Literature DB >> 15338647

Genomic disorders: genome architecture results in susceptibility to DNA rearrangements causing common human traits.

P Stankiewicz1, K Inoue, W Bi, K Walz, S S Park, N Kurotaki, C J Shaw, P Fonseca, J Yan, J A Lee, M Khajavi, J R Lupski.   

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Year:  2003        PMID： 15338647     DOI： 10.1101/sqb.2003.68.445

Source DB:  PubMed          Journal:  Cold Spring Harb Symp Quant Biol        ISSN： 0091-7451


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  11 in total

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Review 2.  Replication stress and mechanisms of CNV formation.

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Journal:  Curr Opin Genet Dev       Date:  2012-02-23       Impact factor: 5.578

3.  Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

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4.  Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

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5.  Sensorineural deafness and male infertility: a contiguous gene deletion syndrome.

Authors:  Yuzhou Zhang; Mahdi Malekpour; Navid Al-Madani; Kimia Kahrizi; Marvam Zanganeh; Naomi J Lohr; Marzieh Mohseni; Faezeh Mojahedi; Ahmad Daneshi; Hossein Najmabadi; Richard J H Smith
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6.  Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.

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Review 7.  Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution.

Authors:  Claudia M B Carvalho; Feng Zhang; James R Lupski
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Journal:  Proc Natl Acad Sci U S A       Date:  2015-11-17       Impact factor: 11.205

Review 9.  Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

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10.  De novo CNV formation in mouse embryonic stem cells occurs in the absence of Xrcc4-dependent nonhomologous end joining.

Authors:  Martin F Arlt; Sountharia Rajendran; Shanda R Birkeland; Thomas E Wilson; Thomas W Glover
Journal:  PLoS Genet       Date:  2012-09-20       Impact factor: 5.917
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