A citation-based method for searching scientific literature

Sophia Cameron-Christie, Charles J Wolock, Emily Groopman, Slavé Petrovski, Sitharthan Kamalakaran, Gundula Povysil, Dimitrios Vitsios, Mengqi Zhang, Jan Fleckner, Ruth E March, Sahar Gelfman, Maddalena Marasa, Yifu Li, Simone Sanna-Cherchi, Krzysztof Kiryluk, Andrew S Allen, Bengt C Fellström, Carolina Haefliger, Adam Platt, David B Goldstein, Ali G Gharavi. J Am Soc Nephrol 2019
Times Cited: 13







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



Times Cited
  Times     Co-cited
Similarity


An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis.
Slavé Petrovski, Jamie L Todd, Michael T Durheim, Quanli Wang, Jason W Chien, Fran L Kelly, Courtney Frankel, Caroline M Mebane, Zhong Ren, Joshua Bridgers,[...]. Am J Respir Crit Care Med 2017
93
46

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Elizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, Peter C Sapp, Patrick A Dion, Claire S Leblond, Julien Couthouis, Yi-Fan Lu, Quanli Wang, Brian J Krueger,[...]. Science 2015
556
38

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
38

Diagnostic Utility of Exome Sequencing for Kidney Disease.
Emily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, Slavé Petrovski, Vimla S Aggarwal, Hila Milo-Rasouly, Yifu Li, Junying Zhang, Jordan Nestor, Priya Krithivasan,[...]. N Engl J Med 2019
144
38

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
38

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
38


Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slavé Petrovski. Genome Res 2017
71
30

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS.
Sahar Gelfman, Sarah Dugger, Cristiane de Araujo Martins Moreno, Zhong Ren, Charles J Wolock, Neil A Shneider, Hemali Phatnani, Elizabeth T Cirulli, Brittany N Lasseigne, Tim Harris,[...]. Genome Res 2019
7
57

Rare-variant collapsing analyses for complex traits: guidelines and applications.
Gundula Povysil, Slavé Petrovski, Joseph Hostyk, Vimla Aggarwal, Andrew S Allen, David B Goldstein. Nat Rev Genet 2019
34
30

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
815
30

The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes.
Ayal B Gussow, Slavé Petrovski, Quanli Wang, Andrew S Allen, David B Goldstein. Genome Biol 2016
69
23

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.
Tristan J Hayeck, Nicholas Stong, Charles J Wolock, Brett Copeland, Sitharthan Kamalakaran, David B Goldstein, Andrew S Allen. Am J Hum Genet 2019
11
27

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
488
23

A map of constrained coding regions in the human genome.
James M Havrilla, Brent S Pedersen, Ryan M Layer, Aaron R Quinlan. Nat Genet 2019
72
23


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
23

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
855
23

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
23

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
23

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
182
15

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence.
Giulio Genovese, Anna K Kähler, Robert E Handsaker, Johan Lindberg, Samuel A Rose, Samuel F Bakhoum, Kimberly Chambert, Eran Mick, Benjamin M Neale, Menachem Fromer,[...]. N Engl J Med 2014
15

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui,[...]. Science 2016
260
15


Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk,[...]. Am J Hum Genet 2017
31
15

Whole-exome sequencing in 20,197 persons for rare variants in Alzheimer's disease.
Neha S Raghavan, Adam M Brickman, Howard Andrews, Jennifer J Manly, Nicole Schupf, Rafael Lantigua, Charles J Wolock, Sitharthan Kamalakaran, Slave Petrovski, Giuseppe Tosto,[...]. Ann Clin Transl Neurol 2018
33
15


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
15

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
15

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity.
Slavé Petrovski, Ayal B Gussow, Quanli Wang, Matt Halvorsen, Yujun Han, William H Weir, Andrew S Allen, David B Goldstein. PLoS Genet 2015
68
15

Annotating pathogenic non-coding variants in genic regions.
Sahar Gelfman, Quanli Wang, K Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L Heinzen, Michael J Boland,[...]. Nat Commun 2017
47
15

