Literature DB >> 30849326

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

James R Lupski1.   

Abstract

Mesh：

Year:  2019        PMID： 30849326      PMCID： PMC6407437          DOI： 10.1016/j.ajhg.2018.12.018

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  123 in total

1.  Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Authors:  Weimin Bi; Sung-Sup Park; Christine J Shaw; Marjorie A Withers; Pragna I Patel; James R Lupski
Journal:  Am J Hum Genet       Date:  2003-11-24       Impact factor: 11.025

2.  Clan genomics and the complex architecture of human disease.

Authors:  James R Lupski; John W Belmont; Eric Boerwinkle; Richard A Gibbs
Journal:  Cell       Date:  2011-09-30       Impact factor: 41.582

3.  Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.

Authors:  Svetlana A Yatsenko; Ellen K Brundage; Erin K Roney; Sau Wai Cheung; A Craig Chinault; James R Lupski
Journal:  Hum Mol Genet       Date:  2009-03-17       Impact factor: 6.150

Review 4.  Chromothripsis and human disease: piecing together the shattering process.

Authors:  Christopher A Maher; Richard K Wilson
Journal:  Cell       Date:  2012-01-20       Impact factor: 41.582

5.  Rare chromosomal deletions and duplications increase risk of schizophrenia.

Authors: 
Journal:  Nature       Date:  2008-07-30       Impact factor: 49.962

6.  The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Authors:  P I Patel; B B Roa; A A Welcher; R Schoener-Scott; B J Trask; L Pentao; G J Snipes; C A Garcia; U Francke; E M Shooter; J R Lupski; U Suter
Journal:  Nat Genet       Date:  1992-06       Impact factor: 38.330

7.  Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Authors:  Christopher M Grochowski; Shen Gu; Bo Yuan; Julia Tcw; Kristen J Brennand; Jonathan Sebat; Dheeraj Malhotra; Shane McCarthy; Uwe Rudolph; Anna Lindstrand; Zechen Chong; Deborah L Levy; James R Lupski; Claudia M B Carvalho
Journal:  Hum Mutat       Date:  2018-05-11       Impact factor: 4.878

8.  The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.

Authors:  Feng Zhang; Mehrdad Khajavi; Anne M Connolly; Charles F Towne; Sat Dev Batish; James R Lupski
Journal:  Nat Genet       Date:  2009-06-21       Impact factor: 38.330

9.  Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.

Authors:  Daniel J Turner; Marcos Miretti; Diana Rajan; Heike Fiegler; Nigel P Carter; Martyn L Blayney; Stephan Beck; Matthew E Hurles
Journal:  Nat Genet       Date:  2007-12-02       Impact factor: 38.330

10.  Mendelian Inheritance in Man and its online version, OMIM.

Authors:  Victor A McKusick
Journal:  Am J Hum Genet       Date:  2007-03-08       Impact factor: 11.025
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  8 in total

1.  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 2.  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

3.  Clinical genomics and contextualizing genome variation in the diagnostic laboratory.

Authors:  James R Lupski; Pengfei Liu; Pawel Stankiewicz; Claudia M B Carvalho; Jennifer E Posey
Journal:  Expert Rev Mol Diagn       Date:  2020-10-10       Impact factor: 5.225

4.  CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

Authors:  Bo Yuan; Lei Wang; Pengfei Liu; Chad Shaw; Hongzheng Dai; Lance Cooper; Wenmiao Zhu; Stephanie A Anderson; Linyan Meng; Xia Wang; Yue Wang; Fan Xia; Rui Xiao; Alicia Braxton; Sandra Peacock; Eric Schmitt; Patricia A Ward; Francesco Vetrini; Weimin He; Theodore Chiang; Donna Muzny; Richard A Gibbs; Arthur L Beaudet; Amy M Breman; Janice Smith; Sau Wai Cheung; Carlos A Bacino; Christine M Eng; Yaping Yang; James R Lupski; Weimin Bi
Journal:  Genet Med       Date:  2020-06-24       Impact factor: 8.822

5.  Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants.

Authors:  Vahid Bahrambeigi; Xiaofei Song; Karen Sperle; Christine R Beck; Hadia Hijazi; Christopher M Grochowski; Shen Gu; Pavel Seeman; Karen J Woodward; Claudia M B Carvalho; Grace M Hobson; James R Lupski
Journal:  Genome Med       Date:  2019-12-09       Impact factor: 11.117

Review 6.  Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.

Authors:  Valentina La Cognata; Sebastiano Cavallaro
Journal:  Biomedicines       Date:  2022-07-29

7.  Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.

Authors:  Bo Yuan; Katharina V Schulze; Nurit Assia Batzir; Jefferson Sinson; Hongzheng Dai; Wenmiao Zhu; Francia Bocanegra; Chin-To Fong; Jimmy Holder; Joanne Nguyen; Christian P Schaaf; Yaping Yang; Weimin Bi; Christine Eng; Chad Shaw; James R Lupski; Pengfei Liu
Journal:  Genome Med       Date:  2022-09-30       Impact factor: 15.266

8.  Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.

Authors:  Xiaojun Ren; Nan Yang; Nan Wu; Jiangang Shi; Feng Zhang; Pengfei Liu; Ximing Xu; Weisheng Chen; Ling Zhang; Yingping Li; Ren-Qian Du; Shuangshuang Dong; Sen Zhao; Shuxia Chen; Li-Ping Jiang; Lianlei Wang; Jianguo Zhang; Zhihong Wu; Li Jin; Guixing Qiu; James R Lupski
Journal:  J Med Genet       Date:  2019-12-30       Impact factor: 5.941
  8 in total

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