Annick Toutain

Annick Toutain 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 Annick Toutain sits on this spectrum.

Annick Toutain 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 Annick Toutain sits on this spectrum.

Research.com Recognitions

• 2024 - Research.com Genetics in France Leader Award

Overview

Best Publications

• SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

  V Belin;V Cusin;G Viot;D Girlich

  467
  Citations

• Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism

  Anita Rauch;Christian T. Thiel;Detlev Schindler;Ursula Wick

  449
  Citations

• Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up

  Denis Duboc;Christophe Meune;Bertrand Pierre;Karim Wahbi

  377
  Citations

• Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation

  Mitsuhiro Kato;Soma Das;Kristin Petras;Kunio Kitamura

  346
  Citations

• Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

  Robert Lyle;Robert Lyle;Frédérique Béna;Frédérique Béna;Sarantis Gagos;Sarantis Gagos;Corinne Gehrig;Corinne Gehrig

  344
  Citations

• Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

  Lekbir Baala;Sophie Audollent;Jéléna Martinovic;Catherine Ozilou

  334
  Citations

• Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4

  Nadege Bondurand;Nadege Bondurand;Florence Dastot-Le Moal;Laure Stanchina;Laure Stanchina;Nathalie Collot

  320
  Citations

• Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

  Caroline Nava;Nadine Hanna;Caroline Michot;Sabrina Pereira

  295
  Citations

• Mutations in the pre-replication complex cause Meier-Gorlin syndrome

  Louise S Bicknell;Ernie M H F Bongers;Andrea Leitch;Stephen Brown

  267
  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

• Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

  David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

  240
  Citations

• Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

  Patrick Edery;Charles Marcaillou;Mourad Sahbatou;Audrey Labalme

  236
  Citations

• Congenital glutamine deficiency with glutamine synthetase mutations.

  Johannes Häberle;Boris Görg;Frank Rutsch;Eva Schmidt

  212
  Citations

• Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

  Fabienne Clot;David Grabli;David Grabli;Cécile Cazeneuve;Emmanuel Roze

  181
  Citations

• X‐linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): Clinical, magnetic resonance imaging, and neuropathological findings

  Dominique Bonneau;Annick Toutain;Annie Laquerrière;Stéphane Marret

  181
  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

• A Founder Mutation in the γ-Sarcoglycan Gene of Gypsies Possibly Predating Their Migration Out of India

  F. Piccolo;M. Jeanpierre;F. Leturcq;C. Dodé

  179
  Citations

• Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

  Karim Wahbi;Karim Wahbi;Rabah Ben Yaou;Estelle Gandjbakhch;Frédéric Anselme

  175
  Citations

• Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

  Valérie Pelletier;Marguerite Jambou;Nathalie Delphin;Elena Zinovieva

  170
  Citations

• Supporting Online Material for Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

  Patrick Edery;Charles Marcaillou;Mourad Sahbatou;Audrey Labalme

  0
  Citations