A citation-based method for searching scientific literature

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, Stephanie K Gandomi, Ira Lu, Xiang Li, Hong Lu, Hsiao-Mei Lu, David Salvador, David Ruble, Monica Lao, Soren Fischbach, Jennifer Wen, Shela Lee, Aaron Elliott, Charles L M Dunlop, Sha Tang. Genet Med 2015
Times Cited: 285







List of co-cited articles
528 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
47

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
37

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
36

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
31

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
28

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
18

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
174
14


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
14

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
13

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
316
13

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Zornitza Stark, Tiong Y Tan, Belinda Chong, Gemma R Brett, Patrick Yap, Maie Walsh, Alison Yeung, Heidi Peters, Dylan Mordaunt, Shannon Cowie,[...]. Genet Med 2016
190
12

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
132
11

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
11

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
100
11

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
201
11

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
961
11

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
18

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
10

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
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
10

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
124
9

The usefulness of whole-exome sequencing in routine clinical practice.
Alejandro Iglesias, Kwame Anyane-Yeboa, Julia Wynn, Ashley Wilson, Megan Truitt Cho, Edwin Guzman, Rebecca Sisson, Claire Egan, Wendy K Chung. Genet Med 2014
127
9

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff. Genet Med 2017
108
9

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K C Yuen, Michael J Szego,[...]. NPJ Genom Med 2016
165
9

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
9

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
619
9

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
117
9

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
9

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
8

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
166
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
89
8

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
8

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
309
7

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, Helger G Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B A de Vries, Marjolein H Willemsen, Tjitske Kleefstra, Katharina Löhner,[...]. Nat Neurosci 2016
219
7

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
7


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
7

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
311
7

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Sophie Nambot, Julien Thevenon, Paul Kuentz, Yannis Duffourd, Emilie Tisserant, Ange-Line Bruel, Anne-Laure Mosca-Boidron, Alice Masurel-Paulet, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Genet Med 2018
76
9

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
11

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018
126
7

Clinical whole exome sequencing in child neurology practice.
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
151
6

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, Tamar I de Vries, Karen J Duran, Jasper J van der Smagt, Paulien A Terhal, Peter M van Hasselt, Hester Y Kroes, Nanda M Verhoeven-Duif,[...]. Genet Med 2016
98
6

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Vandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, David B Goldstein. Genet Med 2014
153
6

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
Xiaolin Zhu, Slavé Petrovski, Pingxing Xie, Elizabeth K Ruzzo, Yi-Fan Lu, K Melodi McSweeney, Bruria Ben-Zeev, Andreea Nissenkorn, Yair Anikster, Danit Oz-Levi,[...]. Genet Med 2015
182
6

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
657
6

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

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
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
915
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.