A framework to identify contributing genes in patients with Phelan-McDermid syndrome-Reference-Cited by-同舟云学术

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Published:2017-10-23 Issue:1 Volume:2 Page:
ISSN:2056-7944
Container-title:npj Genomic Medicine
language:en
Short-container-title:npj Genom. Med.

Author:

Tabet Anne-Claude^ORCID,Rolland Thomas,Ducloy Marie,Lévy Jonathan,Buratti Julien,Mathieu Alexandre,Haye Damien,Perrin Laurence,Dupont Céline^ORCID,Passemard Sandrine,Capri Yline,Verloes Alain,Drunat Séverine,Keren Boris,Mignot Cyril,Marey Isabelle,Jacquette Aurélia,Whalen Sandra,Pipiras Eva,Benzacken Brigitte,Chantot-Bastaraud Sandra,Afenjar Alexandra,Héron Delphine,Le Caignec Cédric,Beneteau Claire,Pichon Olivier,Isidor Bertrand,David Albert,El Khattabi Laila,Kemeny Stephan,Gouas Laetitia,Vago Philippe,Mosca-Boidron Anne-Laure,Faivre Laurence,Missirian Chantal,Philip Nicole,Sanlaville Damien,Edery Patrick,Satre Véronique,Coutton Charles,Devillard Françoise,Dieterich Klaus,Vuillaume Marie-Laure,Rooryck Caroline,Lacombe Didier,Pinson Lucile,Gatinois Vincent,Puechberty Jacques,Chiesa Jean,Lespinasse James,Dubourg Christèle,Quelin Chloé,Fradin Mélanie,Journel Hubert,Toutain Annick,Martin Dominique,Benmansour Abdelamdjid,Leblond Claire S.,Toro Roberto,Amsellem Frédérique,Delorme Richard,Bourgeron Thomas

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://www.nature.com/articles/s41525-017-0035-2.pdf

Reference53 articles.

1. Phelan, K. & McDermid, H. E. The 22q13.3 Deletion syndrome (Phelan-McDermid syndrome). Mol. Syndromol. 2, 186–201 (2012).

2. Coe, B. P. et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat. Genet. 46, 1063–1071 (2014).

3. Cooper, G. M. et al. A copy number variation morbidity map of developmental delay. Nat. Genet. 43, 838–46 (2011).

4. Bonaglia, M. C. et al. Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome. PLoS Genet. 7, e1002173 (2011).

5. Guilmatre, A., Huguet, G., Delorme, R. & Bourgeron, T. The emerging role of SHANK genes in neuropsychiatric disorders. Dev. Neurobiol. 74, 113–122 (2014).

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