Literature DB >> 16941003

Genome structural variation and sporadic disease traits.

James R Lupski.   

Abstract

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Year:  2006        PMID： 16941003     DOI： 10.1038/ng0906-974

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  31 in total

1.  Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.

Authors:  Bixia Xiang; Hongbo Zhu; Yiping Shen; David T Miller; Kangmo Lu; Xiaofeng Hu; Hans C Andersson; Tarachandra M Narumanchi; Yueying Wang; Jose E Martinez; Bai-Lin Wu; Peining Li; Marilyn M Li; Tian-Jian Chen; Yao-Shan Fan
Journal:  J Mol Diagn       Date:  2010-01-21       Impact factor: 5.568

2.  Genome-wide association study of copy number variations (CNVs) with opioid dependence.

Authors:  Dawei Li; Hongyu Zhao; Henry R Kranzler; Ming D Li; Kevin P Jensen; Tetyana Zayats; Lindsay A Farrer; Joel Gelernter
Journal:  Neuropsychopharmacology       Date:  2014-09-27       Impact factor: 7.853

3.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

4.  Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.

Authors:  David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P Ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker
Journal:  Eur J Hum Genet       Date:  2012-02-01       Impact factor: 4.246

5.  Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair.

Authors:  Marijke Bauters; Hilde Van Esch; Michael J Friez; Odile Boespflug-Tanguy; Martin Zenker; Angela M Vianna-Morgante; Carla Rosenberg; Jaakko Ignatius; Martine Raynaud; Karen Hollanders; Karen Govaerts; Kris Vandenreijt; Florence Niel; Pierre Blanc; Roger E Stevenson; Jean-Pierre Fryns; Peter Marynen; Charles E Schwartz; Guy Froyen
Journal:  Genome Res       Date:  2008-04-02       Impact factor: 9.043

Review 6.  CNV and nervous system diseases--what's new?

Authors:  W Gu; J R Lupski
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

7.  Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

Authors:  Xin-Yan Lu; Mai T Phung; Chad A Shaw; Kim Pham; Sarah E Neil; Ankita Patel; Trilochan Sahoo; Carlos A Bacino; Pawel Stankiewicz; Sung-Hae Lee Kang; Seema Lalani; A Craig Chinault; James R Lupski; Sau W Cheung; Arthur L Beaudet
Journal:  Pediatrics       Date:  2008-12       Impact factor: 7.124

Review 8.  Copy number variation in human health, disease, and evolution.

Authors:  Feng Zhang; Wenli Gu; Matthew E Hurles; James R Lupski
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

9.  Inverted low-copy repeats and genome instability--a genome-wide analysis.

Authors:  Piotr Dittwald; Tomasz Gambin; Claudia Gonzaga-Jauregui; Claudia M B Carvalho; James R Lupski; Paweł Stankiewicz; Anna Gambin
Journal:  Hum Mutat       Date:  2012-10-11       Impact factor: 4.878

10.  Systematic identification of balanced transposition polymorphisms in Saccharomyces cerevisiae.

Authors:  Dina A Faddah; Eric W Ganko; Caroline McCoach; Joseph K Pickrell; Sean E Hanlon; Frederick G Mann; Joanna O Mieczkowska; Corbin D Jones; Jason D Lieb; Todd J Vision
Journal:  PLoS Genet       Date:  2009-06-05       Impact factor: 5.917
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