A citation-based method for searching scientific literature

Egor Dolzhenko, Joke J F A van Vugt, Richard J Shaw, Mitchell A Bekritsky, Marka van Blitterswijk, Giuseppe Narzisi, Subramanian S Ajay, Vani Rajan, Bryan R Lajoie, Nathan H Johnson, Zoya Kingsbury, Sean J Humphray, Raymond D Schellevis, William J Brands, Matt Baker, Rosa Rademakers, Maarten Kooyman, Gijs H P Tazelaar, Michael A van Es, Russell McLaughlin, William Sproviero, Aleksey Shatunov, Ashley Jones, Ahmad Al Khleifat, Alan Pittman, Sarah Morgan, Orla Hardiman, Ammar Al-Chalabi, Chris Shaw, Bradley Smith, Edmund J Neo, Karen Morrison, Pamela J Shaw, Catherine Reeves, Lara Winterkorn, Nancy S Wexler, David E Housman, Christopher W Ng, Alina L Li, Ryan J Taft, Leonard H van den Berg, David R Bentley, Jan H Veldink, Michael A Eberle. Genome Res 2017
Times Cited: 114







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



Times Cited
  Times     Co-cited
Similarity


STRetch: detecting and discovering pathogenic short tandem repeat expansions.
Harriet Dashnow, Monkol Lek, Belinda Phipson, Andreas Halman, Simon Sadedin, Andrew Lonsdale, Mark Davis, Phillipa Lamont, Joshua S Clayton, Nigel G Laing,[...]. Genome Biol 2018
47
51

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Haibao Tang, Ewen F Kirkness, Christoph Lippert, William H Biggs, Martin Fabani, Ernesto Guzman, Smriti Ramakrishnan, Victor Lavrenko, Boyko Kakaradov, Claire Hou,[...]. Am J Hum Genet 2017
53
43

Detecting Expansions of Tandem Repeats in Cohorts Sequenced with Short-Read Sequencing Data.
Rick M Tankard, Mark F Bennett, Peter Degorski, Martin B Delatycki, Paul J Lockhart, Melanie Bahlo. Am J Hum Genet 2018
35
62

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
Mariely DeJesus-Hernandez, Ian R Mackenzie, Bradley F Boeve, Adam L Boxer, Matt Baker, Nicola J Rutherford, Alexandra M Nicholson, NiCole A Finch, Heather Flynn, Jennifer Adamson,[...]. Neuron 2011
20

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
19

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
17

Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy.
Hiroyuki Ishiura, Koichiro Doi, Jun Mitsui, Jun Yoshimura, Miho Kawabe Matsukawa, Asao Fujiyama, Yasuko Toyoshima, Akiyoshi Kakita, Hitoshi Takahashi, Yutaka Suzuki,[...]. Nat Genet 2018
109
17

Profiling the genome-wide landscape of tandem repeat expansions.
Nima Mousavi, Sharona Shleizer-Burko, Richard Yanicky, Melissa Gymrek. Nucleic Acids Res 2019
31
54

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD.
Alan E Renton, Elisa Majounie, Adrian Waite, Javier Simón-Sánchez, Sara Rollinson, J Raphael Gibbs, Jennifer C Schymick, Hannu Laaksovirta, John C van Swieten, Liisa Myllykangas,[...]. Neuron 2011
16

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
15

Genome-wide profiling of heritable and de novo STR variations.
Thomas Willems, Dina Zielinski, Jie Yuan, Assaf Gordon, Melissa Gymrek, Yaniv Erlich. Nat Methods 2017
70
20

lobSTR: A short tandem repeat profiler for personal genomes.
Melissa Gymrek, David Golan, Saharon Rosset, Yaniv Erlich. Genome Res 2012
168
14

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
481
13



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

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.
Egor Dolzhenko, Viraj Deshpande, Felix Schlesinger, Peter Krusche, Roman Petrovski, Sai Chen, Dorothea Emig-Agius, Andrew Gross, Giuseppe Narzisi, Brett Bowman,[...]. Bioinformatics 2019
39
30

Recent advances in the detection of repeat expansions with short-read next-generation sequencing.
Melanie Bahlo, Mark F Bennett, Peter Degorski, Rick M Tankard, Martin B Delatycki, Paul J Lockhart. F1000Res 2018
31
38

