Literature DB >> 17360997

Structural variation in the human genome.

James R Lupski1.   

Abstract

Entities:  

Mesh：

Year:  2007        PMID： 17360997     DOI： 10.1056/NEJMcibr067658

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


× No keyword cloud information.
  52 in total

1.  Rare CNVs and tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population.

Authors:  Qian Zhao; Tao Li; XinZhi Zhao; Ke Huang; Ti Wang; ZhiQiang Li; Jue Ji; Zhen Zeng; Zhao Zhang; Kan Li; GuoYin Feng; David St Clair; Lin He; YongYong Shi
Journal:  Schizophr Bull       Date:  2012-02-08       Impact factor: 9.306

2.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

3.  Detection of clinically relevant exonic copy-number changes by array CGH.

Authors:  Philip M Boone; Carlos A Bacino; Chad A Shaw; Patricia A Eng; Patricia M Hixson; Amber N Pursley; Sung-Hae L Kang; Yaping Yang; Joanna Wiszniewska; Beata A Nowakowska; Daniela del Gaudio; Zhilian Xia; Gayle Simpson-Patel; LaDonna L Immken; James B Gibson; Anne C-H Tsai; Jennifer A Bowers; Tyler E Reimschisel; Christian P Schaaf; Lorraine Potocki; Fernando Scaglia; Tomasz Gambin; Maciej Sykulski; Magdalena Bartnik; Katarzyna Derwinska; Barbara Wisniowiecka-Kowalnik; Seema R Lalani; Frank J Probst; Weimin Bi; Arthur L Beaudet; Ankita Patel; James R Lupski; Sau Wai Cheung; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2010-11-02       Impact factor: 4.878

4.  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Authors:  Przemyslaw Szafranski; Christian P Schaaf; Richard E Person; Ian B Gibson; Zhilian Xia; Sangeetha Mahadevan; Joanna Wiszniewska; Carlos A Bacino; Seema Lalani; Lorraine Potocki; Sung-Hae Kang; Ankita Patel; Sau Wai Cheung; Frank J Probst; Brett H Graham; Marwan Shinawi; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

5.  A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.

Authors:  Aline L Petrin; Sandra Daack-Hirsch; Jamie L'Heureux; Jeffrey C Murray
Journal:  Cleft Palate Craniofac J       Date:  2010-05-04

6.  BreakDancer: Identification of Genomic Structural Variation from Paired-End Read Mapping.

Authors:  Xian Fan; Travis E Abbott; David Larson; Ken Chen
Journal:  Curr Protoc Bioinformatics       Date:  2014

7.  Structural genomic variation in ischemic stroke.

Authors:  Mar Matarin; Javier Simon-Sanchez; Hon-Chung Fung; Sonja Scholz; J Raphael Gibbs; Dena G Hernandez; Cynthia Crews; Angela Britton; Fabienne Wavrant De Vrieze; Thomas G Brott; Robert D Brown; Bradford B Worrall; Scott Silliman; L Douglas Case; John A Hardy; Stephen S Rich; James F Meschia; Andrew B Singleton
Journal:  Neurogenetics       Date:  2008-02-21       Impact factor: 2.660

8.  Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.

Authors:  Ivon Cuscó; Roser Corominas; Mònica Bayés; Raquel Flores; Núria Rivera-Brugués; Victoria Campuzano; Luis A Pérez-Jurado
Journal:  Genome Res       Date:  2008-02-21       Impact factor: 9.043

9.  Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis.

Authors:  Tie-Lin Yang; Xiang-Ding Chen; Yan Guo; Shu-Feng Lei; Jin-Tang Wang; Qi Zhou; Feng Pan; Yuan Chen; Zhi-Xin Zhang; Shan-Shan Dong; Xiang-Hong Xu; Han Yan; Xiaogang Liu; Chuan Qiu; Xue-Zhen Zhu; Teng Chen; Meng Li; Hong Zhang; Liang Zhang; Betty M Drees; James J Hamilton; Christopher J Papasian; Robert R Recker; Xiao-Ping Song; Jing Cheng; Hong-Wen Deng
Journal:  Am J Hum Genet       Date:  2008-11-06       Impact factor: 11.025

10.  Type 2 Diabetes Genetics: Beyond GWAS.

Authors:  Dharambir K Sanghera; Piers R Blackett
Journal:  J Diabetes Metab       Date:  2012-06-23
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.