A citation-based method for searching scientific literature

Mark N Ziats, Ayesha Ahmad, John A Bernat, Rachel Fisher, Megan Glassford, Mark C Hannibal, Joseph E Jacher, Natasha Weiser, Catherine E Keegan, Kristen N Lee, Tessa B Marzulla, Bridget C O'Connor, Shane C Quinonez, Lauren Seemann, Lauren Turner, Stephanie Bielas, Nicholas L Harris, Jacob D Ogle, Jeffrey W Innis, Donna M Martin. Pediatr Res 2020
Times Cited: 8







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



Times Cited
  Times     Co-cited
Similarity


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
75

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Qingguo Jiao, Haiming Sun, Haoya Zhang, Ran Wang, Suting Li, Dan Sun, Xiu-An Yang, Yan Jin. Clin Genet 2019
16
25

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
556
25

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
25

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.
Karthik A Jagadeesh, Aaron M Wenger, Mark J Berger, Harendra Guturu, Peter D Stenson, David N Cooper, Jonathan A Bernstein, Gill Bejerano. Nat Genet 2016
352
25

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
25

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, Saadet Mercimek-Andrews. Neuroscience 2019
31
25

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
12

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner,[...]. Genet Med 2017
104
12

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.
Yu Sun, Xiantao Ye, Yanjie Fan, Lili Wang, Xiaomei Luo, Huili Liu, Xueren Gao, Zhuwen Gong, Yu Wang, Wenjuan Qiu,[...]. Clin Chem 2020
5
20

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data.
Ramakrishnan Rajagopalan, Jill R Murrell, Minjie Luo, Laura K Conlin. Genome Med 2020
13
12

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
12


Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Amy B Wilfert, Arvis Sulovari, Tychele N Turner, Bradley P Coe, Evan E Eichler. Genome Med 2017
57
12

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
12

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.
Desheng Liang, Ying Peng, Weigang Lv, Linbei Deng, Yanghui Zhang, Haoxian Li, Pu Yang, Jianguang Zhang, Zhuo Song, Genming Xu,[...]. J Mol Diagn 2014
68
12


Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome.
Benilde García-de Teresa, Ariadna González-Del Angel, Miriam Erandi Reyna-Fabián, María de la Luz Ruiz-Reyes, Raúl Calzada-León, Bernardo Pérez-Enríquez, Miguel Angel Alcántara-Ortigoza. Thyroid 2015
7
14

In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
210
12

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Vincent Plagnol, James Curtis, Michael Epstein, Kin Y Mok, Emma Stebbings, Sofia Grigoriadou, Nicholas W Wood, Sophie Hambleton, Siobhan O Burns, Adrian J Thrasher,[...]. Bioinformatics 2012
309
12

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
125
12

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
328
12

De novo mutations in regulatory elements in neurodevelopmental disorders.
Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett,[...]. Nature 2018
104
12

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
286
12

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.
Jennifer Kerkhof, Laila C Schenkel, Jack Reilly, Sheri McRobbie, Erfan Aref-Eshghi, Alan Stuart, C Anthony Rupar, Paul Adams, Robert A Hegele, Hanxin Lin,[...]. J Mol Diagn 2017
69
12

CANOES: detecting rare copy number variants from whole exome sequencing data.
Daniel Backenroth, Jason Homsy, Laura R Murillo, Joe Glessner, Edwin Lin, Martina Brueckner, Richard Lifton, Elizabeth Goldmuntz, Wendy K Chung, Yufeng Shen. Nucleic Acids Res 2014
65
12

Developmental assessment of children.
Martin Bellman, Orlaith Byrne, Robert Sege. BMJ 2013
38
12

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
546
12

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
12

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
655
12

Uniparental disomy in a population of 32,067 clinical exome trios.
Julie Scuffins, Jennifer Keller-Ramey, Lindsay Dyer, Ganka Douglas, Rebecca Torene, Vladimir Gainullin, Jane Juusola, Jeanne Meck, Kyle Retterer. Genet Med 2021
5
20

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Patrick Rump, Omid Jazayeri, Krista K van Dijk-Bos, Lennart F Johansson, Anthonie J van Essen, Johanna B G M Verheij, Hermine E Veenstra-Knol, Egbert J W Redeker, Marcel M A M Mannens, Morris A Swertz,[...]. BMC Med Genomics 2016
44
12

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
12

Detection of clinically relevant copy number variants with whole-exome sequencing.
Joep de Ligt, Philip M Boone, Rolph Pfundt, Lisenka E L M Vissers, Todd Richmond, Joel Geoghegan, Kathleen O'Moore, Nicole de Leeuw, Christine Shaw, Han G Brunner,[...]. Hum Mutat 2013
80
12

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Peter N Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos. Am J Hum Genet 2008
474
12

AnnotSV: an integrated tool for structural variations annotation.
Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller. Bioinformatics 2018
62
12

ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
511
12

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.
Menachem Fromer, Jennifer L Moran, Kimberly Chambert, Eric Banks, Sarah E Bergen, Douglas M Ruderfer, Robert E Handsaker, Steven A McCarroll, Michael C O'Donovan, Michael J Owen,[...]. Am J Hum Genet 2012
341
12

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Chao Gao, Xiaona Wang, Shiyue Mei, Dongxiao Li, Jiali Duan, Pei Zhang, Baiyun Chen, Liang Han, Yang Gao, Zhenhua Yang,[...]. Front Genet 2019
10
12


MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
12


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
12

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
334
12


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
12

Validation of copy number variation analysis for next-generation sequencing diagnostics.
Jamie M Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev Bhaskar, Saurabh Gupta, Rachel L Taylor, Panagiotis I Sergouniotis, Bradley Horn, Janine A Lamb, Michel Michaelides,[...]. Eur J Hum Genet 2017
54
12


Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
Kevin Yauy, Nicole de Leeuw, Helger G Yntema, Rolph Pfundt, Christian Gilissen. Genet Med 2020
11
12

Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.
Shino Shimada, Nobuhiko Okamoto, Kyoko Hirasawa, Keisuke Yoshii, Yumi Tani, Midori Sugawara, Keiko Shimojima, Makiko Osawa, Toshiyuki Yamamoto. Am J Med Genet A 2013
17
12


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.