Literature DB >> 27920632

Discovering Patterns of Structural Variation by Mining Molecular Fossils.

Martin Poot.   

Abstract

Year:  2016        PMID: 27920632      PMCID: PMC5131329          DOI: 10.1159/000450807

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN: 1661-8769


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  11 in total

Review 1.  Structural variation in the human genome and its role in disease.

Authors:  Paweł Stankiewicz; James R Lupski
Journal:  Annu Rev Med       Date:  2010       Impact factor: 13.739

2.  Relating CNVs to transcriptome data at fine resolution: assessment of the effect of variant size, type, and overlap with functional regions.

Authors:  Andreas Schlattl; Simon Anders; Sebastian M Waszak; Wolfgang Huber; Jan O Korbel
Journal:  Genome Res       Date:  2011-08-23       Impact factor: 9.043

3.  Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.

Authors:  Wigard P Kloosterman; Masoumeh Tavakoli-Yaraki; Markus J van Roosmalen; Ellen van Binsbergen; Ivo Renkens; Karen Duran; Lucia Ballarati; Sarah Vergult; Daniela Giardino; Kerstin Hansson; Claudia A L Ruivenkamp; Myrthe Jager; Arie van Haeringen; Elly F Ippel; Thomas Haaf; Eberhard Passarge; Ron Hochstenbach; Björn Menten; Lidia Larizza; Victor Guryev; Martin Poot; Edwin Cuppen
Journal:  Cell Rep       Date:  2012-06-15       Impact factor: 9.423

4.  De novo rates and selection of large copy number variation.

Authors:  Andy Itsara; Hao Wu; Joshua D Smith; Deborah A Nickerson; Isabelle Romieu; Stephanie J London; Evan E Eichler
Journal:  Genome Res       Date:  2010-09-14       Impact factor: 9.043

Review 5.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Authors:  Martin Poot; Thomas Haaf
Journal:  Mol Syndromol       Date:  2015-08-15

6.  Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.

Authors:  Ron Hochstenbach; Ellen van Binsbergen; John Engelen; Aggie Nieuwint; Abeltje Polstra; Pino Poddighe; Claudia Ruivenkamp; Birgit Sikkema-Raddatz; Dominique Smeets; Martin Poot
Journal:  Eur J Med Genet       Date:  2009-04-09       Impact factor: 2.708

Review 7.  Genome structural variation discovery and genotyping.

Authors:  Can Alkan; Bradley P Coe; Evan E Eichler
Journal:  Nat Rev Genet       Date:  2011-03-01       Impact factor: 53.242

8.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

9.  An integrated map of structural variation in 2,504 human genomes.

Authors:  Peter H Sudmant; Tobias Rausch; Eugene J Gardner; Robert E Handsaker; Alexej Abyzov; John Huddleston; Yan Zhang; Kai Ye; Goo Jun; Markus Hsi-Yang Fritz; Miriam K Konkel; Ankit Malhotra; Adrian M Stütz; Xinghua Shi; Francesco Paolo Casale; Jieming Chen; Fereydoun Hormozdiari; Gargi Dayama; Ken Chen; Maika Malig; Mark J P Chaisson; Klaudia Walter; Sascha Meiers; Seva Kashin; Erik Garrison; Adam Auton; Hugo Y K Lam; Xinmeng Jasmine Mu; Can Alkan; Danny Antaki; Taejeong Bae; Eliza Cerveira; Peter Chines; Zechen Chong; Laura Clarke; Elif Dal; Li Ding; Sarah Emery; Xian Fan; Madhusudan Gujral; Fatma Kahveci; Jeffrey M Kidd; Yu Kong; Eric-Wubbo Lameijer; Shane McCarthy; Paul Flicek; Richard A Gibbs; Gabor Marth; Christopher E Mason; Androniki Menelaou; Donna M Muzny; Bradley J Nelson; Amina Noor; Nicholas F Parrish; Matthew Pendleton; Andrew Quitadamo; Benjamin Raeder; Eric E Schadt; Mallory Romanovitch; Andreas Schlattl; Robert Sebra; Andrey A Shabalin; Andreas Untergasser; Jerilyn A Walker; Min Wang; Fuli Yu; Chengsheng Zhang; Jing Zhang; Xiangqun Zheng-Bradley; Wanding Zhou; Thomas Zichner; Jonathan Sebat; Mark A Batzer; Steven A McCarroll; Ryan E Mills; Mark B Gerstein; Ali Bashir; Oliver Stegle; Scott E Devine; Charles Lee; Evan E Eichler; Jan O Korbel
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

Review 10.  Properties and rates of germline mutations in humans.

Authors:  Catarina D Campbell; Evan E Eichler
Journal:  Trends Genet       Date:  2013-05-16       Impact factor: 11.639

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