Christel Thauvin-Robinet

Overview

Best Publications

• SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

  Stéphanie Millecamps;François Salachas;Cécile Cazeneuve;Paul H. Gordon

  344
  Citations

• Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

  Claire Redin;Bénédicte Gérard;Julia Lauer;Yvan Herenger

  281
  Citations

• Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification

  Gaël Nicolas;Cyril Pottier;Camille Charbonnier;Lucie Guyant-Maréchal

  262
  Citations

• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

  Audrey Putoux;Sophie Thomas;Karlien L.M. Coene;Erica E. Davis

  260
  Citations

• Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.

  J. Thevenon;Y. Duffourd;A. Masurel-Paulet;M. Lefebvre

  257
  Citations

• A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

  Philippe Latour;Christel Thauvin-Robinet;Chantal Baudelet-Méry;Pierre Soichot

  251
  Citations

• Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  225
  Citations

• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

  Karlien L.M. Coene;Ronald Roepman;Dan Doherty;Bushra Afroze

  221
  Citations

• Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

  Ashley L. Lennox;Mariah L. Hoye;Ruiji Jiang;Bethany L. Johnson-Kerner

  206
  Citations

• Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

  Bertrand Isidor;Pierre Lindenbaum;Pierre Lindenbaum;Olivier Pichon;Stéphane Bézieau

  202
  Citations

• Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

  Sabina Benko;Christopher T Gordon;Delphine Mallet;Rajini Sreenivasan

  202
  Citations

• PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

  Christel Thauvin-Robinet;Martine Auclair;Laurence Duplomb;Martine Caron-Debarle

  194
  Citations

• Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

  C Thauvin-Robinet;M Cossée;V Cormier-Daire;L Van Maldergem

  181
  Citations

• Multifocal Ectopic Purkinje-Related Premature Contractions A New SCN5A-Related Cardiac Channelopathy

  Gabriel Laurent;Samuel Saal;Mohamed Yassine Amarouch;Delphine M. Béziau

  169
  Citations

• Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.

  Sophie Nambot;Julien Thevenon;Paul Kuentz;Yannis Duffourd

  168
  Citations

• TCTN3 Mutations Cause Mohr-Majewski Syndrome

  Sophie Thomas;Sophie Thomas;Marine Legendre;Sophie Saunier;Sophie Saunier;Bettina Bessières

  156
  Citations

• Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

  Raphael Carapito;Martina Konantz;Catherine Paillard;Zhichao Miao

  156
  Citations

• The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

  Christel Thauvin-Robinet;Jaclyn S Lee;Estelle Lopez;Vicente Herranz-Pérez

  152
  Citations

• X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

  Chiara Olcese;Chiara Olcese;Mitali P. Patel;Amelia Shoemark;Santeri Kiviluoto

  149
  Citations

• Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

  Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  22
  Citations