Literature DB >> 15800641

Frequency of new copy number variation in humans.

Gert-Jan B van Ommen.   

Abstract

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Year:  2005        PMID： 15800641     DOI： 10.1038/ng0405-333

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


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  29 in total

1.  High-resolution human genome structure by single-molecule analysis.

Authors:  Brian Teague; Michael S Waterman; Steven Goldstein; Konstantinos Potamousis; Shiguo Zhou; Susan Reslewic; Deepayan Sarkar; Anton Valouev; Christopher Churas; Jeffrey M Kidd; Scott Kohn; Rodney Runnheim; Casey Lamers; Dan Forrest; Michael A Newton; Evan E Eichler; Marijo Kent-First; Urvashi Surti; Miron Livny; David C Schwartz
Journal:  Proc Natl Acad Sci U S A       Date:  2010-06-01       Impact factor: 11.205

2.  Identification of copy number variation hotspots in human populations.

Authors:  Wenqing Fu; Feng Zhang; Yi Wang; Xun Gu; Li Jin
Journal:  Am J Hum Genet       Date:  2010-10-08       Impact factor: 11.025

3.  Age-related somatic structural changes in the nuclear genome of human blood cells.

Authors:  Lars A Forsberg; Chiara Rasi; Hamid R Razzaghian; Geeta Pakalapati; Lindsay Waite; Krista Stanton Thilbeault; Anna Ronowicz; Nathan E Wineinger; Hemant K Tiwari; Dorret Boomsma; Maxwell P Westerman; Jennifer R Harris; Robert Lyle; Magnus Essand; Fredrik Eriksson; Themistocles L Assimes; Carlos Iribarren; Eric Strachan; Terrance P O'Hanlon; Lisa G Rider; Frederick W Miller; Vilmantas Giedraitis; Lars Lannfelt; Martin Ingelsson; Arkadiusz Piotrowski; Nancy L Pedersen; Devin Absher; Jan P Dumanski
Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

4.  Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles.

Authors:  Carl E G Bruder; Arkadiusz Piotrowski; Antoinet A C J Gijsbers; Robin Andersson; Stephen Erickson; Teresita Diaz de Ståhl; Uwe Menzel; Johanna Sandgren; Desiree von Tell; Andrzej Poplawski; Michael Crowley; Chiquito Crasto; E Christopher Partridge; Hemant Tiwari; David B Allison; Jan Komorowski; Gert-Jan B van Ommen; Dorret I Boomsma; Nancy L Pedersen; Johan T den Dunnen; Karin Wirdefeldt; Jan P Dumanski
Journal:  Am J Hum Genet       Date:  2008-02-14       Impact factor: 11.025

5.  The evolution of genetic architectures underlying quantitative traits.

Authors:  Etienne Rajon; Joshua B Plotkin
Journal:  Proc Biol Sci       Date:  2013-08-28       Impact factor: 5.349

6.  The causality of de novo copy number variants is overestimated.

Authors:  Joris R Vermeesch; Irina Balikova; Connie Schrander-Stumpel; Jean-Pierre Fryns; Koenraad Devriendt
Journal:  Eur J Hum Genet       Date:  2011-05-18       Impact factor: 4.246

7.  CNV instability associated with DNA replication dynamics: evidence for replicative mechanisms in CNV mutagenesis.

Authors:  Lu Chen; Weichen Zhou; Cheng Zhang; James R Lupski; Li Jin; Feng Zhang
Journal:  Hum Mol Genet       Date:  2014-11-14       Impact factor: 6.150

8.  Genomic imbalance in subjects with idiopathic intellectual disability detected by multiplex ligation-dependent probe amplification.

Authors:  Shruthi Mohan; Vettriselvi Venkatesan; Solomon Fd Paul; Teena Koshy; Venkatachalam Perumal
Journal:  J Genet       Date:  2016-06       Impact factor: 1.166

Review 9.  Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Authors:  Claudia M B Carvalho; Feng Zhang; James R Lupski
Journal:  Proc Natl Acad Sci U S A       Date:  2010-01-13       Impact factor: 11.205

Review 10.  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
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