,Valerie Cormier-Daire

JOURNAL OF BONE AND MINERAL RESEARCHno. 3 (2024): 287-297

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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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Ciliopathy Due to POC1A Deficiency: Clinical and Metabolic Features, and Cellular Modeling

Kevin Perge,Emilie Capel,Carine Villanueva,Jeremie Gautheron, Safiatou Diallo,Martine Auclair,Sophie Rondeau,Romain Morichon,Frederic Brioude,Isabelle Jeru, Massimiliamo Rossi,Marc Nicolino,Corinne Vigouroux

EUROPEAN JOURNAL OF ENDOCRINOLOGYno. 2 (2024): 151-164

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Clinico-biological Refinement of BCL11B-related Disorder and Identification of an Episignature: A Series of 20 Unreported Individuals

Quentin Sabbagh,Sadegheh Haghshenas,Juliette Piard,Chloe Trouve,Jeanne Amiel,Tania Attie-Bitach,Tugce Balci,Mouna Barat-Houari,Alyce Belonis,Odile Boute,Diana S. Brightman,Ange-Line Bruel,Stefano Giuseppe Caraffi,Nicolas Chatron,Corinne Collet,William Dufour,Patrick Edery,Chin-To Fong,Carlo Fusco,Vincent Gatinois,Evan Gouy,Anne-Marie Guerrot,Solveig Heide, Aakash Joshi,Natalya Karp,Boris Keren,Marion Lesieur-Sebellin,Jonathan Levy,Michael A. Levy,Claire Lozano,Stanislas Lyonnet,Henri Margot,Pauline Marzin,Haley Mcconkey,Vincent Michaud,Gael Nicolas, Mevyn Nizard, Alix Paulet,Francesca Peluso,Vincent Pernin,Laurence Perrin,Christophe Philippe,Chitra Prasad,Madhavi Prasad,Raissa Relator,Marlene Rio,Sophie Rondeau,Valentin Ruault,Nathalie Ruiz-Pallares,Elodie Sanchez,Debbie Shears,Victoria Mok Siu,Arthur Sorlin,Matthew Tedder,Mylene Tharreau,Frederic Tran Mau-Them,Liselot van der Laan,Julien Van Gils,Alain Verloes,Sandra Whalen,Marjolaine Willems,Kevin Yauy,Roberta Zuntini,Jennifer Kerkhof,Bekim Sadikovic,David Genevieve

GENETICS IN MEDICINEno. 1 (2024)

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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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Audiological Phenotyping Evaluation in KBG Syndrome: Description of a Multicenter Review

Margaux Serey Gaut, Laetitia Rhamati,Anne-Marie Guerrot,Alice Goldenberg,Marlene Rio,Genevieve Baujat,Stanislas Lyonnet,Elisa Rubinato,Laurence Jonard,Sophie Rondeau, Marie-Line Jacquemont,Delphine Dupin-Deguine,Sebastien Moutton,Bertrand Isidor,Alban Ziegler, Valerie Cormier-Daire,Marie Vincent,Sandrine Marlin

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 116-117

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Expanding the Genetic and Clinical Spectrum of Tatton-Brown-Rahman Syndrome in a Series of 24 French Patients

Hortense Thomas,Tom Alix,Emeline Renard,Mathilde Renaud, Justine Wourms,Stephane Zuily,Bruno Leheup,David Genevieve,Natacha Dreumont,Emmanuelle Schmitt,Myriam Bronner,Marc Muller,Marion Divoux,Marion Wandzel,Jean-Marie Ravel, Mylene Dexheimer,Aurelie Becker,Virginie Roth,Marjolaine Willems,Christine Coubes,Gaelle Vieville,Francoise Devillard,Elise Schaefer,Sarah Baer,Amelie Piton,Benedicte Gerard,Marie Vincent,Mathilde Nizon,Benjamin Cogne,Lyse Ruaud,Nathalie Couque,Audrey Putoux,Patrick Edery,Gaetan Lesca,Nicolas Chatron,Marianne Till,Laurence Faivre,Frederic Tran-Mau-Them,Jean-Luc Alessandri,Marine Lebrun,Chloe Quelin,Sylvie Odent,Christele Dubourg,Veronique David,Marie Faoucher,Cyril Mignot,Boris Keren, Elise Pisan,Alexandra Afenjar,Sophie Julia,Eric Bieth,Guillaume Banneau,Alice Goldenberg,Thomas Husson,Dominique Campion,Francois Lecoquierre,Gael Nicolas,Camille Charbonnier,Anne De Saint Martin,Sophie Naudion, Manon Degoutin,Sophie Rondeau,Caroline Michot,Valerie Cormier-Daire,Abderrahim Oussalah,Carine Pourie,Laetitia Lambert,Celine Bonnet

JOURNAL OF MEDICAL GENETICSno. 9 (2024): 878-885

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Weill-Marchesani Syndrome: Natural History and Genotype-Phenotype Correlations from 18 News Cases and Review of Literature

Pauline Marzin,Sophie Rondeau,Jean-Luc Alessandri,Klaus Dieterich,Carine le Goff,Clementine Mahaut,Sandra Mercier,Caroline Michot,Oana Moldovan,Gianmaria Miolo,Massimiliano Rossi,Julien Van-Gils,Christine Francannet,Matthieu Robert, Jean-Philippe Jais,Celine Huber,Valerie Cormier-Daire

JOURNAL OF MEDICAL GENETICSno. 2 (2024): 109-116

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Homozygous Mutations in KIF22 Are Responsible for a Milder Form of Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Johanne Dubail,Celine Huber, Gilles Phan,Caroline Michot, Genevieve Baujat,Sophie Rondeau, Valerie Cormier-Daire

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 405-406

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Monoallelic Variation in DHX9, the Gene Encoding the DExH-box Helicase DHX9, Underlies Neurodevelopment Disorders and Charcot-Marie-Tooth Disease

Daniel G. Calame, Tianyu Guo,Chen Wang,Lillian Garrett,Angad Jolly,Moez Dawood,Alina Kurolap,Noa Zunz Henig,Jawid M. Fatih,Isabella Herman,Haowei Du,Tadahiro Mitani,Lore Becker,Birgit Rathkolb,Raffaele Gerlini,Claudia Seisenberger,Susan Marschall,Jill Hunter,Amanda Gerard,Alexis Heidlebaugh,Thomas Challman,Rebecca C. Spillmann,Shalini N. Jhangiani,Zeynep Coban-Akdemir,Seema Lalani,Lingxiao Liu,Anya Revah-Politi,Alejandro Iglesias,Edwin Guzman,Evan Baugh,Nathalie Boddaert,Sophie Rondeau, Clothide Ormieres,Giulia Barcia,Queenie K. G. Tan,Sophie Isabelle Thiffault,Tomi Pastinen,Kazim Sheikh,Suur Biliciler,Davide Mei,Federico Melani,Vandana Shashi,Yuval Yaron,Mary Steele,Emma Wakeling,Elsebet Ostergaard,Lusine Nazaryan-Petersen,Francisca Millan,Teresa Santiago-Sim,Julien Thevenon,Ange-Line Bruel,Christel Thauvin-Robinet,Denny Popp,Konrad Platzer,Pawel Gawlinski,Wojciech Wiszniewski,Dana Marafi,Davut Pehlivan,Jennifer E. Posey,Richard A. Gibbs,Valerie Gailus-Durner,Renzo Guerrini,Helmut Fuchs,Martin Hrabe de Angelis,Sabine M. Hoelter,Hoi-Hung Cheung,Shen Gu,James R. Lupski

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

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