A citation-based method for searching scientific literature

Yun Rose Li, Joseph T Glessner, Bradley P Coe, Jin Li, Maede Mohebnasab, Xiao Chang, John Connolly, Charlly Kao, Zhi Wei, Jonathan Bradfield, Cecilia Kim, Cuiping Hou, Munir Khan, Frank Mentch, Haijun Qiu, Marina Bakay, Christopher Cardinale, Maria Lemma, Debra Abrams, Andrew Bridglall-Jhingoor, Meckenzie Behr, Shanell Harrison, George Otieno, Alexandria Thomas, Fengxiang Wang, Rosetta Chiavacci, Lawrence Wu, Dexter Hadley, Elizabeth Goldmuntz, Josephine Elia, John Maris, Robert Grundmeier, Marcella Devoto, Brendan Keating, Michael March, Renata Pellagrino, Struan F A Grant, Patrick M A Sleiman, Mingyao Li, Evan E Eichler, Hakon Hakonarson. Nat Commun 2020
Times Cited: 9







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



Times Cited
  Times     Co-cited
Similarity


A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
106
33

BEDOPS: high-performance genomic feature operations.
Shane Neph, M Scott Kuehn, Alex P Reynolds, Eric Haugen, Robert E Thurman, Audra K Johnson, Eric Rynes, Matthew T Maurano, Jeff Vierstra, Sean Thomas,[...]. Bioinformatics 2012
355
22

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
22


Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Nick Craddock, Matthew E Hurles, Niall Cardin, Richard D Pearson, Vincent Plagnol, Samuel Robson, Damjan Vukcevic, Chris Barnes, Donald F Conrad, Eleni Giannoulatou,[...]. Nature 2010
569
22

Mapping and characterization of structural variation in 17,795 human genomes.
Haley J Abel, David E Larson, Allison A Regier, Colby Chiang, Indraniel Das, Krishna L Kanchi, Ryan M Layer, Benjamin M Neale, William J Salerno, Catherine Reeves,[...]. Nature 2020
27
22

Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
Johannes Kettunen, Taru Tukiainen, Antti-Pekka Sarin, Alfredo Ortega-Alonso, Emmi Tikkanen, Leo-Pekka Lyytikäinen, Antti J Kangas, Pasi Soininen, Peter Würtz, Kaisa Silander,[...]. Nat Genet 2012
373
22

Origins and functional impact of copy number variation in the human genome.
Donald F Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Yujun Zhang, Jan Aerts, T Daniel Andrews, Chris Barnes, Peter Campbell,[...]. Nature 2010
22

A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
368
22

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
632
22

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
136
22

Systematic analysis of dark and camouflaged genes reveals disease-relevant genes hiding in plain sight.
Mark T W Ebbert, Tanner D Jensen, Karen Jansen-West, Jonathon P Sens, Joseph S Reddy, Perry G Ridge, John S K Kauwe, Veronique Belzil, Luc Pregent, Minerva M Carrasquillo,[...]. Genome Biol 2019
47
11

BioMart and Bioconductor: a powerful link between biological databases and microarray data analysis.
Steffen Durinck, Yves Moreau, Arek Kasprzyk, Sean Davis, Bart De Moor, Alvis Brazma, Wolfgang Huber. Bioinformatics 2005
825
11

Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.
Kathryn J Swoboda, Thomas W Prior, Charles B Scott, Teresa P McNaught, Mark C Wride, Sandra P Reyna, Mark B Bromberg. Ann Neurol 2005
280
11

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly.
Valerie A Schneider, Tina Graves-Lindsay, Kerstin Howe, Nathan Bouk, Hsiu-Chuan Chen, Paul A Kitts, Terence D Murphy, Kim D Pruitt, Françoise Thibaud-Nissen, Derek Albracht,[...]. Genome Res 2017
218
11


Newborn and carrier screening for spinal muscular atrophy.
Thomas W Prior, Pamela J Snyder, Britton D Rink, Dennis K Pearl, Robert E Pyatt, David C Mihal, Todd Conlan, Betsy Schmalz, Laura Montgomery, Katie Ziegler,[...]. Am J Med Genet A 2010
143
11

Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.
Emma Lundman, H Junita Gaup, Egil Bakkeheim, Edda J Olafsdottir, Terje Rootwelt, Olav Trond Storrøsten, Rolf D Pettersen. J Cyst Fibros 2016
20
11

A fast and symmetric DUST implementation to mask low-complexity DNA sequences.
Aleksandr Morgulis, E Michael Gertz, Alejandro A Schäffer, Richa Agarwala. J Comput Biol 2006
227
11

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Diana Mandelker, Ryan J Schmidt, Arunkanth Ankala, Kristin McDonald Gibson, Mark Bowser, Himanshu Sharma, Elizabeth Duffy, Madhuri Hegde, Avni Santani, Matthew Lebo,[...]. Genet Med 2016
69
11

Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis,[...]. Sci Transl Med 2012
366
11

