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Anne Faudet | Researchclopedia

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Anne Faudet

Sorbonne Université

27

Works

1,169

Citations

14

h-index

15

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders

Affiliations

Sorbonne Université2008–2026

Hôpital Armand-Trousseau2021–2022

Assistance Publique – Hôpitaux de Paris2008–2026

Pitié-Salpêtrière Hospital2008–2026

Centre d'Épidémiologie sur les Causes Médicales de Décès2017–2017

Top Works

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

Fetal and Pediatric Neurological Disorders

Prenatal Screening and Diagnostics

Long-term outcome of presymptomatic testing in Huntington disease

Marcela Gargiulo,Séverine Lejeune,et al.

2008110 citations

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

Caroline Nava,Foudil Lamari,et al.

2012109 citations

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P.L. Marsh,Delphine Héron,et al.

201796 citations

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders

Caroline Nava,Boris Keren,et al.

201369 citations

Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

Solveig Heide,Myrtille Spentchian,et al.

202052 citations

Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis

Mariana Ramos-Brossier,Caterina Montani,et al.

201440 citations

<i>ARID1B</i>mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability

Cyril Mignot,Marie-Laure Moutard,et al.

201636 citations

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Solveig Heide,Boris Keren,et al.

201736 citations