Laurence Faivre - Centre Hospitalier Universitaire Dijon Bourgogne

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论文共 11 篇作者统计合作学者相似作者

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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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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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A Syndromic Neurodevelopmental Disorder Caused by Rare Variants in PPFIA3 (vol 111, Pg 96, 2024)

Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham, Michael Zech, Matias Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Claudia Perne,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. McDonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean -Baptiste Le Pichon, Tomi Pastinen,Dihong Zhou,Kendra Engleman,Caroline Racine,Laurence Faivre,Sebastien Moutton,Anne -Sophie Denomme-Pichon,Hyun Yong Koh, Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh, Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Benito Banos-Pinero,Alistair T. Pagnamenta,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1239-1239

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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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Clinical genetics（2023）

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (vol 106, Pg 356, 2020)

Erfan Aref-Eshghi,Jennifer Kerkhof,Victor P. Pedro,Mouna Barat-Houari,Nathalie Ruiz-Pallares,Jean-Christophe Andrau,Didier Lacombe,Julien Van-Gils,Patricia Fergelot,Christele Dubourg, Valerie Cormier-Daire,Sophie Rondeau,Francois Lecoquierre,Pascale Saugier-Veber, Gael Nicolas,Gaetan Lesca,Nicolas Chatron,Damien Sanlaville,Antonio Vitobello,Laurence Faivre,Christel Thauvin-Robinet,Frederic Laumonnier,Martine Raynaud,Marielle Alders,Marcel Mannens, Peter Henneman, Raoul C. Hennekam,Guillaume Velasco,Claire Francastel,Damien Ulveling,Andrea Ciolfi,Simone Pizzi,Marco Tartaglia,Solveig Heide,Delphine Heron, Cyril Mignot,Boris Keren,Sandra Whalen,Alexandra Afenjar,Thierry Bienvenu, Philippe M. Campeau,Justine Rousseau,Michael A. Levy,Lauren Brick,Mariya Kozenko,Tugce B. Balci,Victoria Mok Siu,Alan Stuart,Mike Kadour,Jennifer Masters,Kyoko Takano,Tjitske Kleefstra, Nicole de Leeuw,Michael Field,Marie Shaw,Jozef Gecz,Peter J. Ainsworth,Hanxin Lin,David I. Rodenhiser, Michael J. Friez,Matt Tedder,Jennifer A. Lee,Barbara R. DuPont,Roger E. Stevenson,Steven A. Skinner,Charles E. Schwartz,David Genevieve, Bekim Sadikovic

AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2021): 1161-1163

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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder (vol 104, Pg 319, 2019)

Raphael Carapito,Ekaterina L. Ivanova,Aurore Morlon,Linyan Meng,Anne Molitor,Eva Erdmann,Bruno Kieffer,Angelique Pichot,Lydie Naegely,Aline Kolmer,NicodeMe Paul,Antoine Hanauer,Frederic Tran Mau-Them,Nolwenn Jean-Marcais,Susan M. Hiatt,Gregory M. Cooper,Tatiana Tvrdik,Alison M. Muir,Clemantine Dimartino,Maya Chopra,Jeanne Amiel,Christopher T. Gordon, Fabien Dutreux,Aurore Garde,Christel Thauvin-Robinet,Xia Wang,Magalie S. Leduc,Meredith Phillips,Heather P. Crawford,Mary K. Kukolich,David Hunt,Victoria Harrison,Mira Kharbanda, Robert Smigiel,Nina Gold,Christina Y. Hung,David H. Viskochil,Sarah L. Dugan, Pinar Bayrak-Toydemir,Geraldine Joly-Helas,Anne-Marie Guerrot,Caroline Schluth-Bolard, Marlene Rio,Ingrid M. Wentzensen,Kirsty McWalter,Rhonda E. Schnur,Andrea M. Lewis, Seema R. Lalani, Noel Mensah-Bonsu,Jocelyn Ceraline, Zijie Sun, Rafal Ploski,Carlos A. Bacino,Heather C. Mefford,Laurence Faivre,Olaf Bodamer, Jamel Chelly,Bertrand Isidor,Seiamak Bahram