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
11



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

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
10

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia.
Andrea Cortese, Roberto Simone, Roisin Sullivan, Jana Vandrovcova, Huma Tariq, Wai Yan Yau, Jack Humphrey, Zane Jaunmuktane, Prasanth Sivakumar, James Polke,[...]. Nat Genet 2019
115
10

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder,[...]. Nat Commun 2019
38
26

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa,[...]. Nat Commun 2019
30
33

LUMPY: a probabilistic framework for structural variant discovery.
Ryan M Layer, Colby Chiang, Aaron R Quinlan, Ira M Hall. Genome Biol 2014
545
9

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
179
9

An integrated map of structural variation in 2,504 human genomes.
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz,[...]. Nature 2015
947
9

Intronic pentanucleotide TTTCA repeat insertion in the SAMD12 gene causes familial cortical myoclonic tremor with epilepsy type 1.
Zhidong Cen, Zhengwen Jiang, You Chen, Xiaosheng Zheng, Fei Xie, Xiaodong Yang, Xingjiao Lu, Zhiyuan Ouyang, Hongwei Wu, Si Chen,[...]. Brain 2018
35
25

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms.
Come Raczy, Roman Petrovski, Christopher T Saunders, Ilya Chorny, Semyon Kruglyak, Elliott H Margulies, Han-Yu Chuang, Morten Källberg, Swathi A Kumar, Arnold Liao,[...]. Bioinformatics 2013
167
8

Abundant contribution of short tandem repeats to gene expression variation in humans.
Melissa Gymrek, Thomas Willems, Audrey Guilmatre, Haoyang Zeng, Barak Markus, Stoyan Georgiev, Mark J Daly, Alkes L Price, Jonathan K Pritchard, Andrew J Sharp,[...]. Nat Genet 2016
142
8

The landscape of human STR variation.
Thomas Willems, Melissa Gymrek, Gareth Highnam, David Mittelman, Yaniv Erlich. Genome Res 2014
110
8

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Chizuru Akimoto, Alexander E Volk, Marka van Blitterswijk, Marleen Van den Broeck, Claire S Leblond, Serge Lumbroso, William Camu, Birgit Neitzel, Osamu Onodera, Wouter van Rheenen,[...]. J Med Genet 2014
84
9


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
819
8

Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease.
Mark T W Ebbert, Stefan L Farrugia, Jonathon P Sens, Karen Jansen-West, Tania F Gendron, Mercedes Prudencio, Ian J McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez,[...]. Mol Neurodegener 2018
44
18

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara L M Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle,[...]. Am J Hum Genet 2019
54
14

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
125
7

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.
Wouter van Rheenen, Aleksey Shatunov, Annelot M Dekker, Russell L McLaughlin, Frank P Diekstra, Sara L Pulit, Rick A A van der Spek, Urmo Võsa, Simone de Jong, Matthew R Robinson,[...]. Nat Genet 2016
251
7

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.
Erick W Loomis, John S Eid, Paul Peluso, Jun Yin, Luke Hickey, David Rank, Sarah McCalmon, Randi J Hagerman, Flora Tassone, Paul J Hagerman. Genome Res 2013
111
7


Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Andrew C Elden, Hyung-Jun Kim, Michael P Hart, Alice S Chen-Plotkin, Brian S Johnson, Xiaodong Fang, Maria Armakola, Felix Geser, Robert Greene, Min Min Lu,[...]. Nature 2010
755
7

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?
Peter M Andersen, Ammar Al-Chalabi. Nat Rev Neurol 2011
443
7

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A Dominov, Brendan J Kenna, Mike A Nalls, Pamela Keagle,[...]. Neuron 2018
203
7

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Sheng Zeng, Mei-Yun Zhang, Xue-Jing Wang, Zheng-Mao Hu, Jin-Chen Li, Nan Li, Jun-Ling Wang, Fan Liang, Qi Yang, Qian Liu,[...]. J Med Genet 2019
40
17

The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
7

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
7

Nanopore sequencing and assembly of a human genome with ultra-long reads.
Miten Jain, Sergey Koren, Karen H Miga, Josh Quick, Arthur C Rand, Thomas A Sasani, John R Tyson, Andrew D Beggs, Alexander T Dilthey, Ian T Fiddes,[...]. Nat Biotechnol 2018
615
7

Targeted genotyping of variable number tandem repeats with adVNTR.
Mehrdad Bakhtiari, Sharona Shleizer-Burko, Melissa Gymrek, Vikas Bansal, Vineet Bafna. Genome Res 2018
15
46


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.