A citation-based method for searching scientific literature

Susan M Hiatt, James M J Lawlor, Lori H Handley, Ryne C Ramaker, Brianne B Rogers, E Christopher Partridge, Lori Beth Boston, Melissa Williams, Christopher B Plott, Jerry Jenkins, David E Gray, James M Holt, Kevin M Bowling, E Martina Bebin, Jane Grimwood, Jeremy Schmutz, Gregory M Cooper. HGG Adv 2021
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.
Yifan Zhou, Daman Kumari, Nicholas Sciascia, Karen Usdin. Mol Autism 2016
23
100


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
37
100

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
100

Non-ATG-initiated translation directed by microsatellite expansions.
Tao Zu, Brian Gibbens, Noelle S Doty, Mário Gomes-Pereira, Aline Huguet, Matthew D Stone, Jamie Margolis, Mark Peterson, Todd W Markowski, Melissa A C Ingram,[...]. Proc Natl Acad Sci U S A 2011
524
100

Diagnosing rare diseases after the exome.
Laure Frésard, Stephen B Montgomery. Cold Spring Harb Mol Case Stud 2018
15
100

Characterizing the Major Structural Variant Alleles of the Human Genome.
Peter A Audano, Arvis Sulovari, Tina A Graves-Lindsay, Stuart Cantsilieris, Melanie Sorensen, AnneMarie E Welch, Max L Dougherty, Bradley J Nelson, Ankeeta Shah, Susan K Dutcher,[...]. Cell 2019
134
100



Telomere-to-telomere assembly of a complete human X chromosome.
Karen H Miga, Sergey Koren, Arang Rhie, Mitchell R Vollger, Ariel Gershman, Andrey Bzikadze, Shelise Brooks, Edmund Howe, David Porubsky, Glennis A Logsdon,[...]. Nature 2020
116
100

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley,[...]. Genet Med 2018
58
100



International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Gareth Baynam, Anthony J Brookes, Michael Brudno, Angel Carracedo, Johan T den Dunnen,[...]. Am J Hum Genet 2017
143
100

SVIM: structural variant identification using mapped long reads.
David Heller, Martin Vingron. Bioinformatics 2019
34
100

Real-time selective sequencing using nanopore technology.
Matthew Loose, Sunir Malla, Michael Stout. Nat Methods 2016
83
100

Accurate detection of complex structural variations using single-molecule sequencing.
Fritz J Sedlazeck, Philipp Rescheneder, Moritz Smolka, Han Fang, Maria Nattestad, Arndt von Haeseler, Michael C Schatz. Nat Methods 2018
340
100

A complete bacterial genome assembled de novo using only nanopore sequencing data.
Nicholas J Loman, Joshua Quick, Jared T Simpson. Nat Methods 2015
483
100


Haplotype-resolved diverse human genomes and integrated analysis of structural variation.
Peter Ebert, Peter A Audano, Qihui Zhu, Bernardo Rodriguez-Martin, David Porubsky, Marc Jan Bonder, Arvis Sulovari, Jana Ebler, Weichen Zhou, Rebecca Serra Mari,[...]. Science 2021
22
100

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Amy J LaCroix, Deborah Stabley, Rebecca Sahraoui, Margaret P Adam, Michele Mehaffey, Kelly Kernan, Candace T Myers, Carrie Fagerstrom, George Anadiotis, Yassmine M Akkari,[...]. Am J Hum Genet 2019
27
100

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
100

Multiplex PCR method for MinION and Illumina sequencing of Zika and other virus genomes directly from clinical samples.
Joshua Quick, Nathan D Grubaugh, Steven T Pullan, Ingra M Claro, Andrew D Smith, Karthik Gangavarapu, Glenn Oliveira, Refugio Robles-Sikisaka, Thomas F Rogers, Nathan A Beutler,[...]. Nat Protoc 2017
344
100

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.
D Pfeifer, R Kist, K Dewar, K Devon, E S Lander, B Birren, L Korniszewski, E Back, G Scherer. Am J Hum Genet 1999
149
100

CRISPR-Cas9/long-read sequencing approach to identify cryptic mutations in BRCA1 and other tumour suppressor genes.
Tom Walsh, Silvia Casadei, Katherine M Munson, Mary Eng, Jessica B Mandell, Suleyman Gulsuner, Mary-Claire King. J Med Genet 2020
2
100

