A citation-based method for searching scientific literature

Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi, Lisa A Cannon-Albright, Craig C Teerlink, Janet L Stanford, William B Isaacs, Jianfeng Xu, Kathleen A Cooney, Ethan M Lange, Johanna Schleutker, John D Carpten, Isaac J Powell, Olivier Cussenot, Geraldine Cancel-Tassin, Graham G Giles, Robert J MacInnis, Christiane Maier, Chih-Lin Hsieh, Fredrik Wiklund, William J Catalona, William D Foulkes, Diptasri Mandal, Rosalind A Eeles, Zsofia Kote-Jarai, Carlos D Bustamante, Daniel J Schaid, Trevor Hastie, Elaine A Ostrander, Joan E Bailey-Wilson, Predrag Radivojac, Stephen N Thibodeau, Alice S Whittemore, Weiva Sieh. Am J Hum Genet 2016
Times Cited: 518

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

Times Cited
  Times     Co-cited

Identifying novel constrained elements by exploiting biased substitution patterns.
Manuel Garber, Mitchell Guttman, Michele Clamp, Michael C Zody, Nir Friedman, Xiaohui Xie. Bioinformatics 2009

International network of cancer genome projects.
Thomas J Hudson, Warwick Anderson, Axel Artez, Anna D Barker, Cindy Bell, Rosa R Bernabé, M K Bhan, Fabien Calvo, Iiro Eerola, Daniela S Gerhard,[...]. Nature 2010

Using SIFT and PolyPhen to predict loss-of-function and gain-of-function mutations.
Sarah E Flanagan, Ann-Marie Patch, Sian Ellard. Genet Test Mol Biomarkers 2010

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015

Toward mechanistic models for genotype-phenotype correlations in phenylketonuria using protein stability calculations.
Rasmus Scheller, Amelie Stein, Sofie V Nielsen, Frederikke I Marin, Anne-Marie Gerdes, Miriam Di Marco, Elena Papaleo, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen. Hum Mutat 2019

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update.
Maxim V Kuleshov, Matthew R Jones, Andrew D Rouillard, Nicolas F Fernandez, Qiaonan Duan, Zichen Wang, Simon Koplev, Sherry L Jenkins, Kathleen M Jagodnik, Alexander Lachmann,[...]. Nucleic Acids Res 2016

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

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.
Joshua C Denny, Lisa Bastarache, Marylyn D Ritchie, Robert J Carroll, Raquel Zink, Jonathan D Mosley, Julie R Field, Jill M Pulley, Andrea H Ramirez, Erica Bowton,[...]. Nat Biotechnol 2013

Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia.
Qin Wang, Panfeng Wang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Xiangming Guo, Qing-Peng Kong, Yong-Gang Yao, Qingjiong Zhang. Mol Vis 2010

Evaluation of 12 myopia-associated genes in Chinese patients with high myopia.
Jiali Li, Dan Jiang, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Xiangming Guo, Qingjiong Zhang. Invest Ophthalmol Vis Sci 2015

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
David J Carey, Samantha N Fetterolf, F Daniel Davis, William A Faucett, H Lester Kirchner, Uyenlinh Mirshahi, Michael F Murray, Diane T Smelser, Glenn S Gerhard, David H Ledbetter. Genet Med 2016

Multiplex assessment of protein variant abundance by massively parallel sequencing.
Kenneth A Matreyek, Lea M Starita, Jason J Stephany, Beth Martin, Melissa A Chiasson, Vanessa E Gray, Martin Kircher, Arineh Khechaduri, Jennifer N Dines, Ronald J Hause,[...]. Nat Genet 2018

Massively parallel variant characterization identifies NUDT15 alleles associated with thiopurine toxicity.
Chase C Suiter, Takaya Moriyama, Kenneth A Matreyek, Wentao Yang, Emma Rose Scaletti, Rina Nishii, Wenjian Yang, Keito Hoshitsuki, Minu Singh, Amita Trehan,[...]. Proc Natl Acad Sci U S A 2020

DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution.
Rachel Rosenthal, Nicholas McGranahan, Javier Herrero, Barry S Taylor, Charles Swanton. Genome Biol 2016

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

Ensembl 2020.
Andrew D Yates, Premanand Achuthan, Wasiu Akanni, James Allen, Jamie Allen, Jorge Alvarez-Jarreta, M Ridwan Amode, Irina M Armean, Andrey G Azov, Ruth Bennett,[...]. Nucleic Acids Res 2020

Pooled association tests for rare variants in exon-resequencing studies.
Alkes L Price, Gregory V Kryukov, Paul I W de Bakker, Shaun M Purcell, Jeff Staples, Lee-Jen Wei, Shamil R Sunyaev. Am J Hum Genet 2010

