James R Lupski, Pawel Stankiewicz. PLoS Genet 2005
Times Cited: 411
Times Cited: 411
Times Cited
Times Co-cited
Similarity
Global variation in copy number in the human genome.
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,[...]. Nature 2006
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,[...]. Nature 2006
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Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
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Mechanisms for human genomic rearrangements.
Wenli Gu, Feng Zhang, James R Lupski. Pathogenetics 2008
Wenli Gu, Feng Zhang, James R Lupski. Pathogenetics 2008
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Origins and functional impact of copy number variation in the human genome.
Donald F Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Yujun Zhang, Jan Aerts, T Daniel Andrews, Chris Barnes, Peter Campbell,[...]. Nature 2010
Donald F Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Yujun Zhang, Jan Aerts, T Daniel Andrews, Chris Barnes, Peter Campbell,[...]. Nature 2010
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Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
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Large-scale copy number polymorphism in the human genome.
Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi,[...]. Science 2004
Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi,[...]. Science 2004
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A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders.
Jennifer A Lee, Claudia M B Carvalho, James R Lupski. Cell 2007
Jennifer A Lee, Claudia M B Carvalho, James R Lupski. Cell 2007
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Detection of large-scale variation in the human genome.
A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
10
Copy number variation: new insights in genome diversity.
Jennifer L Freeman, George H Perry, Lars Feuk, Richard Redon, Steven A McCarroll, David M Altshuler, Hiroyuki Aburatani, Keith W Jones, Chris Tyler-Smith, Matthew E Hurles,[...]. Genome Res 2006
Jennifer L Freeman, George H Perry, Lars Feuk, Richard Redon, Steven A McCarroll, David M Altshuler, Hiroyuki Aburatani, Keith W Jones, Chris Tyler-Smith, Matthew E Hurles,[...]. Genome Res 2006
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Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
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Diet and the evolution of human amylase gene copy number variation.
George H Perry, Nathaniel J Dominy, Katrina G Claw, Arthur S Lee, Heike Fiegler, Richard Redon, John Werner, Fernando A Villanea, Joanna L Mountain, Rajeev Misra,[...]. Nat Genet 2007
George H Perry, Nathaniel J Dominy, Katrina G Claw, Arthur S Lee, Heike Fiegler, Richard Redon, John Werner, Fernando A Villanea, Joanna L Mountain, Rajeev Misra,[...]. Nat Genet 2007
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Copy number variation in the bovine genome.
João Fadista, Bo Thomsen, Lars-Erik Holm, Christian Bendixen. BMC Genomics 2010
João Fadista, Bo Thomsen, Lars-Erik Holm, Christian Bendixen. BMC Genomics 2010
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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
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Mechanisms of change in gene copy number.
P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira. Nat Rev Genet 2009
P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira. Nat Rev Genet 2009
8
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski. Nat Genet 2009
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski. Nat Genet 2009
8
Mapping copy number variation by population-scale genome sequencing.
Ryan E Mills, Klaudia Walter, Chip Stewart, Robert E Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Chris Yoon, Kai Ye, R Keira Cheetham,[...]. Nature 2011
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Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
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BEDTools: a flexible suite of utilities for comparing genomic features.
Aaron R Quinlan, Ira M Hall. Bioinformatics 2010
Aaron R Quinlan, Ira M Hall. Bioinformatics 2010
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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
8
Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
7
Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
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Structural variation of chromosomes in autism spectrum disorder.
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
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Complex human chromosomal and genomic rearrangements.
Feng Zhang, Claudia M B Carvalho, James R Lupski. Trends Genet 2009
Feng Zhang, Claudia M B Carvalho, James R Lupski. Trends Genet 2009
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Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits.
J R Lupski. Trends Genet 1998
J R Lupski. Trends Genet 1998
7
The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
7
A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
6
Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
6
Paired-end mapping reveals extensive structural variation in the human genome.
Jan O Korbel, Alexander Eckehart Urban, Jason P Affourtit, Brian Godwin, Fabian Grubert, Jan Fredrik Simons, Philip M Kim, Dean Palejev, Nicholas J Carriero, Lei Du,[...]. Science 2007
Jan O Korbel, Alexander Eckehart Urban, Jason P Affourtit, Brian Godwin, Fabian Grubert, Jan Fredrik Simons, Philip M Kim, Dean Palejev, Nicholas J Carriero, Lei Du,[...]. Science 2007
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CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing.
Alexej Abyzov, Alexander E Urban, Michael Snyder, Mark Gerstein. Genome Res 2011
Alexej Abyzov, Alexander E Urban, Michael Snyder, Mark Gerstein. Genome Res 2011
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Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
6
Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
6
Relative impact of nucleotide and copy number variation on gene expression phenotypes.
Barbara E Stranger, Matthew S Forrest, Mark Dunning, Catherine E Ingle, Claude Beazley, Natalie Thorne, Richard Redon, Christine P Bird, Anna de Grassi, Charles Lee,[...]. Science 2007
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Genome architecture, rearrangements and genomic disorders.
