A citation-based method for searching scientific literature

L R Osborne, M Li, B Pober, D Chitayat, J Bodurtha, A Mandel, T Costa, T Grebe, S Cox, L C Tsui, S W Scherer. Nat Genet 2001
Times Cited: 217







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



Times Cited
  Times     Co-cited
Similarity


Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, Silvia Russo, Daniela Giardino, Lidia Larizza, Joseph Cheung, Lluís Armengol, Albert Schinzel, Xavier Estivill,[...]. Hum Mol Genet 2003
94
42

Mutational mechanisms of Williams-Beuren syndrome deletions.
Mònica Bayés, Luis F Magano, Núria Rivera, Raquel Flores, Luis A Pérez Jurado. Am J Hum Genet 2003
238
32

Characterization of six human disease-associated inversion polymorphisms.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E Eichler. Hum Mol Genet 2009
81
38

Mapping and sequencing of structural variation from eight human genomes.
Jeffrey M Kidd, Gregory M Cooper, William F Donahue, Hillary S Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci,[...]. Nature 2008
765
28

Fine-scale structural variation of the human genome.
Eray Tuzun, Andrew J Sharp, Jeffrey A Bailey, Rajinder Kaul, V Anne Morrison, Lisa M Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel,[...]. Nat Genet 2005
713
26

A common inversion under selection in Europeans.
Hreinn Stefansson, Agnar Helgason, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Gisli Masson, John Barnard, Adam Baker, Aslaug Jonasdottir, Andres Ingason, Vala G Gudnadottir,[...]. Nat Genet 2005
530
26

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
25

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
David A Koolen, Lisenka E L M Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J L Knight, Regina Regan, R Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera,[...]. Nat Genet 2006
299
25

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion.
Ivon Cuscó, Roser Corominas, Mònica Bayés, Raquel Flores, Núria Rivera-Brugués, Victoria Campuzano, Luis A Pérez-Jurado. Genome Res 2008
54
46


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
22

Evolutionary toggling of the MAPT 17q21.31 inversion region.
Michael C Zody, Zhaoshi Jiang, Hon-Chung Fung, Francesca Antonacci, LaDeana W Hillier, Maria Francesca Cardone, Tina A Graves, Jeffrey M Kidd, Ze Cheng, Amr Abouelleil,[...]. Nat Genet 2008
119
22

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Andrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan, Jane A Hurst, Helen Stewart, Sue M Price, Edward Blair, Raoul C Hennekam,[...]. Nat Genet 2006
429
21

Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Martin J Somerville, Carolyn B Mervis, Edwin J Young, Eul-Ju Seo, Miguel del Campo, Stephen Bamforth, Ella Peregrine, Wayne Loo, Margaret Lilley, Luis A Pérez-Jurado,[...]. N Engl J Med 2005
203
20

Segmental duplications and copy-number variation in the human genome.
Andrew J Sharp, Devin P Locke, Sean D McGrath, Ze Cheng, Jeffrey A Bailey, Rhea U Vallente, Lisa M Pertz, Royden A Clark, Stuart Schwartz, Rick Segraves,[...]. Am J Hum Genet 2005
661
20

Recent segmental duplications in the human genome.
Jeffrey A Bailey, Zhiping Gu, Royden A Clark, Knut Reinert, Rhea V Samonte, Stuart Schwartz, Mark D Adams, Eugene W Myers, Peter W Li, Evan E Eichler. Science 2002
930
20

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.
A K Ewart, C A Morris, D Atkinson, W Jin, K Sternes, P Spallone, A D Stock, M Leppert, M T Keating. Nat Genet 1993
760
20

Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion.
Remco Visser, Osamu Shimokawa, Naoki Harada, Akira Kinoshita, Tohru Ohta, Norio Niikawa, Naomichi Matsumoto. Am J Hum Genet 2005
98
19

Prevalence estimation of Williams syndrome.
Petter Strømme, Per G Bjørnstad, Kjersti Ramstad. J Child Neurol 2002
420
19


Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
Holly H Hobart, Colleen A Morris, Carolyn B Mervis, Ariel M Pani, Doris J Kistler, Cecilia M Rios, Kendra W Kimberley, Ronald G Gregg, Patricia Bray-Ward. Am J Med Genet C Semin Med Genet 2010
28
67

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
S Giglio, K W Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, H Ohashi, L Voullaire, D Larizza, R Giorda,[...]. Am J Hum Genet 2001
269
18

