A citation-based method for searching scientific literature

Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato, Michael Y Divon, Lisa Ximena Rodríguez Rojas, Lindsay E Elton, Daryl A Scott, Christian P Schaaf, Wilfredo Torres-Martinez, Abby K Stevens, Jill A Rosenfeld, Satish Agadi, David Francis, Sung-Hae L Kang, Amy Breman, Seema R Lalani, Carlos A Bacino, Weimin Bi, Aleksandar Milosavljevic, Arthur L Beaudet, Ankita Patel, Chad A Shaw, James R Lupski, Anna Gambin, Sau Wai Cheung, Pawel Stankiewicz. Genome Res 2013
Times Cited: 78







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



Times Cited
  Times     Co-cited
Similarity



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

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
811
8

An integrated map of genetic variation from 1,092 human genomes.
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
8

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai,[...]. Eur J Hum Genet 2014
80
8

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
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
8

Genome destabilization by homologous recombination in the germ line.
Mariko Sasaki, Julian Lange, Scott Keeney. Nat Rev Mol Cell Biol 2010
140
8

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.
Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M Breman, Brian Dawson, Joanna Wiszniewska, Przemyslaw Szafranski, M Lance Cooper, Mitchell Rao, Lina Shao,[...]. Genome Res 2011
56
12


Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D Beckmann,[...]. Nature 2011
266
8

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
809
8

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
150
8

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

DNA recombination. Recombination initiation maps of individual human genomes.
Florencia Pratto, Kevin Brick, Pavel Khil, Fatima Smagulova, Galina V Petukhova, R Daniel Camerini-Otero. Science 2014
153
8

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
123
8

Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses.
C Sun, H Skaletsky, S Rozen, J Gromoll, E Nieschlag, R Oates, D C Page. Hum Mol Genet 2000
174
7

A recurrent translocation is mediated by homologous recombination between HERV-H elements.
Karen E Hermetz, Urvashi Surti, Jannine D Cody, M Katharine Rudd. Mol Cytogenet 2012
14
42

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
66
9

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
251
7


Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A J Weterman, Claudia Gonzaga-Jauregui, Charles F Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss,[...]. Am J Hum Genet 2010
90
7

Clan genomics and the complex architecture of human disease.
James R Lupski, John W Belmont, Eric Boerwinkle, Richard A Gibbs. Cell 2011
227
7

Prdm9 controls activation of mammalian recombination hotspots.
Emil D Parvanov, Petko M Petkov, Kenneth Paigen. Science 2010
358
7

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
7

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.
Thomas De Raedt, Matthew Stephens, Ine Heyns, Hilde Brems, Daisy Thijs, Ludwine Messiaen, Karen Stephens, Conxi Lazaro, Katharina Wimmer, Hildegard Kehrer-Sawatzki,[...]. Nat Genet 2006
67
8

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
697
7

Increased genome instability in human DNA segments with self-chains: homology-induced structural variations via replicative mechanisms.
Weichen Zhou, Feng Zhang, Xiaoli Chen, Yiping Shen, James R Lupski, Li Jin. Hum Mol Genet 2013
15
40

A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
Jeffrey M Kidd, Tina Graves, Tera L Newman, Robert Fulton, Hillary S Hayden, Maika Malig, Joelle Kallicki, Rajinder Kaul, Richard K Wilson, Evan E Eichler. Cell 2010
189
7


Genomic disorders ten years on.
James R Lupski. Genome Med 2009
108
7


Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications.
Douglas F Levinson, Jubao Duan, Sang Oh, Kai Wang, Alan R Sanders, Jianxin Shi, Nancy Zhang, Bryan J Mowry, Ann Olincy, Farooq Amin,[...]. Am J Psychiatry 2011
316
7

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
Michał Startek, Przemyslaw Szafranski, Tomasz Gambin, Ian M Campbell, Patricia Hixson, Chad A Shaw, Paweł Stankiewicz, Anna Gambin. Nucleic Acids Res 2015
45
13

Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population.
Anna Fry, Thomas J Littlejohns, Cathie Sudlow, Nicola Doherty, Ligia Adamska, Tim Sprosen, Rory Collins, Naomi E Allen. Am J Epidemiol 2017
652
7


Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Sau W Cheung, Chad A Shaw, Wei Yu, Jiangzham Li, Zhishuo Ou, Ankita Patel, Svetlana A Yatsenko, Mitchell L Cooper, Patti Furman, Pawel Stankiewicz,[...]. Genet Med 2005
200
6

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo,[...]. PLoS Genet 2011
208
6

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
6

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
69
7


Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, Weimin Bi, Claudia M B Carvalho, Alexandra D Simmons, Joanna Wiszniewska, Ping Fang, Patricia A Eng, M Lance Cooper,[...]. Hum Mol Genet 2011
56
8

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
17

Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination.
Simon Myers, Rory Bowden, Afidalina Tumian, Ronald E Bontrop, Colin Freeman, Tammie S MacFie, Gil McVean, Peter Donnelly. Science 2010
408
6

Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17.
P F Chance, N Abbas, M W Lensch, L Pentao, B B Roa, P I Patel, J R Lupski. Hum Mol Genet 1994
259
6

Recombination hotspot in NF1 microdeletion patients.
C López-Correa, M Dorschner, H Brems, C Lázaro, M Clementi, M Upadhyaya, D Dooijes, U Moog, H Kehrer-Sawatzki, J L Rutkowski,[...]. Hum Mol Genet 2001
138
6

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.
Kathrin Bengesser, Julia Vogt, Tanja Mussotter, Victor-Felix Mautner, Ludwine Messiaen, David N Cooper, Hildegard Kehrer-Sawatzki. Hum Mutat 2014
15
33

DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Laura J Dumas, Majesta S O'Bleness, Jonathan M Davis, C Michael Dickens, Nathan Anderson, J G Keeney, Jay Jackson, Megan Sikela, Armin Raznahan, Jay Giedd,[...]. Am J Hum Genet 2012
69
7

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
39
12

Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delays.
Andrey Shuvarikov, Ian M Campbell, Piotr Dittwald, Nicholas J Neill, Martin G Bialer, Christine Moore, Patricia G Wheeler, Stephanie E Wallace, Mark C Hannibal, Michael F Murray,[...]. Hum Mutat 2013
29
17


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.