✦ LIBER ✦

Mutations of ANK3 identified by exome sequencing are associated with Autism susceptibility

✍ Scribed by Cheng Bi; Jinyu Wu; Tao Jiang; Qi Liu; Wanshi Cai; Ping Yu; Tao Cai; Mei Zhao; Yong-hui Jiang; Zhong Sheng Sun

Book ID: 115556424
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 230 KB
Volume: 33
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.22174

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo mutations revealed by whole-exom

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

✍ Sanders, Stephan J.; Murtha, Michael T.; Gupta, Abha R.; Murdoch, John D.; Raube 📂 Article 📅 2012 🏛 Nature Publishing Group 🌐 English ⚖ 780 KB

DDOST Mutations Identified by Whole-Exom

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

✍ Melanie A. Jones; Bobby G. Ng; Shruti Bhide; Ephrem Chin; Devin Rhodenizer; Ping 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 802 KB

Novel compound heterozygous mutations of

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination

✍ Shimojima, Keiko; Shimada, Shino; Tamasaki, Akiko; Akaboshi, Shinjiro; Komoike, 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 681 KB

Exome sequencing identifies de novo gain

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation

✍ Lee, H.; Lin, M.-c. A.; Kornblum, H. I.; Papazian, D. M.; Nelson, S. F. 📂 Article 📅 2014 🏛 Oxford University Press 🌐 English ⚖ 447 KB

C.O.6 Complete genetic analysis by whole

C.O.6 Complete genetic analysis by whole exome sequencing of a cohort with centronuclear myopathy identifies titin gene mutations

✍ Agrawal, P.B.; Schmitz, K.; DeChene, E.T.; Ceyhan, Ö.; Mercier, M.; Viola, M.; M 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 49 KB

Protective variant for rate of hippocamp

Protective variant for rate of hippocampal volume loss identified by whole exome sequencing in APOE-ε3ε3 males with MCI

✍ Nho, Kwangsik; Corneveaux, Jason; Kim, Sungeun; Lin, Hai; Risacher, Shannon; She 📂 Article 📅 2013 🏛 Elsevier Science 🌐 English ⚖ 249 KB