Accueil › Annuaire des chercheurs › Annick Toutain

Annick Toutain

Affiliation : Université de Tours · Inserm · Imaging, Brain, and Neuropsychiatry · Centre Hospitalier Universitaire de Tours · Hôpital Bretonneau

• 10Publications (affiliation française)
• 383Publications au total
• 14871Citations
• 69Indice h

ORCIDOpenAlex

Domaines de recherche

• Genomics and Rare Diseases
• Genetics and Neurodevelopmental Disorders
• Genomic variations and chromosomal abnormalities
• Connective tissue disorders research
• Congenital limb and hand anomalies

Publications (10)

• Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
  2024 · European Journal of Human Genetics · cité 8 fois
• Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
  2024 · European Journal of Human Genetics · cité 3 fois
• The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
  2022 · Brain · cité 47 fois
• Pregnancy outcome following in utero exposure to azathioprine: A French comparative observational study
  2017 · Therapies · cité 39 fois
• A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
  2015 · Journal of Medical Genetics · cité 135 fois
• Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes
  2014 · Clinical Genetics · cité 26 fois
• Phenotypic Spectrum of Simpson– G olabi– B ehmel Syndrome in a Series of 42 Cases With a Mutation in GPC 3 and Review of the Literature
  2013 · American Journal of Medical Genetics Part C Seminars in Medical Genetics · cité 100 fois
• TCTN3 Mutations Cause Mohr-Majewski Syndrome
  2012 · The American Journal of Human Genetics · cité 134 fois
• REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
  2011 · Human Mutation · cité 94 fois
• Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
  2009 · Brain · cité 147 fois

Revues de publication

• European Journal of Human Genetics × 2
• Brain × 2
• Therapies × 1
• Journal of Medical Genetics × 1
• Clinical Genetics × 1
• American Journal of Medical Genetics Part C Seminars in Medical Genetics × 1

Publications par année

• 20242
• 20221
• 20171
• 20151
• 20141
• 20131
• 20121
• 20111
• 20091

Collaborations

Établissements partenaires : Assistance Publique – Hôpitaux de Paris · Centre Hospitalier Universitaire d'Angers · Centre National de la Recherche Scientifique · Pitié-Salpêtrière Hospital · Hôpital Necker-Enfants Malades

Pays des co-auteurs : Singapour · Maroc · Tunisie · Liban

Co-auteurs

• Sylvie Odent
• Alice Goldenberg
• Valérie Cormier‐Daire
• Christine Francannet
• Cécile Cazeneuve
• Clarisse Battault
• Geneviève Baujat
• Marie‐Laure Vuillaume
• Didier Lacombe
• Dominique Bonneau
• Radka Stoeva
• Estelle Fédirko

Données bibliographiques issues d’OpenAlex (base ouverte).