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
6
A microhomology-mediated break-induced replication model for the origin of human copy number variation.
P J Hastings, Grzegorz Ira, James R Lupski. PLoS Genet 2009
P J Hastings, Grzegorz Ira, James R Lupski. PLoS Genet 2009
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A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
6
Global diversity, population stratification, and selection of human copy-number variation.
Peter H Sudmant, Swapan Mallick, Bradley J Nelson, Fereydoun Hormozdiari, Niklas Krumm, John Huddleston, Bradley P Coe, Carl Baker, Susanne Nordenfelt, Michael Bamshad,[...]. Science 2015
Peter H Sudmant, Swapan Mallick, Bradley J Nelson, Fereydoun Hormozdiari, Niklas Krumm, John Huddleston, Bradley P Coe, Carl Baker, Susanne Nordenfelt, Michael Bamshad,[...]. Science 2015
6
Copy number variation of individual cattle genomes using next-generation sequencing.
Derek M Bickhart, Yali Hou, Steven G Schroeder, Can Alkan, Maria Francesca Cardone, Lakshmi K Matukumalli, Jiuzhou Song, Robert D Schnabel, Mario Ventura, Jeremy F Taylor,[...]. Genome Res 2012
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5
Copy-number variations associated with neuropsychiatric conditions.
Edwin H Cook, Stephen W Scherer. Nature 2008
Edwin H Cook, Stephen W Scherer. Nature 2008
5
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
Stefano Colella, Christopher Yau, Jennifer M Taylor, Ghazala Mirza, Helen Butler, Penny Clouston, Anne S Bassett, Anneke Seller, Christopher C Holmes, Jiannis Ragoussis. Nucleic Acids Res 2007
Stefano Colella, Christopher Yau, Jennifer M Taylor, Ghazala Mirza, Helen Butler, Penny Clouston, Anne S Bassett, Anneke Seller, Christopher C Holmes, Jiannis Ragoussis. Nucleic Acids Res 2007
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Analysis of copy number variations in the sheep genome using 50K SNP BeadChip array.
Jiasen Liu, Li Zhang, Lingyang Xu, Hangxing Ren, Jian Lu, Xiaoning Zhang, Shifang Zhang, Xinlei Zhou, Caihong Wei, Fuping Zhao,[...]. BMC Genomics 2013
Jiasen Liu, Li Zhang, Lingyang Xu, Hangxing Ren, Jian Lu, Xiaoning Zhang, Shifang Zhang, Xinlei Zhou, Caihong Wei, Fuping Zhao,[...]. BMC Genomics 2013
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An initial comparative map of copy number variations in the goat (Capra hircus) genome.
Luca Fontanesi, Pier Luigi Martelli, Francesca Beretti, Valentina Riggio, Stefania Dall'Olio, Michela Colombo, Rita Casadio, Vincenzo Russo, Baldassare Portolano. BMC Genomics 2010
Luca Fontanesi, Pier Luigi Martelli, Francesca Beretti, Valentina Riggio, Stefania Dall'Olio, Michela Colombo, Rita Casadio, Vincenzo Russo, Baldassare Portolano. BMC Genomics 2010
5
The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility.
Enrique Gonzalez, Hemant Kulkarni, Hector Bolivar, Andrea Mangano, Racquel Sanchez, Gabriel Catano, Robert J Nibbs, Barry I Freedman, Marlon P Quinones, Michael J Bamshad,[...]. Science 2005
Enrique Gonzalez, Hemant Kulkarni, Hector Bolivar, Andrea Mangano, Racquel Sanchez, Gabriel Catano, Robert J Nibbs, Barry I Freedman, Marlon P Quinones, Michael J Bamshad,[...]. Science 2005
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Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
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The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
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Diversity of human copy number variation and multicopy genes.
Peter H Sudmant, Jacob O Kitzman, Francesca Antonacci, Can Alkan, Maika Malig, Anya Tsalenko, Nick Sampas, Laurakay Bruhn, Jay Shendure, Evan E Eichler. Science 2010
Peter H Sudmant, Jacob O Kitzman, Francesca Antonacci, Can Alkan, Maika Malig, Anya Tsalenko, Nick Sampas, Laurakay Bruhn, Jay Shendure, Evan E Eichler. Science 2010
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Copy number variation in the horse genome.
Sharmila Ghosh, Zhipeng Qu, Pranab J Das, Erica Fang, Rytis Juras, E Gus Cothran, Sue McDonell, Daniel G Kenney, Teri L Lear, David L Adelson,[...]. PLoS Genet 2014
Sharmila Ghosh, Zhipeng Qu, Pranab J Das, Erica Fang, Rytis Juras, E Gus Cothran, Sue McDonell, Daniel G Kenney, Teri L Lear, David L Adelson,[...]. PLoS Genet 2014
11
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
5
TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
5
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.