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
11

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
122
11


Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation.
Despina Moshous, Emmanuel Martin, Wassila Carpentier, Annick Lim, Isabelle Callebaut, Danielle Canioni, Fabian Hauck, Jacek Majewski, Jeremy Schwartzentruber, Patrick Nitschke,[...]. J Allergy Clin Immunol 2013
91
11

Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.
Janne Strand, Kiran Aftab Gul, Hans Christian Erichsen, Emma Lundman, Mona C Berge, Anette K Trømborg, Linda K Sørgjerd, Mari Ytre-Arne, Silje Hogner, Ruth Halsne,[...]. Front Immunol 2020
8
12


Ensembl 2018.
Daniel R Zerbino, Premanand Achuthan, Wasiu Akanni, M Ridwan Amode, Daniel Barrell, Jyothish Bhai, Konstantinos Billis, Carla Cummins, Astrid Gall, Carlos García Girón,[...]. Nucleic Acids Res 2018
11

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
F Boemer, C Fasquelle, S d'Otreppe, C Josse, V Dideberg, K Segers, V Guissard, V Capraro, F G Debray, V Bours. Sci Rep 2017
10
11


Hybrid error correction and de novo assembly of single-molecule sequencing reads.
Sergey Koren, Michael C Schatz, Brian P Walenz, Jeffrey Martin, Jason T Howard, Ganeshkumar Ganapathy, Zhong Wang, David A Rasko, W Richard McCombie, Erich D Jarvis,[...]. Nat Biotechnol 2012
580
11

Newborn screening and the era of medical genomics.
Ludmila Francescatto, Nicholas Katsanis. Semin Perinatol 2015
12
11

A mechanistic basis for amplification differences between samples and between genome regions.
Colin D Veal, Peter J Freeman, Kevin Jacobs, Owen Lancaster, Stéphane Jamain, Marion Leboyer, Demetrius Albanes, Reshma R Vaghela, Ivo Gut, Stephen J Chanock,[...]. BMC Genomics 2012
28
11

The variant call format and VCFtools.
Petr Danecek, Adam Auton, Goncalo Abecasis, Cornelis A Albers, Eric Banks, Mark A DePristo, Robert E Handsaker, Gerton Lunter, Gabor T Marth, Stephen T Sherry,[...]. Bioinformatics 2011
11

Genomics in newborn screening.
Yuval E Landau, Uta Lichter-Konecki, Harvey L Levy. J Pediatr 2014
36
11

ANGSD: Analysis of Next Generation Sequencing Data.
Thorfinn Sand Korneliussen, Anders Albrechtsen, Rasmus Nielsen. BMC Bioinformatics 2014
708
11

Deep intronic mutations and human disease.
Rita Vaz-Drago, Noélia Custódio, Maria Carmo-Fonseca. Hum Genet 2017
145
11

Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice.
I Christiaans, O R F Mook, M Alders, H Bikker, R H Lekanne Dit Deprez. Neth Heart J 2019
6
16

Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Dale L Bodian, Elisabeth Klein, Ramaswamy K Iyer, Wendy S W Wong, Prachi Kothiyal, Daniel Stauffer, Kathi C Huddleston, Amber D Gaither, Irina Remsburg, Alina Khromykh,[...]. Genet Med 2016
50
11

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Asbjorg Stray-Pedersen, Emmanuelle Jouanguy, Amandine Crequer, Alison A Bertuch, Betty S Brown, Shalini N Jhangiani, Donna M Muzny, Tomasz Gambin, Hanne Sorte, Ghadir Sasa,[...]. J Clin Immunol 2014
46
11

Current status of newborn screening worldwide: 2015.
Bradford L Therrell, Carmencita David Padilla, J Gerard Loeber, Issam Kneisser, Amal Saadallah, Gustavo J C Borrajo, John Adams. Semin Perinatol 2015
200
11


Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.
Glynis Frans, Wim Meert, Jutte Van der Werff Ten Bosch, Isabelle Meyts, Xavier Bossuyt, Joris R Vermeesch, Matthew S Hestand. J Mol Diagn 2018
12
11

Spinal muscular atrophy--clinical and genetic correlations.
K Zerres, B Wirth, S Rudnik-Schöneborn. Neuromuscul Disord 1997
76
11

Quantifying population genetic differentiation from next-generation sequencing data.
Matteo Fumagalli, Filipe G Vieira, Thorfinn Sand Korneliussen, Tyler Linderoth, Emilia Huerta-Sánchez, Anders Albrechtsen, Rasmus Nielsen. Genetics 2013
103
11

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
11

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
11


Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
Amali C Mallawaarachchi, Yvonne Hort, Mark J Cowley, Mark J McCabe, André Minoche, Marcel E Dinger, John Shine, Timothy J Furlong. Eur J Hum Genet 2016
36
11

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.
Matthew D Mailman, John W Heinz, Audrey C Papp, Pamela J Snyder, Mary S Sedra, Brunhilde Wirth, Arthur H M Burghes, Thomas W Prior. Genet Med 2002
193
11


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.