Literature DB >> 27485411

Copy number variation of the REXO1L1 gene cluster; euchromatic deletion variant or susceptibility factor?

John C K Barber1, Andrew J Sharp2, Edward J Hollox3, Christine Tyson4.   

Abstract

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Year:  2016        PMID： 27485411      PMCID： PMC5159753          DOI： 10.1038/ejhg.2016.104

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  10 in total

1.  Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease.

Authors:  Nora Fernandez-Jimenez; Ainara Castellanos-Rubio; Leticia Plaza-Izurieta; Galder Gutierrez; Luis Castaño; Juan Carlos Vitoria; Jose Ramon Bilbao
Journal:  Hum Immunol       Date:  2010-05-17       Impact factor: 2.850

2.  Global variation in copy number in the human genome.

Authors:  Richard Redon; Shumpei Ishikawa; Karen R Fitch; Lars Feuk; George H Perry; T Daniel Andrews; Heike Fiegler; Michael H Shapero; Andrew R Carson; Wenwei Chen; Eun Kyung Cho; Stephanie Dallaire; Jennifer L Freeman; Juan R González; Mònica Gratacòs; Jing Huang; Dimitrios Kalaitzopoulos; Daisuke Komura; Jeffrey R MacDonald; Christian R Marshall; Rui Mei; Lyndal Montgomery; Kunihiro Nishimura; Kohji Okamura; Fan Shen; Martin J Somerville; Joelle Tchinda; Armand Valsesia; Cara Woodwark; Fengtang Yang; Junjun Zhang; Tatiana Zerjal; Jane Zhang; Lluis Armengol; Donald F Conrad; Xavier Estivill; Chris Tyler-Smith; Nigel P Carter; Hiroyuki Aburatani; Charles Lee; Keith W Jones; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2006-11-23       Impact factor: 49.962

3.  Characterising and predicting haploinsufficiency in the human genome.

Authors:  Ni Huang; Insuk Lee; Edward M Marcotte; Matthew E Hurles
Journal:  PLoS Genet       Date:  2010-10-14       Impact factor: 5.917

4.  Benign copy number changes in clinical cytogenetic diagnostics by array CGH.

Authors:  H Whitby; A Tsalenko; E Aston; P Tsang; S Mitchell; P Bayrak-Toydemir; C Hopkins; G Peters; D K Bailey; L Bruhn; A R Brothman
Journal:  Cytogenet Genome Res       Date:  2009-03-11       Impact factor: 1.636

Review 5.  Human gene copy number variation and infectious disease.

Authors:  Edward J Hollox; Boon-Peng Hoh
Journal:  Hum Genet       Date:  2014-06-05       Impact factor: 4.132

6.  Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

Authors:  Maria Rosaria D'Apice; Antonio Novelli; Alessandra di Masi; Michela Biancolella; Antonio Antoccia; Francesca Gullotta; Norma Licata; Daniela Minella; Barbara Testa; Anna Maria Nardone; Giampiero Palmieri; Emma Calabrese; Livia Biancone; Caterina Tanzarella; Marina Frontali; Federica Sangiuolo; Giuseppe Novelli; Francesco Pallone
Journal:  BMC Med Genet       Date:  2015-04-02       Impact factor: 2.103

7.  Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.

Authors:  Christine Tyson; Andrew J Sharp; Monica Hrynchak; Siu L Yong; Edward J Hollox; Peter Warburton; John Ck Barber
Journal:  Eur J Hum Genet       Date:  2013-09-18       Impact factor: 4.246

8.  Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.

Authors:  Xander Nuttle; Andy Itsara; Jay Shendure; Evan E Eichler
Journal:  Nat Protoc       Date:  2014-05-29       Impact factor: 13.491

9.  Analysis of the largest tandemly repeated DNA families in the human genome.

Authors:  Peter E Warburton; Dan Hasson; Flavia Guillem; Chloe Lescale; Xiaoping Jin; Gyorgy Abrusan
Journal:  BMC Genomics       Date:  2008-11-07       Impact factor: 3.969

10.  Digital genotyping of macrosatellites and multicopy genes reveals novel biological functions associated with copy number variation of large tandem repeats.

Authors:  Manisha Brahmachary; Audrey Guilmatre; Javier Quilez; Dan Hasson; Christelle Borel; Peter Warburton; Andrew J Sharp
Journal:  PLoS Genet       Date:  2014-06-19       Impact factor: 5.917
  10 in total

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