Targeted nanopore sequencing with Cas9-guided adapter ligation.
Timothy Gilpatrick, Isac Lee, James E Graham, Etienne Raimondeau, Rebecca Bowen, Andrew Heron, Bradley Downs, Saraswati Sukumar, Fritz J Sedlazeck, Winston Timp. Nat Biotechnol 2020
55
100

Structural variant calling: the long and the short of it.
Medhat Mahmoud, Nastassia Gobet, Diana Ivette Cruz-Dávalos, Ninon Mounier, Christophe Dessimoz, Fritz J Sedlazeck. Genome Biol 2019
56
100

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
100

Long-read human genome sequencing and its applications.
Glennis A Logsdon, Mitchell R Vollger, Evan E Eichler. Nat Rev Genet 2020
60
100

Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Elizabeth Emma Palmer, Rani Sachdev, Rebecca Macintosh, Uirá Souto Melo, Stefan Mundlos, Sarah Righetti, Tejaswi Kandula, Andre E Minoche, Clare Puttick, Velimir Gayevskiy,[...]. Neurology 2021
1
100

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, Fritz J Sedlazeck, Xiaofei Song, Qingchang Meng, Jianhong Hu, Harsha Doddapaneni, Zechen Chong, Edward S Chen,[...]. Cell 2019
25
100


Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome.
Aaron M Wenger, Paul Peluso, William J Rowell, Pi-Chuan Chang, Richard J Hall, Gregory T Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D Olson,[...]. Nat Biotechnol 2019
215
100

The "All of Us" Research Program.
Joshua C Denny, Joni L Rutter, David B Goldstein, Anthony Philippakis, Jordan W Smoller, Gwynne Jenkins, Eric Dishman. N Engl J Med 2019
163
100


Readfish enables targeted nanopore sequencing of gigabase-sized genomes.
Alexander Payne, Nadine Holmes, Thomas Clarke, Rory Munro, Bisrat J Debebe, Matthew Loose. Nat Biotechnol 2021
10
100

Simultaneous profiling of chromatin accessibility and methylation on human cell lines with nanopore sequencing.
Isac Lee, Roham Razaghi, Timothy Gilpatrick, Michael Molnar, Ariel Gershman, Norah Sadowski, Fritz J Sedlazeck, Kasper D Hansen, Jared T Simpson, Winston Timp. Nat Methods 2020
15
100

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.
David R Murdock, Hongzheng Dai, Lindsay C Burrage, Jill A Rosenfeld, Shamika Ketkar, Michaela F Müller, Vicente A Yépez, Julien Gagneur, Pengfei Liu, Shan Chen,[...]. J Clin Invest 2021
10
100

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
100

Genome-wide detection of tandem DNA repeats that are expanded in autism.
Brett Trost, Worrawat Engchuan, Charlotte M Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A Mojarad, Yue Yin, Alona Dov,[...]. Nature 2020
31
100

CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
773
100

Long-read sequencing for rare human genetic diseases.
Satomi Mitsuhashi, Naomichi Matsumoto. J Hum Genet 2020
25
100

The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Michael Brudno, Han G Brunner, Orion J Buske, Knox Carey, Cassie Doll,[...]. Hum Mutat 2015
224
100

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.
Y H Fu, D P Kuhl, A Pizzuti, M Pieretti, J S Sutcliffe, S Richards, A J Verkerk, J J Holden, R G Fenwick, S T Warren. Cell 1991
100


Evolution of the mammalian transcription factor binding repertoire via transposable elements.
Guillaume Bourque, Bernard Leong, Vinsensius B Vega, Xi Chen, Yen Ling Lee, Kandhadayar G Srinivasan, Joon-Lin Chew, Yijun Ruan, Chia-Lin Wei, Huck Hui Ng,[...]. Genome Res 2008
314
100

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
100

Human-specific tandem repeat expansion and differential gene expression during primate evolution.
Arvis Sulovari, Ruiyang Li, Peter A Audano, David Porubsky, Mitchell R Vollger, Glennis A Logsdon, Wesley C Warren, Alex A Pollen, Mark J P Chaisson, Evan E Eichler. Proc Natl Acad Sci U S A 2019
22
100

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.
Ron Hochstenbach, Thomas Liehr, Rosalind J Hastings. Eur J Hum Genet 2021
5
100

Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins,[...]. Nat Commun 2019
213
100


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.