✦ LIBER ✦

Exome sequencing supports a de novo mutational paradigm for schizophrenia

✍ Scribed by Xu, Bin; Roos, J Louw; Dexheimer, Phillip; Boone, Braden; Plummer, Brooks; Levy, Shawn; Gogos, Joseph A; Karayiorgou, Maria

Book ID: 120029273
Publisher: Nature Publishing Group
Year: 2011
Tongue: English
Weight: 385 KB
Volume: 43
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng.902

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Exome Sequencing Reveals De Novo WDR45 M

Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA

✍ Tobias B. Haack; Penelope Hogarth; Michael C. Kruer; Allison Gregory; Thomas Wie 📂 Article 📅 2012 🏛 American Society of Human Genetics 🌐 English ⚖ 411 KB

Heterozygous de-novo mutations in ATP1A3

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

✍ Hendrik Rosewich; Holger Thiele; Andreas Ohlenbusch; Ulrike Maschke; Janine Altm 📂 Article 📅 2012 🏛 The Lancet 🌐 English ⚖ 156 KB

De novo mutations in schizophrenia impli

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

✍ McCarthy, S E; Gillis, J; Kramer, M; Lihm, J; Yoon, S; Berstein, Y; Mistry, M; P 📂 Article 📅 2014 🏛 Nature Publishing Group 🌐 English ⚖ 304 KB

Exome sequencing identifies a de novo SC

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

✍ Baasch, Anna-Lena; Hüning, Irina; Gilissen, Christian; Klepper, Joerg; Veltman, 📂 Article 📅 2014 🏛 Wiley (Blackwell Publishing) 🌐 English ⚖ 188 KB

Haemophilia A resulting from de novo ins

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man

✍ Kazazian, Haig H.; Wong, Corinne; Youssoufian, Hagop; Scott, Alan F.; Phillips, 📂 Article 📅 1988 🏛 Nature Publishing Group 🌐 English ⚖ 345 KB

A de novo germline mutation of APC for i

A de novo germline mutation of APC for inheritable colon cancer in a Chinese family using multigene next generation sequencing

✍ Zhang, Yan; Lu, Guanting; Hu, Qingtao; Wang, Xueyan; Li, Chaohua; Mao, Yuegan; C 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 653 KB