Literature DB >> 22999336

Brain copy number variants and neuropsychiatric traits.

James R Lupski1.   

Abstract

Mesh：

Year:  2012        PMID： 22999336     DOI： 10.1016/j.biopsych.2012.08.007

Source DB:  PubMed          Journal:  Biol Psychiatry        ISSN： 0006-3223            Impact factor:   13.382


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  6 in total

1.  Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.

Authors:  Guia Guffanti; Federica Torri; Jerod Rasmussen; Andrew P Clark; Anita Lakatos; Jessica A Turner; James H Fallon; Andrew J Saykin; Michael Weiner; Marquis P Vawter; James A Knowles; Steven G Potkin; Fabio Macciardi
Journal:  Genomics       Date:  2013-04-11       Impact factor: 5.736

2.  CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Authors:  Claudia Soler-Alfonso; Claudia M B Carvalho; Jun Ge; Erin K Roney; Patricia I Bader; Katarzyna E Kolodziejska; Rachel M Miller; James R Lupski; Pawel Stankiewicz; Sau Wai Cheung; Weimin Bi; Christian P Schaaf
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

3.  Letter to the Editor: Hypothesis: Somatic Mosaicism and Parkinson Disease.

Authors:  C Perandones; L A Pellene; J C Giugni; D S Calvo; G B Raina; S M Cuevas; I F Mata; C P Zabetian; M Caputo; D Corach; F E Micheli; M Radrizzani
Journal:  Exp Neurobiol       Date:  2015-04-24       Impact factor: 3.261

Review 4.  Coherent somatic mutation in autoimmune disease.

Authors:  Kenneth Andrew Ross
Journal:  PLoS One       Date:  2014-07-02       Impact factor: 3.240

5.  Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Authors:  Christos Proukakis; Maryiam Shoaee; James Morris; Timothy Brier; Eleanna Kara; Una-Marie Sheerin; Gavin Charlesworth; Eduardo Tolosa; Henry Houlden; Nicholas W Wood; Anthony H Schapira
Journal:  Mov Disord       Date:  2014-04-21       Impact factor: 10.338

6.  Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.

Authors:  Joanna Wiszniewska; Weimin Bi; Chad Shaw; Pawel Stankiewicz; Sung-Hae L Kang; Amber N Pursley; Seema Lalani; Patricia Hixson; Tomasz Gambin; Chun-hui Tsai; Hans-Georg Bock; Maria Descartes; Frank J Probst; Fernando Scaglia; Arthur L Beaudet; James R Lupski; Christine Eng; Sau Wai Cheung; Carlos Bacino; Ankita Patel
Journal:  Eur J Hum Genet       Date:  2013-05-22       Impact factor: 4.246
  6 in total

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