A citation-based method for searching scientific literature

Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg, Nienke Wieskamp, Alexander P A Stegmann, Servi J C Stevens, Richard J T Rodenburg, Annet Simons, Arjen R Mensenkamp, Tuula Rinne, Christian Gilissen, Hans Scheffer, Joris A Veltman, Jayne Y Hehir-Kwa. Genet Med 2017
Times Cited: 71







List of co-cited articles
321 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
39

Copy number variation detection and genotyping from exome sequence data.
Niklas Krumm, Peter H Sudmant, Arthur Ko, Brian J O'Roak, Maika Malig, Bradley P Coe, Aaron R Quinlan, Deborah A Nickerson, Evan E Eichler. Genome Res 2012
356
29

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
29

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
21

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Kornelia Neveling, Ilse Feenstra, Christian Gilissen, Lies H Hoefsloot, Erik-Jan Kamsteeg, Arjen R Mensenkamp, Richard J T Rodenburg, Helger G Yntema, Liesbeth Spruijt, Sascha Vermeer,[...]. Hum Mutat 2013
215
14


Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
783
11

An evaluation of copy number variation detection tools from whole-exome sequencing data.
Renjie Tan, Yadong Wang, Sarah E Kleinstein, Yongzhuang Liu, Xiaolin Zhu, Hongzhe Guo, Qinghua Jiang, Andrew S Allen, Mingfu Zhu. Hum Mutat 2014
122
11

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
288
11

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
9

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
955
9

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
9

Exome sequencing and whole genome sequencing for the detection of copy number variation.
Jayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman. Expert Rev Mol Diagn 2015
42
16

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
78
9

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M B Carvalho, Chad Shaw, Shalini Jhangiani, Philip M Boone, Mohammad K Eldomery,[...]. Nucleic Acids Res 2017
62
11

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda-Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova,[...]. Genet Med 2015
74
9

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
49
14

Assessing the reproducibility of exome copy number variations predictions.
Celine S Hong, Larry N Singh, James C Mullikin, Leslie G Biesecker. Genome Med 2016
21
33

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives.
Min Zhao, Qingguo Wang, Quan Wang, Peilin Jia, Zhongming Zhao. BMC Bioinformatics 2013
250
8

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
625
8

A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
362
8

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
329
8

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Andrew M Gross, Subramanian S Ajay, Vani Rajan, Carolyn Brown, Krista Bluske, Nicole J Burns, Aditi Chawla, Alison J Coffey, Alka Malhotra, Alicia Scocchia,[...]. Genet Med 2019
30
20

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
7

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Katherine L Helbig, Kelly D Farwell Hagman, Deepali N Shinde, Cameron Mroske, Zöe Powis, Shuwei Li, Sha Tang, Ingo Helbig. Genet Med 2016
160
7

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
7


American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
504
7

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
464
7

Identification of novel candidate disease genes from de novo exonic copy number variants.
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Zeynep Coban-Akdemir, Amber N Pursley, Sandesh C S Nagamani, Ronit Marom, Sailaja Golla,[...]. Genome Med 2017
35
14

Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.
Romina D'Aurizio, Tommaso Pippucci, Lorenzo Tattini, Betti Giusti, Marco Pellegrini, Alberto Magi. Nucleic Acids Res 2016
43
11

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
683
7

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
7

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
7


Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Daniel S Marchuk, Kristy Crooks, Natasha Strande, Kathleen Kaiser-Rogers, Laura V Milko, Alicia Brandt, Alexandra Arreola, Christian R Tilley, Chris Bizon, Neeta L Vora,[...]. PLoS One 2018
22
22

Evaluation of three read-depth based CNV detection tools using whole-exome sequencing data.
Ruen Yao, Cheng Zhang, Tingting Yu, Niu Li, Xuyun Hu, Xiumin Wang, Jian Wang, Yiping Shen. Mol Cytogenet 2017
42
11

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Christina M Sloan-Heggen, Amanda O Bierer, A Eliot Shearer, Diana L Kolbe, Carla J Nishimura, Kathy L Frees, Sean S Ephraim, Seiji B Shibata, Kevin T Booth, Colleen A Campbell,[...]. Hum Genet 2016
169
5

Copy number variants are a common cause of non-syndromic hearing loss.
A Eliot Shearer, Diana L Kolbe, Hela Azaiez, Christina M Sloan, Kathy L Frees, Amy E Weaver, Erika T Clark, Carla J Nishimura, E Ann Black-Ziegelbein, Richard J H Smith. Genome Med 2014
84
5

Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss,[...]. Eur J Hum Genet 2016
221
5

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai,[...]. Eur J Hum Genet 2014
79
5

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
474
5

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Philip M Boone, Ian M Campbell, Brett C Baggett, Zachry T Soens, Mitchell M Rao, Patricia M Hixson, Ankita Patel, Weimin Bi, Sau Wai Cheung, Seema R Lalani,[...]. Genome Res 2013
47
8

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Daniel A King, Tomas W Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton-Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E Hurles. Genome Res 2014
33
12

Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Ozge Ceyhan-Birsoy, Trevor J Pugh, Mark J Bowser, Elizabeth Hynes, Ashley L Frisella, Lisa M Mahanta, Matt S Lebo, Sami S Amr, Birgit H Funke. Mol Genet Genomic Med 2015
24
16

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
314
5

Initial sequencing and analysis of the human genome.
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
5

Lessons learned from additional research analyses of unsolved clinical exome cases.
Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke,[...]. Genome Med 2017
101
5

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
423
5

Mapping copy number variation by population-scale genome sequencing.
Ryan E Mills, Klaudia Walter, Chip Stewart, Robert E Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Chris Yoon, Kai Ye, R Keira Cheetham,[...]. Nature 2011
697
5


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.