A genome-first approach to aggregating rare genetic variants in LMNA for association with electronic health record phenotypes.
Joseph Park, Michael G Levin, Christopher M Haggerty, Dustin N Hartzel, Renae Judy, Rachel L Kember, Nosheen Reza, Marylyn D Ritchie, Anjali T Owens, Scott M Damrauer,[...]. Genet Med 2020

Using high-resolution variant frequencies to empower clinical genome interpretation.
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur,[...]. Genet Med 2017

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018

Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation.
Nuala A O'Leary, Mathew W Wright, J Rodney Brister, Stacy Ciufo, Diana Haddad, Rich McVeigh, Bhanu Rajput, Barbara Robbertse, Brian Smith-White, Danso Ako-Adjei,[...]. Nucleic Acids Res 2016

Robust relationship inference in genome-wide association studies.
Ani Manichaikul, Josyf C Mychaleckyj, Stephen S Rich, Kathy Daly, Michèle Sale, Wei-Min Chen. Bioinformatics 2010

Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up.
Blanche P Alter, Neelam Giri, Sharon A Savage, Philip S Rosenberg. Haematologica 2018

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012

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

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
Eric Talevich, A Hunter Shain, Thomas Botton, Boris C Bastian. PLoS Comput Biol 2016

Strelka2: fast and accurate calling of germline and somatic variants.
Sangtae Kim, Konrad Scheffler, Aaron L Halpern, Mitchell A Bekritsky, Eunho Noh, Morten Källberg, Xiaoyu Chen, Yeonbin Kim, Doruk Beyter, Peter Krusche,[...]. Nat Methods 2018

The Catalogue of Somatic Mutations in Cancer (COSMIC).
S A Forbes, G Bhamra, S Bamford, E Dawson, C Kok, J Clements, A Menzies, J W Teague, P A Futreal, M R Stratton. Curr Protoc Hum Genet 2008

The ExAC browser: displaying reference data information from over 60 000 exomes.
Konrad J Karczewski, Ben Weisburd, Brett Thomas, Matthew Solomonson, Douglas M Ruderfer, David Kavanagh, Tymor Hamamsy, Monkol Lek, Kaitlin E Samocha, Beryl B Cummings,[...]. Nucleic Acids Res 2017

Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift.
Pablo Cingolani, Viral M Patel, Melissa Coon, Tung Nguyen, Susan J Land, Douglas M Ruden, Xiangyi Lu. Front Genet 2012

Fast gapped-read alignment with Bowtie 2.
Ben Langmead, Steven L Salzberg. Nat Methods 2012

Kaviar: an accessible system for testing SNV novelty.
Gustavo Glusman, Juan Caballero, Denise E Mauldin, Leroy Hood, Jared C Roach. Bioinformatics 2011

BAM-matcher: a tool for rapid NGS sample matching.
Paul P S Wang, Wendy T Parker, Susan Branford, Andreas W Schreiber. Bioinformatics 2016

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Jason Homsy, Samir Zaidi, Yufeng Shen, James S Ware, Kaitlin E Samocha, Konrad J Karczewski, Steven R DePalma, David McKean, Hiroko Wakimoto, Josh Gorham,[...]. Science 2015

Distinct epigenomic patterns are associated with haploinsufficiency and predict risk genes of developmental disorders.
Xinwei Han, Siying Chen, Elise Flynn, Shuang Wu, Dana Wintner, Yufeng Shen. Nat Commun 2018

A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,[...]. Nat Genet 2014

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
Xin He, Stephan J Sanders, Li Liu, Silvia De Rubeis, Elaine T Lim, James S Sutcliffe, Gerard D Schellenberg, Richard A Gibbs, Mark J Daly, Joseph D Buxbaum,[...]. PLoS Genet 2013

HuVarBase: A human variant database with comprehensive information at gene and protein levels.
Kaliappan Ganesan, A Kulandaisamy, S Binny Priya, M Michael Gromiha. PLoS One 2019

Mutations in dopachrome tautomerase (Dct) affect eumelanin/pheomelanin synthesis, but do not affect intracellular trafficking of the mutant protein.
Gertrude-E Costin, Julio C Valencia, Kazumasa Wakamatsu, Shosuke Ito, Francisco Solano, Adina L Milac, Wilfred D Vieira, Yuji Yamaguchi, François Rouzaud, Andrei-J Petrescu,[...]. Biochem J 2005

Mutation effects predicted from sequence co-variation.
Thomas A Hopf, John B Ingraham, Frank J Poelwijk, Charlotta P I Schärfe, Michael Springer, Chris Sander, Debora S Marks. Nat Biotechnol 2017

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.