A citation-based method for searching scientific literature

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, Fan Xia, Arthur L Beaudet, Donna M Muzny, Richard A Gibbs, Eric Boerwinkle, Christine M Eng, V Reid Sutton, Chad A Shaw, Sharon E Plon, Yaping Yang, James R Lupski. N Engl J Med 2017
Times Cited: 316







List of co-cited articles
308 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
42

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
17

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
792
15

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady,[...]. Sci Transl Med 2017
261
10

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
433
9

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
T B Balci, T Hartley, Y Xi, D A Dyment, C L Beaulieu, F P Bernier, L Dupuis, G A Horvath, R Mendoza-Londono, C Prasad,[...]. Clin Genet 2017
50
18

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
8

Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir,[...]. Genet Med 2018
52
15

Genetic diagnosis of Mendelian disorders via RNA sequencing.
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile,[...]. Nat Commun 2017
194
6

Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller,[...]. N Engl J Med 2016
165
6

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
6

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
172
6

A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Erica D Smith, Kirsten Blanco, Samin A Sajan, Jesse M Hunter, Deepali N Shinde, Bess Wayburn, Mari Rossi, Jennifer Huang, Cathy A Stevens, Candace Muss,[...]. Genet Med 2019
13
46

Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019
59
10


Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Hernan D Gonorazky, Sergey Naumenko, Arun K Ramani, Viswateja Nelakuditi, Pouria Mashouri, Peiqui Wang, Dennis Kao, Krish Ohri, Senthuri Viththiyapaskaran, Mark A Tarnopolsky,[...]. Am J Hum Genet 2019
63
7

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
5

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
5

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
799
5

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
5

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
5

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Kimberly Splinter, David R Adams, Carlos A Bacino, Hugo J Bellen, Jonathan A Bernstein, Alys M Cheatle-Jarvela, Christine M Eng, Cecilia Esteves, William A Gahl, Rizwan Hamid,[...]. N Engl J Med 2018
106
5

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
59
8

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
920
5

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
589
5

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
285
5

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
176
4

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
150
4

Predicting disease-causing variant combinations.
Sofia Papadimitriou, Andrea Gazzo, Nassim Versbraegen, Charlotte Nachtegael, Jan Aerts, Yves Moreau, Sonia Van Dooren, Ann Nowé, Guillaume Smits, Tom Lenaerts. Proc Natl Acad Sci U S A 2019
19
21

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Sahin, Alper Gezdirici, Jawid M Fatih,[...]. Am J Hum Genet 2019
30
13

VarSome: the human genomic variant search engine.
Christos Kopanos, Vasilis Tsiolkas, Alexandros Kouris, Charles E Chapple, Monica Albarca Aguilera, Richard Meyer, Andreas Massouras. Bioinformatics 2019
342
4

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
363
4

Genome sequencing and implications for rare disorders.
Jennifer E Posey. Orphanet J Rare Dis 2019
25
16

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry,[...]. Nucleic Acids Res 2019
226
4

Next-generation sequencing demands next-generation phenotyping.
Raoul C M Hennekam, Leslie G Biesecker. Hum Mutat 2012
109
4

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
315
4

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
353
4

Molecular diagnostic experience of whole-exome sequencing in adult patients.
Jennifer E Posey, Jill A Rosenfeld, Regis A James, Matthew Bainbridge, Zhiyv Niu, Xia Wang, Shweta Dhar, Wojciech Wiszniewski, Zeynep H C Akdemir, Tomasz Gambin,[...]. Genet Med 2016
115
4

The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Clare Turnbull, Richard H Scott, Ellen Thomas, Louise Jones, Nirupa Murugaesu, Freya Boardman Pretty, Dina Halai, Emma Baple, Clare Craig, Angela Hamblin,[...]. BMJ 2018
160
4

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
98
4

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
43
9

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
558
4

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
4

Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
Jason D Merker, Aaron M Wenger, Tam Sneddon, Megan Grove, Zachary Zappala, Laure Fresard, Daryl Waggott, Sowmi Utiramerur, Yanli Hou, Kevin S Smith,[...]. Genet Med 2018
84
3

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui,[...]. Science 2016
260
3

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
592
3

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
3

Detection of long repeat expansions from PCR-free whole-genome sequence data.
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,[...]. Genome Res 2017
113
3

Exome sequencing identifies the cause of a mendelian disorder.
Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson,[...]. Nat Genet 2010
3

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Kym M Boycott, Taila Hartley, Leslie G Biesecker, Richard A Gibbs, A Micheil Innes, Olaf Riess, John Belmont, Sally L Dunwoodie, Nebojsa Jojic, Timo Lassmann,[...]. Cell 2019
35
8


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.