A citation-based method for searching scientific literature

David R Adams, Christine M Eng. N Engl J Med 2018
Times Cited: 86







List of co-cited articles
310 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
38

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
9

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
9

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

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
8

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
8

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
8

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

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
6


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
6

Deep intronic mutations and human disease.
Rita Vaz-Drago, Noélia Custódio, Maria Carmo-Fonseca. Hum Genet 2017
145
6

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
188
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

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tiong Yang Tan, Oliver James Dillon, Zornitza Stark, Deborah Schofield, Khurshid Alam, Rupendra Shrestha, Belinda Chong, Dean Phelan, Gemma R Brett, Emma Creed,[...]. JAMA Pediatr 2017
136
5

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
5

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
David N Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki. Hum Genet 2013
302
5

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Jenny C Taylor, Hilary C Martin, Stefano Lise, John Broxholme, Jean-Baptiste Cazier, Andy Rimmer, Alexander Kanapin, Gerton Lunter, Simon Fiddy, Chris Allan,[...]. Nat Genet 2015
189
5

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
226
5

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
5

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
5


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
5

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

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.
R Cascella, C Strafella, G Longo, L Manzo, M Ragazzo, C De Felici, S Gambardella, L T Marsella, G Novelli, P Borgiani,[...]. Eye (Lond) 2018
16
25

Application of Precision Medicine in Neurodegenerative Diseases.
Claudia Strafella, Valerio Caputo, Maria R Galota, Stefania Zampatti, Gianluca Marella, Silvestro Mauriello, Raffaella Cascella, Emiliano Giardina. Front Neurol 2018
36
11

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
136
4

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
613
4

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
488
4

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
4

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
344
4

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

Diagnostic clinical genome and exome sequencing.
Leslie G Biesecker, Robert C Green. N Engl J Med 2014
340
4

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
4

Predicting functional effect of human missense mutations using PolyPhen-2.
Ivan Adzhubei, Daniel M Jordan, Shamil R Sunyaev. Curr Protoc Hum Genet 2013
4

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
6

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.
Murim Choi, Ute I Scholl, Weizhen Ji, Tiewen Liu, Irina R Tikhonova, Paul Zumbo, Ahmet Nayir, Ayşin Bakkaloğlu, Seza Ozen, Sami Sanjad,[...]. Proc Natl Acad Sci U S A 2009
833
4

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
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

Molecular genetics ‎characterization and homology modeling of the CHM gene mutation: A study on its association with choroideremia.
Saber Imani, Iqra Ijaz, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Jingliang Cheng, Junjiang Fu. Mutat Res Rev Mutat Res 2018
17
23

A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.
Jiewen Fu, Jingliang Cheng, Qi Zhou, Chunli Wei, Hanchun Chen, Hongbin Lv, Junjiang Fu. Biosci Rep 2019
6
66

Identification of a novel germline BRCA2 variant in a Chinese breast cancer family.
Jingliang Cheng, Jiangzhou Peng, Jiewen Fu, Md Asaduzzaman Khan, Pingping Tan, Chunli Wei, Xiyun Deng, Hanchun Chen, Junjiang Fu. J Cell Mol Med 2020
10
40


A novel splicing mutation in the PRPH2 gene causes autosomal dominant retinitis pigmentosa in a Chinese pedigree.
Jingliang Cheng, Jiewen Fu, Qi Zhou, Xiaohong Xiang, Chunli Wei, Lisha Yang, Shangyi Fu, Md Asaduzzaman Khan, Hongbin Lv, Junjiang Fu. J Cell Mol Med 2019
12
33


CDD/SPARCLE: functional classification of proteins via subfamily domain architectures.
Aron Marchler-Bauer, Yu Bo, Lianyi Han, Jane He, Christopher J Lanczycki, Shennan Lu, Farideh Chitsaz, Myra K Derbyshire, Renata C Geer, Noreen R Gonzales,[...]. Nucleic Acids Res 2017
4

Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probands.
Qi Zhang, Mingchu Xu, Jennifer D Verriotto, Yumei Li, Hui Wang, Lin Gan, Byron L Lam, Rui Chen. Sci Rep 2016
27
14

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
3

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Aziz Belkadi, Alexandre Bolze, Yuval Itan, Aurélie Cobat, Quentin B Vincent, Alexander Antipenko, Lei Shang, Bertrand Boisson, Jean-Laurent Casanova, Laurent Abel. Proc Natl Acad Sci U S A 2015
243
3

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Darío G Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M Opitz, Renata Laxova,[...]. Cell 2015
896
3


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.