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
762
17

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
16

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Andrew J Sharp, Heather C Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E Stevenson, Richard J Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone,[...]. Nat Genet 2008
403
16

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
15

Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Stephen W Scherer, Karen W Gripp, Jaume Lucena, Linda Nicholson, Jean-Paul Bonnefont, Luis A Pérez-Jurado, Lucy R Osborne. Hum Genet 2005
21
71

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A.
D Lakich, H H Kazazian, S E Antonarakis, J Gitschier. Nat Genet 1993
628
15

Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation.
Sabrina Giglio, Vladimiro Calvari, Giuliana Gregato, Giorgio Gimelli, Silvia Camanini, Roberto Giorda, Angela Ragusa, Silvana Guerneri, Angelo Selicorni, Marcus Stumm,[...]. Am J Hum Genet 2002
151
15

Genome architecture, rearrangements and genomic disorders.
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
626
14

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Charles Shaw-Smith, Alan M Pittman, Lionel Willatt, Howard Martin, Lisa Rickman, Susan Gribble, Rebecca Curley, Sally Cumming, Carolyn Dunn, Dimitrios Kalaitzopoulos,[...]. Nat Genet 2006
256
14

The common inversion of the Williams-Beuren syndrome region at 7q11.23 does not cause clinical symptoms.
Elaine Tam, Edwin J Young, Colleen A Morris, Christian R Marshall, Wayne Loo, Stephen W Scherer, Carolyn B Mervis, Lucy R Osborne. Am J Med Genet A 2008
20
70

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.
Lars Feuk, Jeffrey R MacDonald, Terence Tang, Andrew R Carson, Martin Li, Girish Rao, Razi Khaja, Stephen W Scherer. PLoS Genet 2005
112
14

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Brian Teague, Mario Ventura, Santhosh Girirajan, Can Alkan, Catarina D Campbell, Laura Vives, Maika Malig,[...]. Nat Genet 2010
67
20

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders.
Daniel J Turner, Marcos Miretti, Diana Rajan, Heike Fiegler, Nigel P Carter, Martyn L Blayney, Stephan Beck, Matthew E Hurles. Nat Genet 2008
212
13

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region.
Colleen A Morris, Carolyn B Mervis, Holly H Hobart, Ronald G Gregg, Jacquelyn Bertrand, Gregory J Ensing, Annemarie Sommer, Cynthia A Moore, Robert J Hopkin, Patricia A Spallone,[...]. Am J Med Genet A 2003
114
13

Evidence for large inversion polymorphisms in the human genome from HapMap data.
Vikas Bansal, Ali Bashir, Vineet Bafna. Genome Res 2007
49
26

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
803
13

A high-resolution survey of deletion polymorphism in the human genome.
Donald F Conrad, T Daniel Andrews, Nigel P Carter, Matthew E Hurles, Jonathan K Pritchard. Nat Genet 2006
472
12

Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
Miguel Del Campo, Anna Antonell, Luis F Magano, Francisco J Muñoz, Raquel Flores, Mònica Bayés, Luis A Pérez Jurado. Am J Hum Genet 2006
70
17

Supravalvular aortic stenosis.
J C WILLIAMS, B G BARRATT-BOYES, J B LOWE. Circulation 1961
699
12

Segmental duplications: organization and impact within the current human genome project assembly.
J A Bailey, A M Yavor, H F Massa, B J Trask, E E Eichler. Genome Res 2001
474
12


Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
670
12


Molecular mechanisms for genomic disorders.
Ken Inoue, James R Lupski. Annu Rev Genomics Hum Genet 2002
221
11

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
11

GTF2IRD1 in craniofacial development of humans and mice.
May Tassabehji, Peter Hammond, Annette Karmiloff-Smith, Pamela Thompson, Snorri S Thorgeirsson, Marian E Durkin, Nicholas C Popescu, Timothy Hutton, Kay Metcalfe, Agnes Rucka,[...]. Science 2005
144
11

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
698
11

Common deletion polymorphisms in the human genome.
Steven A McCarroll, Tracy N Hadnott, George H Perry, Pardis C Sabeti, Michael C Zody, Jeffrey C Barrett, Stephanie Dallaire, Stacey B Gabriel, Charles Lee, Mark J Daly,[...]. Nat Genet 2006
525
10


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.