Anne‐Claude Tabet - Concepedia

Author

Anne‐Claude Tabet

Also Known As

A. C. Tabet, A.-C. Tabet, A.‐C. Tabet, Anne-Claude Tabet, Anne-Claude Tabet (330237), Anne-claude Tabet, Anne‐Claude Tabet, Monika Weisz-Hubshman, Richard Boerwinkle, Tabet, Anne-Claude

Publications

1.7K

Citations

H-Index

Concepts

All Affiliations

Hôpital Robert-Debré Assistance Publique – Hôpitaux de Paris Inserm Université Paris Cité Sorbonne Université

About

Anne‐Claude Tabet is an author at Hôpital Robert-Debré specializing in genetics, medicine, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	11	11	456
2	Health Sciences	2	2	79
3	Public Health	1	1	32
4	Social Sciences	1	1	23
5	Biology	1	1	18

Anne‐Claude Tabet

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases Essam Al Ageeli, Séverine Drunat, Catherine Delanöe, European Journal of Medical Genetics GeneticsPathologyNew CasesGenetic StudyMedicine	2013	134
A framework to identify contributing genes in patients with Phelan-McDermid syndrome Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy, npj Genomic Medicine	2017	79
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron, Journal of Medical Genetics	2019	79
First cryptic balanced reciprocal translocation mosaicism and familial transmission Céline Dupont, Andrée Delahaye‐Duriez, Lydie Bürglen, American Journal of Medical Genetics Part A	2008	72
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder Anne‐Claude Tabet, Alain Verloès, Marion Pilorge, Molecular Autism	2015	70
Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, Prenatal Diagnosis	2014	65
Further delineation of the <i>MECP2</i> duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features Marguerite Miguet, Laurence Faivre, Jeanne Amiel, Journal of Medical Genetics	2018	61
Xq28 duplication including <i><scp>MECP2</scp></i> in six unreported affected females: what can we learn for diagnosis and genetic counselling? Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Clinical Genetics	2016	54
Autistic Disorder in Patients with Williams-Beuren Syndrome: A Reconsideration of the Williams-Beuren Syndrome Phenotype Sylvie Tordjman, George M. Anderson, Michel Botbol, PLoS ONE	2012	48
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting <i>UTRN</i> in a patient with arthrogryposis Anne‐Claude Tabet, Azzedine Aboura, Marion Gérard, American Journal of Medical Genetics Part A	2010	46

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