AMERICAN JOURNAL OF HUMAN GENETICS（2020）

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Author Correction: A Framework to Identify Contributing Genes in Patients with Phelan-McDermid Syndrome

Anne‐Claude Tabet,Thomas Rolland,Marie Ducloy,Jonathan Lévy,Julien Buratti,Alexandre Mathieu,Damien Haye,Laurence Perrin,Céline Dupont,Sandrine Passemard,Yline Capri,Alain Verloès,Séverine Drunat,Boris Keren,Cyril Mignot,Isabelle Marey,Aurélia Jacquette,Sandra Whalen,Eva Pipiras,Brigitte Benzacken,Sandra Chantot‐Bastaraud,Alexandra Afenjar,Delphine Héron, Cédric Le Caignec,Claire Bénéteau,Olivier Pichon,Bertrand Isidor,Albert David,Laïla El Khattabi,Stéphan Kemeny,Laëtitia Gouas,Philippe Vago,Anne‐Laure Mosca‐Boidron,Laurence Faivre,Chantal Missirian,Nicole Philip,Damien Sanlaville,Patrick Edery,Véronique Satre,Charles Coutton,Françoise Devillard,Klaus Dieterich,Marie‐Laure Vuillaume,Caroline Rooryck,Didier Lacombe,Lucile Pinson,Vincent Gatinois,Jacques Puechberty,Jean Chiésa,James Lespinasse,Christèle Dubourg,Chloé Quēlin,Mélanie Fradin,Hubert Journel,Annick Toutain,Dominique Martin, Abdelamdjid Benmansour,Claire S. Leblond, Roberto Toro,Fréderique Amsellem,Richard Delorme,Thomas Bourgeron

npj genomic medicineno. 1 (2019)

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Rare Variants in the Genetic Background Modulate the Expressivity of Neurodevelopmental Disorders

Lucilla Pizzo,Matthew Jensen,Andrew Polyak,Jill A. Rosenfeld,Katrin Mannik,Arjun Krishnan,Elizabeth McCready,Olivier Pichon,Cedric Le Caignec,Anke Van Dijck,Kate Pope,Els Voorhoeve,Jieun Yoon,Paweł Stankiewicz,Sau Wai Cheung,Damian Pazuchanics,Emily Huber,Vijay Kumar,Rachel Kember,Francesca Mari,Aurora Curró,Lucia Castiglia,Ornella Galesi,Emanuela Avola,Teresa Mattina,Marco Fichera,Luana Mandarà,Marie Vincent,Mathilde Nizon,Sandra Mercier,Claire Bénéteau,Sophie Blesson,Dominique Martin-Coignard,Anne-Laure Mosca-Boidron,Jean-Hubert Caberg,Maja Bucan,Susan Zeesman,Małgorzata J.M. Nowaczyk,Mathilde Lefebvre,Laurence Faivre,Patrick Callier,Cindy Skinner,Boris Keren,Charles Perrine,Paolo Prontera,Nathalie Marle,Alessandra Renieri,Alexandre Reymond,R Frank Kooy,Bertrand Isidor,Charles Schwartz,Corrado Romano,Erik Sistermans,David J. Amor,Joris Andrieux,Santhosh Girirajan

Genetics in Medicine（2018）

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Genetic Spectrum of Hypertrophic Cardiomyopathy Revisited. Whole Exome Sequencing Reveals Extreme Genetic Heterogeneity, New Gene Mutations in a Multicenter Series of 200 Patients

K. N. Nguyen,S. R. Roche,C. L. Lavoute,P. R. Reant, E. D. Donal, J. H. Haentjens,E. C. Consolino,S. O. Odent,J. C. E. Eicher,L. F. Faivre,C. R. T. Rooryck-Thambo,P. C. Charron,A. C. C. Casalta,N. M. Michel,G. Habib

EUROPEAN HEART JOURNAL（2018）

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