A citation-based method for searching scientific literature

Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V Ball, Matthew Mort, Andrew D Phillips, Katy Shaw, Peter D Stenson, David N Cooper, Chris Tyler-Smith. Am J Hum Genet 2012
Times Cited: 182







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



Times Cited
  Times     Co-cited
Similarity


Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
35

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
33

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
27

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
21

Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
767
21

Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, Shannon L Hateley, Elena E Ganusova, Joann Mudge, Ray J Langley, Lu Zhang, Clarence C Lee, Faye D Schilkey,[...]. Sci Transl Med 2011
430
19

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
18

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
16

A systematic survey of loss-of-function variants in human protein-coding genes.
Daniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K Pickrell, Stephen B Montgomery,[...]. Science 2012
751
16

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
16

Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett,[...]. Am J Hum Genet 2013
268
16

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
15


ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
14


Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
215
13

A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
12

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Wenqing Fu, Timothy D O'Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, David Altshuler, Jay Shendure,[...]. Nature 2013
612
12

ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
482
11

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
Holly K Tabor, Paul L Auer, Seema M Jamal, Jessica X Chong, Joon-Ho Yu, Adam S Gordon, Timothy A Graubert, Christopher J O'Donnell, Stephen S Rich, Deborah A Nickerson,[...]. Am J Hum Genet 2014
64
15

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
David N Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki. Hum Genet 2013
302
10

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
10

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
10

Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
848
9

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
9

Proportionally more deleterious genetic variation in European than in African populations.
Kirk E Lohmueller, Amit R Indap, Steffen Schmidt, Adam R Boyko, Ryan D Hernandez, Melissa J Hubisz, John J Sninsky, Thomas J White, Shamil R Sunyaev, Rasmus Nielsen,[...]. Nature 2008
252
9

Identification of a large set of rare complete human knockouts.
Patrick Sulem, Hannes Helgason, Asmundur Oddson, Hreinn Stefansson, Sigurjon A Gudjonsson, Florian Zink, Eirikur Hjartarson, Gunnar Th Sigurdsson, Adalbjorg Jonasdottir, Aslaug Jonasdottir,[...]. Nat Genet 2015
142
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

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
8

SIFT: Predicting amino acid changes that affect protein function.
Pauline C Ng, Steven Henikoff. Nucleic Acids Res 2003
8

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
799
8

Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.
Nadine Norton, Peggy D Robertson, Mark J Rieder, Stephan Züchner, Evadnie Rampersaud, Eden Martin, Duanxiang Li, Deborah A Nickerson, Ray E Hershberger. Circ Cardiovasc Genet 2012
98
7

dbSNP: the NCBI database of genetic variation.
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
7

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
7

Clinical interpretation and implications of whole-genome sequencing.
Frederick E Dewey, Megan E Grove, Cuiping Pan, Benjamin A Goldstein, Jonathan A Bernstein, Hassan Chaib, Jason D Merker, Rachel L Goldfeder, Gregory M Enns, Sean P David,[...]. JAMA 2014
285
7

Predicting the functional effect of amino acid substitutions and indels.
Yongwook Choi, Gregory E Sims, Sean Murphy, Jason R Miller, Agnes P Chan. PLoS One 2012
7

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
7

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
6

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.
Pablo Cingolani, Adrian Platts, Le Lily Wang, Melissa Coon, Tung Nguyen, Luan Wang, Susan J Land, Xiangyi Lu, Douglas M Ruden. Fly (Austin) 2012
6

MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
6

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
6

Human Gene Mutation Database (HGMD): 2003 update.
Peter D Stenson, Edward V Ball, Matthew Mort, Andrew D Phillips, Jacqueline A Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, David N Cooper. Hum Mutat 2003
6

Rate of de novo mutations and the importance of father's age to disease risk.
Augustine Kong, Michael L Frigge, Gisli Masson, Soren Besenbacher, Patrick Sulem, Gisli Magnusson, Sigurjon A Gudjonsson, Asgeir Sigurdsson, Aslaug Jonasdottir, Adalbjorg Jonasdottir,[...]. Nature 2012
6

Disease gene identification strategies for exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Eur J Hum Genet 2012
273
6

Distribution and intensity of constraint in mammalian genomic sequence.
Gregory M Cooper, Eric A Stone, George Asimenos, Eric D Green, Serafim Batzoglou, Arend Sidow. Genome Res 2005
849
6

The deleterious mutation load is insensitive to recent population history.
Yuval B Simons, Michael C Turchin, Jonathan K Pritchard, Guy Sella. Nat Genet 2014
149
6

Estimating the mutation load in human genomes.
Brenna M Henn, Laura R Botigué, Carlos D Bustamante, Andrew G Clark, Simon Gravel. Nat Rev Genet 2015
116
6

Predicting functional effect of human missense mutations using PolyPhen-2.
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
6



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.