Literature DB >> 23037932

Duplications, deletions, and single-nucleotide variations: the complexity of genetic arithmetic.

Vincent M Riccardi1, James R Lupski.   

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Year:  2012        PMID： 23037932     DOI： 10.1038/gim.2012.124

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  7 in total

1.  2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements.

Authors:  James R Lupski
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

Review 2.  Structural variation mutagenesis of the human genome: Impact on disease and evolution.

Authors:  James R Lupski
Journal:  Environ Mol Mutagen       Date:  2015-04-17       Impact factor: 3.216

3.  Clan genomics: From OMIM phenotypic traits to genes and biology.

Authors:  James R Lupski
Journal:  Am J Med Genet A       Date:  2021-08-18       Impact factor: 2.802

Review 4.  Biology in balance: human diploid genome integrity, gene dosage, and genomic medicine.

Authors:  James R Lupski
Journal:  Trends Genet       Date:  2022-04-18       Impact factor: 11.821

5.  Integrated analyses of copy number variations and gene differential expression in lung squamous-cell carcinoma.

Authors:  Zhao Yang; Bing Zhuan; Ying Yan; Simin Jiang; Tao Wang
Journal:  Biol Res       Date:  2015-08-22       Impact factor: 5.612

6.  Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.

Authors:  Claudia M B Carvalho; Zeynep Coban-Akdemir; Hadia Hijazi; Bo Yuan; Matthew Pendleton; Eoghan Harrington; John Beaulaurier; Sissel Juul; Daniel J Turner; Rupa S Kanchi; Shalini N Jhangiani; Donna M Muzny; Richard A Gibbs; Pawel Stankiewicz; John W Belmont; Chad A Shaw; Sau Wai Cheung; Neil A Hanchard; V Reid Sutton; Patricia I Bader; James R Lupski
Journal:  Genome Med       Date:  2019-04-23       Impact factor: 11.117

7.  Rationale for the Cytogenomics of Cardiovascular Malformations Consortium: A Phenotype Intensive Registry Based Approach.

Authors:  Robert B Hinton; Kim L McBride; Steven B Bleyl; Neil E Bowles; William L Border; Vidu Garg; Teresa A Smolarek; Seema R Lalani; Stephanie M Ware
Journal:  J Cardiovasc Dev Dis       Date:  2015-04-29
  7 in total

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