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Anne‐Claude Tabet | doi.page

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Anne‐Claude Tabet

Centre National de la Recherche Scientifique(FR)Institut Pasteur(FR)Assistance Publique – Hôpitaux de Paris(FR)Hôpital Robert-Debré(FR)

Publications by Year

Research Areas

Genomic variations and chromosomal abnormalities, Congenital heart defects research, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Autism Spectrum Disorder Research

Most-Cited Works

→ Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases(2013)134 cited
→ Operative list of genes associated with autism and neurodevelopmental disorders based on database review(2021)130 cited
→ Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders(2019)82 cited
→ A framework to identify contributing genes in patients with Phelan-McDermid syndrome(2017)79 cited
→ First cryptic balanced reciprocal translocation mosaicism and familial transmission(2008)72 cited
→ Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder(2015)70 cited

→ Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations(2014)65 cited

→ Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features(2018)61 cited

→ Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?(2016)54 cited

→ Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype(2012)48 cited