A citation-based method for searching scientific literature

Philip M Boone, Ian M Campbell, Brett C Baggett, Zachry T Soens, Mitchell M Rao, Patricia M Hixson, Ankita Patel, Weimin Bi, Sau Wai Cheung, Seema R Lalani, Arthur L Beaudet, Pawel Stankiewicz, Chad A Shaw, James R Lupski. Genome Res 2013
Times Cited: 47







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



Times Cited
  Times     Co-cited
Similarity


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
27

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
25

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
25

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
25

Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
182
25

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
792
25

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
21

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
21

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
670
19

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
17

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
17

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
79
17

Detection of clinically relevant copy number variants with whole-exome sequencing.
Joep de Ligt, Philip M Boone, Rolph Pfundt, Lisenka E L M Vissers, Todd Richmond, Joel Geoghegan, Kathleen O'Moore, Nicole de Leeuw, Christine Shaw, Han G Brunner,[...]. Hum Mutat 2013
78
17

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
James R Lupski, Claudia Gonzaga-Jauregui, Yaping Yang, Matthew N Bainbridge, Shalini Jhangiani, Christian J Buhay, Christie L Kovar, Min Wang, Alicia C Hawes, Jeffrey G Reid,[...]. Genome Med 2013
113
17

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
268
17

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
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,[...]. Genome Res 2013
77
14

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
14

Towards a comprehensive structural variation map of an individual human genome.
Andy W Pang, Jeffrey R MacDonald, Dalila Pinto, John Wei, Muhammad A Rafiq, Donald F Conrad, Hansoo Park, Matthew E Hurles, Charles Lee, J Craig Venter,[...]. Genome Biol 2010
178
14

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
145
14

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
344
14

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
251
12

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
353
12

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
295
12


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
12

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
12

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
12

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
632
12

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
D K Bayer, C A Martinez, H S Sorte, L R Forbes, G J Demmler-Harrison, I C Hanson, N M Pearson, L M Noroski, S R Zaki, W J Bellini,[...]. Clin Exp Immunol 2014
36
16

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
59
12

Exome sequencing and whole genome sequencing for the detection of copy number variation.
Jayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman. Expert Rev Mol Diagn 2015
42
14

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
10

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
408
10

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.
Menachem Fromer, Jennifer L Moran, Kimberly Chambert, Eric Banks, Sarah E Bergen, Douglas M Ruderfer, Robert E Handsaker, Steven A McCarroll, Michael C O'Donovan, Michael J Owen,[...]. Am J Hum Genet 2012
331
10

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
James R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, David Rio Deiros, David C Y Chen, Lynne Nazareth, Matthew Bainbridge, Huyen Dinh, Chyn Jing, David A Wheeler,[...]. N Engl J Med 2010
519
10

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
10

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities.
Matthew N Bainbridge, Min Wang, Yuanqing Wu, Irene Newsham, Donna M Muzny, John L Jefferies, Thomas J Albert, Daniel L Burgess, Richard A Gibbs. Genome Biol 2011
144
10


Whole-genome sequencing for optimized patient management.
Matthew N Bainbridge, Wojciech Wiszniewski, David R Murdock, Jennifer Friedman, Claudia Gonzaga-Jauregui, Irene Newsham, Jeffrey G Reid, John K Fink, Margaret B Morgan, Marie-Claude Gingras,[...]. Sci Transl Med 2011
176
10

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
10

Human genome sequencing in health and disease.
Claudia Gonzaga-Jauregui, James R Lupski, Richard A Gibbs. Annu Rev Med 2012
255
10

The complete genome of an individual by massively parallel DNA sequencing.
David A Wheeler, Maithreyan Srinivasan, Michael Egholm, Yufeng Shen, Lei Chen, Amy McGuire, Wen He, Yi-Ju Chen, Vinod Makhijani, G Thomas Roth,[...]. Nature 2008
10


Genomic disorders ten years on.
James R Lupski. Genome Med 2009
107
10


Clan genomics and the complex architecture of human disease.
James R Lupski, John W Belmont, Eric Boerwinkle, Richard A Gibbs. Cell 2011
222
10



Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini,[...]. Am J Hum Genet 2016
39
12

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


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.