A citation-based method for searching scientific literature


List of co-cited articles
492 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
276
29

An integrated map of structural variation in 2,504 human genomes.
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz,[...]. Nature 2015
999
25


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
151
18


Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
676
16

Absence of heterozygosity due to template switching during replicative rearrangements.
Claudia M B Carvalho, Rolph Pfundt, Daniel A King, Sarah J Lindsay, Luciana W Zuccherato, Merryn V E Macville, Pengfei Liu, Diana Johnson, Pawel Stankiewicz, Chester W Brown,[...]. Am J Hum Genet 2015
37
29

Assessing structural variation in a personal genome-towards a human reference diploid genome.
Adam C English, William J Salerno, Oliver A Hampton, Claudia Gonzaga-Jauregui, Shruthi Ambreth, Deborah I Ritter, Christine R Beck, Caleb F Davis, Mahmoud Dahdouli, Singer Ma,[...]. BMC Genomics 2015
88
15

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
300
15

Accurate detection of complex structural variations using single-molecule sequencing.
Fritz J Sedlazeck, Philipp Rescheneder, Moritz Smolka, Han Fang, Maria Nattestad, Arndt von Haeseler, Michael C Schatz. Nat Methods 2018
390
15


Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, Shweta U Dhar, Katarzyna E Kołodziejska, Avinash V Dharmadhikari, M Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie A Withers,[...]. Cell 2011
286
14

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
819
12

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M Boone, Bo Yuan, Ian M Campbell, Jennifer C Scull, Marjorie A Withers, Brett C Baggett, Christine R Beck, Christine J Shaw, Pawel Stankiewicz, Paolo Moretti,[...]. Am J Hum Genet 2014
60
15

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Claudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, Luis M Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna McCall, Eniko Karman Pivnick, Stacy Hines-Dowell, Laurie H Seaver,[...]. Nat Genet 2011
128
12

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
12

Discovery and genotyping of structural variation from long-read haploid genome sequence data.
John Huddleston, Mark J P Chaisson, Karyn Meltz Steinberg, Wes Warren, Kendra Hoekzema, David Gordon, Tina A Graves-Lindsay, Katherine M Munson, Zev N Kronenberg, Laura Vives,[...]. Genome Res 2017
159
12

Genomic disorders ten years on.
James R Lupski. Genome Med 2009
107
11

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
K S Chen, P Manian, T Koeuth, L Potocki, Q Zhao, A C Chinault, C C Lee, J R Lupski. Nat Genet 1997
288
11

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Lorraine Potocki, Weimin Bi, Diane Treadwell-Deering, Claudia M B Carvalho, Anna Eifert, Ellen M Friedman, Daniel Glaze, Kevin Krull, Jennifer A Lee, Richard Alan Lewis,[...]. Am J Hum Genet 2007
254
11

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
11

Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R Beck, Claudia M B Carvalho, Sau Wai Cheung,[...]. Am J Hum Genet 2015
21
38

Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
759
11

Phenotypic impact of genomic structural variation: insights from and for human disease.
Joachim Weischenfeldt, Orsolya Symmons, François Spitz, Jan O Korbel. Nat Rev Genet 2013
259
11

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
9

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond,[...]. PLoS Biol 2010
70
10

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
701
9

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Pengfei Liu, Melanie Lacaria, Feng Zhang, Marjorie Withers, P J Hastings, James R Lupski. Am J Hum Genet 2011
74
9

Mutations in RAI1 associated with Smith-Magenis syndrome.
Rebecca E Slager, Tiffany Lynn Newton, Christopher N Vlangos, Brenda Finucane, Sarah H Elsea. Nat Genet 2003
204
9

Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
L Potocki, K S Chen, S S Park, D E Osterholm, M A Withers, V Kimonis, A M Summers, W S Meschino, K Anyane-Yeboa, C D Kashork,[...]. Nat Genet 2000
237
9

Replicative mechanisms for CNV formation are error prone.
Claudia M B Carvalho, Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings, James R Lupski. Nat Genet 2013
90
9

Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Philip J Stephens, Chris D Greenman, Beiyuan Fu, Fengtang Yang, Graham R Bignell, Laura J Mudie, Erin D Pleasance, King Wai Lau, David Beare, Lucy A Stebbings,[...]. Cell 2011
9


DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Ryan Mayle, Ian M Campbell, Christine R Beck, Yang Yu, Marenda Wilson, Chad A Shaw, Lotte Bjergbaek, James R Lupski, Grzegorz Ira. Science 2015
125
9

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
9

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman,[...]. PLoS Genet 2015
41
17

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto,[...]. Nat Genet 2006
819
9

DELLY: structural variant discovery by integrated paired-end and split-read analysis.
Tobias Rausch, Thomas Zichner, Andreas Schlattl, Adrian M Stütz, Vladimir Benes, Jan O Korbel. Bioinformatics 2012
861
9

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
528
9

Resolving the complexity of the human genome using single-molecule sequencing.
Mark J P Chaisson, John Huddleston, Megan Y Dennis, Peter H Sudmant, Maika Malig, Fereydoun Hormozdiari, Francesca Antonacci, Urvashi Surti, Richard Sandstrom, Matthew Boitano,[...]. Nature 2015
393
9

Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast.
Daniel C Jeffares, Clemency Jolly, Mimoza Hoti, Doug Speed, Liam Shaw, Charalampos Rallis, Francois Balloux, Christophe Dessimoz, Jürg Bähler, Fritz J Sedlazeck. Nat Commun 2017
134
9

Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins,[...]. Nat Commun 2019
247
9

Clan genomics and the complex architecture of human disease.
James R Lupski, John W Belmont, Eric Boerwinkle, Richard A Gibbs. Cell 2011
229
8

A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men.
Melanie Lacaria, Pradip Saha, Lorraine Potocki, Weimin Bi, Jiong Yan, Santhosh Girirajan, Brooke Burns, Sarah Elsea, Katherina Walz, Lawrence Chan,[...]. PLoS Genet 2012
31
19

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
351
8

Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.
Feng Zhang, Lorraine Potocki, Jacinda B Sampson, Pengfei Liu, Amarilis Sanchez-Valle, Patricia Robbins-Furman, Alicia Delicado Navarro, Patricia G Wheeler, J Edward Spence, Campbell K Brasington,[...]. Am J Hum Genet 2010
67
8

DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
J R Lupski, R M de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, B J Trask, O Saucedo-Cardenas, D F Barker, J M Killian, C A Garcia,[...]. Cell 1991
8

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.
Ian M Campbell, Bo Yuan, Caroline Robberecht, Rolph Pfundt, Przemyslaw Szafranski, Meriel E McEntagart, Sandesh C S Nagamani, Ayelet Erez, Magdalena Bartnik, Barbara Wiśniowiecka-Kowalnik,[...]. Am J Hum Genet 2014
145
8

Initial sequencing and analysis of the human genome.
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
8

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
Philip M Boone, Pengfei Liu, Feng Zhang, Claudia M B Carvalho, Charles F Towne, Sat Dev Batish, James R Lupski. Genet Med 2011
40
15


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.