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Richard D Bagnall, Douglas E Crompton, Slavé Petrovski, Lien Lam, Carina Cutmore, Sarah I Garry, Lynette G Sadleir, Leanne M Dibbens, Anita Cairns, Sara Kivity,[...]. Ann Neurol 2016
121
15

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.
Yi-Juan Hu, Peizhou Liao, H Richard Johnston, Andrew S Allen, Glen A Satten. PLoS Genet 2016
17
15

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
276
15

The UK Biobank resource with deep phenotyping and genomic data.
Clare Bycroft, Colin Freeman, Desislava Petkova, Gavin Band, Lloyd T Elliott, Kevin Sharp, Allan Motyer, Damjan Vukcevic, Olivier Delaneau, Jared O'Connell,[...]. Nature 2018
15

Predicting the clinical impact of human mutation with deep neural networks.
Laksshman Sundaram, Hong Gao, Samskruthi Reddy Padigepati, Jeremy F McRae, Yanjun Li, Jack A Kosmicki, Nondas Fritzilas, Jörg Hakenberg, Anindita Dutta, John Shon,[...]. Nat Genet 2018
85
15

Genic intolerance to functional variation and the interpretation of personal genomes.
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
561
15

Proteomics. Tissue-based map of the human proteome.
Mathias Uhlén, Linn Fagerberg, Björn M Hallström, Cecilia Lindskog, Per Oksvold, Adil Mardinoglu, Åsa Sivertsson, Caroline Kampf, Evelina Sjöstedt, Anna Asplund,[...]. Science 2015
15

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Jean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, Mario DE Marchi, Gianfranco Rizzoni, Alessandra Renieri, Manfred Weber, Oliver Gross, Kai-Olaf Netzer, Frances Flinter,[...]. J Am Soc Nephrol 2000
295
15

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Christine Gast, Reuben J Pengelly, Matthew Lyon, David J Bunyan, Eleanor G Seaby, Nikki Graham, Gopalakrishnan Venkat-Raman, Sarah Ennis. Nephrol Dial Transplant 2016
100
15

Genotype-phenotype correlation in X-linked Alport syndrome.
Mir Reza Bekheirnia, Berenice Reed, Martin C Gregory, Kim McFann, Alireza Abdollah Shamshirsaz, Amirali Masoumi, Robert W Schrier. J Am Soc Nephrol 2010
102
15

Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
D F Barker, S L Hostikka, J Zhou, L T Chow, A R Oliphant, S C Gerken, M C Gregory, M H Skolnick, C L Atkin, K Tryggvason. Science 1990
630
15

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.
Clifford E Kashtan, Jie Ding, Guido Garosi, Laurence Heidet, Laura Massella, Koichi Nakanishi, Kandai Nozu, Alessandra Renieri, Michelle Rheault, Fang Wang,[...]. Kidney Int 2018
68
15

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
15

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Neil A Miller, Emily G Farrow, Margaret Gibson, Laurel K Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter,[...]. Genome Med 2015
117
15

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes.
Kim D Pruitt, Jennifer Harrow, Rachel A Harte, Craig Wallin, Mark Diekhans, Donna R Maglott, Steve Searle, Catherine M Farrell, Jane E Loveland, Barbara J Ruef,[...]. Genome Res 2009
370
15

Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data.
Goo Jun, Matthew Flickinger, Kurt N Hetrick, Jane M Romm, Kimberly F Doheny, Gonçalo R Abecasis, Michael Boehnke, Hyun Min Kang. Am J Hum Genet 2012
198
15

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
15

Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
Gundula Povysil, Olympe Chazara, Keren J Carss, Sri V V Deevi, Quanli Wang, Javier Armisen, Dirk S Paul, Christopher B Granger, John Kjekshus, Vimla Aggarwal,[...]. JAMA Cardiol 2021
7
28

A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Charles J Wolock, Nicholas Stong, Chu Jian Ma, Takayuki Nagasaki, Winston Lee, Stephen H Tsang, Sitharthan Kamalakaran, David B Goldstein, Rando Allikmets. Genet Med 2019
13
15


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.