Literature DB >> 32021602

Genomic Earthquakes in the Human Germline and Their Ramifications.

Martin Poot.   

Abstract

Entities:  

Year:  2019        PMID： 32021602      PMCID： PMC6995949          DOI： 10.1159/000503366

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


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  23 in total

1.  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

Review 2.  Structural Genome Variations Related to Craniosynostosis.

Authors:  Martin Poot
Journal:  Mol Syndromol       Date:  2018-07-07

3.  Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.

Authors:  Lusine Nazaryan-Petersen; Birgitte Bertelsen; Mads Bak; Lars Jønson; Niels Tommerup; Dustin C Hancks; Zeynep Tümer
Journal:  Hum Mutat       Date:  2016-02-04       Impact factor: 4.878

4.  Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.

Authors:  Wigard P Kloosterman; Victor Guryev; Mark van Roosmalen; Karen J Duran; Ewart de Bruijn; Saskia C M Bakker; Tom Letteboer; Bernadette van Nesselrooij; Ron Hochstenbach; Martin Poot; Edwin Cuppen
Journal:  Hum Mol Genet       Date:  2011-02-24       Impact factor: 6.150

5.  Chromothripsis and Kataegis Induced by Telomere Crisis.

Authors:  John Maciejowski; Yilong Li; Nazario Bosco; Peter J Campbell; Titia de Lange
Journal:  Cell       Date:  2015-12-17       Impact factor: 41.582

6.  Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Authors:  Christine R Beck; Claudia M B Carvalho; Zeynep C Akdemir; Fritz J Sedlazeck; Xiaofei Song; Qingchang Meng; Jianhong Hu; Harsha Doddapaneni; Zechen Chong; Edward S Chen; Philip C Thornton; Pengfei Liu; Bo Yuan; Marjorie Withers; Shalini N Jhangiani; Divya Kalra; Kimberly Walker; Adam C English; Yi Han; Ken Chen; Donna M Muzny; Grzegorz Ira; Chad A Shaw; Richard A Gibbs; P J Hastings; James R Lupski
Journal:  Cell       Date:  2019-02-28       Impact factor: 41.582

7.  Genome chaos: survival strategy during crisis.

Authors:  Guo Liu; Joshua B Stevens; Steven D Horne; Batoul Y Abdallah; Karen J Ye; Steven W Bremer; Christine J Ye; David J Chen; Henry H Heng
Journal:  Cell Cycle       Date:  2013-12-03       Impact factor: 4.534

Review 8.  Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

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

9.  A germline chromothripsis event stably segregating in 11 individuals through three generations.

Authors:  Birgitte Bertelsen; Lusine Nazaryan-Petersen; Wei Sun; Mana M Mehrjouy; Gangcai Xie; Wei Chen; Lena E Hjermind; Peter E M Taschner; Zeynep Tümer
Journal:  Genet Med       Date:  2015-08-27       Impact factor: 8.822

10.  The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.

Authors:  Lusine Nazaryan; Eunice G Stefanou; Claus Hansen; Nadezda Kosyakova; Mads Bak; Freddie H Sharkey; Theodora Mantziou; Anastasios D Papanastasiou; Voula Velissariou; Thomas Liehr; Maria Syrrou; Niels Tommerup
Journal:  Eur J Hum Genet       Date:  2013-07-17       Impact factor: 4.246
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