Christel Thauvin-Robinet

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职业迁徙

个人简介

Expertises :
Clinique:Génétique Médicale
Maladies rares

研究兴趣

论文共 38 篇作者统计合作学者相似作者

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Correspondence on “the ClinGen Brain Malformation Variant Curation Expert Panel: Rules for Somatic Variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai Et Al

Edgar Horta,Eric Dahlen,Camille Engel,Juliette Piard,Christel Thauvin-Robinet,Laurence Faivre,Pierre Vabres,Paul Kuentz

Genetics in Medicinepp.101214, (2024)

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Des Organoïdes Cérébraux Pour La Compréhension Et La Thérapie Des Maladies Génétiques Rares Avec Troubles Neurodéveloppementaux

Fatima El It,Laurence Faivre,Christel Thauvin-Robinet,Antonio Vitobello,Laurence Duplomb

médecine/sciencesno. 8-9 (2024): 643-652

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Expanding MNS1 Heterotaxy Phenotype

Julien Maraval, Andree Delahaye-Duriez,Ange-Line Bruel, Lea Gaudillat,Christel Thauvin-Robinet,Caroline Racine,Veronique Satre,Charles Coutton, Boris Keren,Laurence Faivre

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 226-226

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Prenatal Exome Sequencing, a Powerful Tool for Improving the Description of Prenatal Features Associated with Genetic Disorders

PRENATAL DIAGNOSIS (2024)

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DISSEQ - Double-blind Exome and Large Gene Panel Sequencing Analyses in the First-Line Diagnosis of 330 Patients with Intellectual Disability (ID): ES Superiority for the Identification of CNV, Variants in New Disease-Causing Genes, and New Candidate Genes, As Well As the Advantage of Possible Prospective Reanalysis

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 454-455

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[The Contribution of Cerebral Organoids to the Understanding and Treatment of Rare Genetic Diseases with Neurodevelopmental Disorders]

Fatima El It,Laurence Faivre,Christel Thauvin-Robinet,Antonio Vitobello,Laurence Duplomb

M S-MEDECINE SCIENCES（2024）

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Genomic Newborn Screening in France: from a Social Acceptability Study to a Pilot Project

Camille Level, Frederic Huet, Dominique Salvi, Christine Binquet, Emmanuel Simon,Alexandra Benachi,Nicolas Bourgon,Yves Ville, Sylvie Odent,Laurent Pasquier,Stephane Bezieau,Dominique Bonneau,Frederic Tran Mau-Them,Yannis Duffourd,Agnes Maurer,Christel Thauvin-Robinet,Christine Peyron,Laurence Faivre

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 341-342

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Marlene Malbos,Gabriella Vera,Harsh Sheth,Rhonda E. Schnur,Aurelien Juven,Anne-Claire Brehin,Jayesh Sheth, Ajit Gandhi, Faye L. Shapiro,Ange-Line Bruel,Florent Marguet,Amber Begtrup,Kristin G. Monaghan,Hana Safraou, Marie Brasseur-Daudruy,Frederic Tran Mau-Them,Yannis Duffourd,Laurence Faivre,Christel Thauvin-Robinet,Paul J. Benke,Christophe Philippe

CLINICAL GENETICS (2024)

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Correspondence on “The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2” by Lai et al

Edgar Horta,Eric Dahlen,Camille Engel,Juliette Piard,Christel Thauvin-Robinet,Laurence Faivre,Pierre Vabres,Paul Kuentz

Genetics in Medicine（2024）

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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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论文共 38 篇作者统计合作学者相似作者