Sylvie Odent

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award
• 2024 - Research.com Genetics and Molecular Biology in France Leader Award

Overview

Best Publications

• Mutation Spectrum and Genotype-Phenotype Analyses in Cowden Disease and Bannayan-Zonana Syndrome, Two Hamartoma Syndromes With Germline PTEN Mutation

  Debbie J. Marsh;Valérie Coulon;Kathryn L. Lunetta;Philippe Rocca-Serra

  796
  Citations

• Clinical features and prognostic factors of listeriosis: the MONALISA national prospective cohort study.

  Caroline Charlier;Élodie Perrodeau;Alexandre Leclercq;Alexandre Leclercq;Benoît Cazenave

  583
  Citations

• Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation.

  Audrey Guilmatre;Christèle Dubourg;Anne-Laure Mosca;Solenn Legallic

  518
  Citations

• Mutations in the [beta]-tubulin gene TUBB2B result in asymmetrical polymicrogyria

  Xavier Hubert Jaglin;Karine Poirier;Karine Poirier;Yoann Saillour;Yoann Saillour;Emmanuelle Buhler

  409
  Citations

• Holoprosencephaly. Orphanet J Rare Dis 2:8

  Dubourg C;Bendavid C;Pasquier L;Henry C

  374
  Citations

• Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy

  Katarina Pelin;Pirta Hilpelä;Kati Donner;Caroline Sewry

  358
  Citations

• BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

  Corinne Stoetzel;Virginie Laurier;Erica E. Davis;Jean Muller

  340
  Citations

• Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

  David Attias;Chantal Stheneur;Carine Roy;Gwenaëlle Collod-Béroud

  297
  Citations

• Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

  Karine Poirier;Karine Poirier;David A. Keays;Fiona Francis;Fiona Francis;Yoann Saillour;Yoann Saillour

  264
  Citations

• Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

  V. Laugel;C. Dalloz;M. Durand;F. Sauvanaud

  245
  Citations

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  229
  Citations

• A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

  Josseline Kaplan;Sylvie Gerber;Dominique Larget-Piet;Jean-Michel Rozet

  223
  Citations

• Marfan Sartan: a randomized, double-blind, placebo-controlled trial.

  Olivier Milleron;Florence Arnoult;Jacques Ropers;Philippe Aegerter

  221
  Citations

• Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

  Lúcia Y. Brown;Sylvie Odent;Véronique David;Martine Blayau

  212
  Citations

• OPA1 R445H mutation in optic atrophy associated with sensorineural deafness

  Patrizia Amati-Bonneau;Agnès Guichet;Aurélien Olichon;Arnaud Chevrollier

  202
  Citations

• PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

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

  194
  Citations

• Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations.

  Christèle Dubourg;Leïla Lazaro;Laurent Pasquier;Claude Bendavid

  192
  Citations

• The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

  M Chol;S Lebon;P Bénit;D Chretien

  189
  Citations

• International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the MAC (Montalcino Aortic Consortium)

  Guillaume Jondeau;Jacques Ropers;Ellen S Regalado;Alan Braverman

  184
  Citations

• Expression of the Sonic hedgehog (SHH) Gene during Early Human Development and Phenotypic Expression of New Mutations Causing Holoprosencephaly

  S. Odent;T. Attié-Bitach;M. Blayau;M. Mathieu

  183
  Citations