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Annick Toutain
Affiliation : Université de Tours · Inserm · Imaging, Brain, and Neuropsychiatry · Centre Hospitalier Universitaire de Tours · Hôpital Bretonneau
- 10Publications (affiliation in France)
- 383Total publications
- 14871Citations
- 69h-index
Research profile
Annick Toutain has 10 indexed publications (2009–2024). Their work appears mainly in “European Journal of Human Genetics”, “Brain” and “Therapies”. Their most cited article, “Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia” (2009), has been cited 147 times. 3 of these publications date from the last three years of activity. Their work is co-authored with at least 12 researchers, including institutions in Singapore, Morocco, Tunisia, Lebanon.
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Create my free profile Add my publicationsResearch areas
- 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
- Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
- The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
- Pregnancy outcome following in utero exposure to azathioprine: A French comparative observational study
- A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
- Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes
- 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
- TCTN3 Mutations Cause Mohr-Majewski Syndrome
- REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction
- Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
Publication venues
- 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 per year
- 20242
- 20221
- 20171
- 20151
- 20141
- 20131
- 20121
- 20111
- 20091
Collaborations
Partner institutions : Assistance Publique – Hôpitaux de Paris · Centre Hospitalier Universitaire d'Angers · Centre National de la Recherche Scientifique · Pitié-Salpêtrière Hospital · Hôpital Necker-Enfants Malades
Co-authors’ countries : Singapore · Morocco · Tunisia · Lebanon
Co-authors
- 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
Bibliographic data from OpenAlex (open database).
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