A citation-based method for searching scientific literature

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, A Paul Bevan, Eugene Bragin, Eleni A Chatzimichali, Susan Gribble, Philip Jones, Netravathi Krishnappa, Laura E Mason, Ray Miller, Katherine I Morley, Vijaya Parthiban, Elena Prigmore, Diana Rajan, Alejandro Sifrim, G Jawahar Swaminathan, Adrian R Tivey, Anna Middleton, Michael Parker, Nigel P Carter, Jeffrey C Barrett, Matthew E Hurles, David R FitzPatrick, Helen V Firth. Lancet 2015
Times Cited: 381







List of co-cited articles
611 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

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



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
15

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
13

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W FitzGerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord,[...]. Genet Med 2018
128
12

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
819
12

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
157
11

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
11

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
612
11

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
641
11

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
458
11

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
174
10

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
987
10

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Mari E K Niemi, Hilary C Martin, Daniel L Rice, Giuseppe Gallone, Scott Gordon, Martin Kelemen, Kerrie McAloney, Jeremy McRae, Elizabeth J Radford, Sui Yu,[...]. Nature 2018
113
10

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
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
567
9

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
842
9

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
9

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
9

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sarah E Soden, Carol J Saunders, Laurel K Willig, Emily G Farrow, Laurie D Smith, Josh E Petrikin, Jean-Baptiste LePichon, Neil A Miller, Isabelle Thiffault, Darrell L Dinwiddie,[...]. Sci Transl Med 2014
319
8

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
8

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
8

Genomic diagnosis for children with intellectual disability and/or developmental delay.
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
99
8

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
8

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
7


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
6

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Nick Dragojlovic, Alison M Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill C Mwenifumbo, Tanya N Nelson, Christèle du Souich, Jan M Friedman, Larry D Lynd. Genet Med 2018
41
14

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
146
6

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017
140
6

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu,[...]. JAMA Pediatr 2017
189
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
181
6

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
328
6

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
6

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
E Chérot, B Keren, C Dubourg, W Carré, M Fradin, A Lavillaureix, A Afenjar, L Burglen, S Whalen, P Charles,[...]. Clin Genet 2018
51
11


Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
J Thevenon, Y Duffourd, A Masurel-Paulet, M Lefebvre, F Feillet, S El Chehadeh-Djebbar, J St-Onge, A Steinmetz, F Huet, M Chouchane,[...]. Clin Genet 2016
122
6

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
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
909
6

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
112
6

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
820
6

A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,[...]. Nat Genet 2014
526
6

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
6

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
935
6

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
166
6

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
134
6


A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Dagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, Sabine Steiner-Haldenstätt, Esther Pohl, Yun Li, Esther Milz, Marcel Martin, Holger Thiele, Janine Altmüller,[...]. Hum Mol Genet 2013
125
6


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.