Annick Toutain

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