Literature DB >> 26733774

Double, Double Toil and Trouble.

Martin Poot.   

Abstract

Year:  2015        PMID： 26733774      PMCID： PMC4698624          DOI： 10.1159/000437009

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


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  24 in total

1.  Recent segmental duplications in the human genome.

Authors:  Jeffrey A Bailey; Zhiping Gu; Royden A Clark; Knut Reinert; Rhea V Samonte; Stuart Schwartz; Mark D Adams; Eugene W Myers; Peter W Li; Evan E Eichler
Journal:  Science       Date:  2002-08-09       Impact factor: 47.728

2.  Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Authors:  Andrew J Sharp; Sierra Hansen; Rebecca R Selzer; Ze Cheng; Regina Regan; Jane A Hurst; Helen Stewart; Sue M Price; Edward Blair; Raoul C Hennekam; Carrie A Fitzpatrick; Rick Segraves; Todd A Richmond; Cheryl Guiver; Donna G Albertson; Daniel Pinkel; Peggy S Eis; Stuart Schwartz; Samantha J L Knight; Evan E Eichler
Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

3.  Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.

Authors:  Aliya Ishmukhametova; Jian-Min Chen; Rafaëlle Bernard; Bernard de Massy; Frédéric Baudat; Amandine Boyer; Déborah Méchin; Delphine Thorel; Brigitte Chabrol; Marie-Claire Vincent; Philippe Khau Van Kien; Mireille Claustres; Sylvie Tuffery-Giraud
Journal:  Hum Mutat       Date:  2013-06-03       Impact factor: 4.878

Review 4.  Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.

Authors:  R Hochstenbach; J E Buizer-Voskamp; J A S Vorstman; R A Ophoff
Journal:  Cytogenet Genome Res       Date:  2011-11-02       Impact factor: 1.636

Review 5.  Phenotypic variability and genetic susceptibility to genomic disorders.

Authors:  Santhosh Girirajan; Evan E Eichler
Journal:  Hum Mol Genet       Date:  2010-08-31       Impact factor: 6.150

6.  Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.

Authors:  Keiko Shimojima; Toshiyuki Mano; Mitsuru Kashiwagi; Takuya Tanabe; Midori Sugawara; Nobuhiko Okamoto; Hiroshi Arai; Toshiyuki Yamamoto
Journal:  Eur J Med Genet       Date:  2012-03-21       Impact factor: 2.708

Review 7.  Mechanisms of change in gene copy number.

Authors:  P J Hastings; James R Lupski; Susan M Rosenberg; Grzegorz Ira
Journal:  Nat Rev Genet       Date:  2009-08       Impact factor: 53.242

8.  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

9.  Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.

Authors:  Christine R Beck; Claudia M B Carvalho; Linda Banser; Tomasz Gambin; Danielle Stubbolo; Bo Yuan; Karen Sperle; Suzanne M McCahan; Marco Henneke; Pavel Seeman; James Y Garbern; Grace M Hobson; James R Lupski
Journal:  PLoS Genet       Date:  2015-03-06       Impact factor: 5.917

10.  Mapping and sequencing of structural variation from eight human genomes.

Authors:  Jeffrey M Kidd; Gregory M Cooper; William F Donahue; Hillary S Hayden; Nick Sampas; Tina Graves; Nancy Hansen; Brian Teague; Can Alkan; Francesca Antonacci; Eric Haugen; Troy Zerr; N Alice Yamada; Peter Tsang; Tera L Newman; Eray Tüzün; Ze Cheng; Heather M Ebling; Nadeem Tusneem; Robert David; Will Gillett; Karen A Phelps; Molly Weaver; David Saranga; Adrianne Brand; Wei Tao; Erik Gustafson; Kevin McKernan; Lin Chen; Maika Malig; Joshua D Smith; Joshua M Korn; Steven A McCarroll; David A Altshuler; Daniel A Peiffer; Michael Dorschner; John Stamatoyannopoulos; David Schwartz; Deborah A Nickerson; James C Mullikin; Richard K Wilson; Laurakay Bruhn; Maynard V Olson; Rajinder Kaul; Douglas R Smith; Evan E Eichler
Journal:  Nature       Date:  2008-05-01       Impact factor: 49.962
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