Sylvie Odent

Sylvie Odent publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Sylvie Odent sits on this spectrum.

Sylvie Odent D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Sylvie Odent sits on this spectrum.

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