A citation-based method for searching scientific literature

Vandana Shashi, Kelly Schoch, Rebecca Spillmann, Heidi Cope, Queenie K-G Tan, Nicole Walley, Loren Pena, Allyn McConkie-Rosell, Yong-Hui Jiang, Nicholas Stong, Anna C Need, David B Goldstein. Genet Med 2019
Times Cited: 33







List of co-cited articles
183 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
54

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
33

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
72
27

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
203
24

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
24

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
24

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
21

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
192
21

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
114
21

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
Ahmed Alfares, Taghrid Aloraini, Lamia Al Subaie, Abdulelah Alissa, Ahmed Al Qudsi, Ahmed Alahmad, Fuad Al Mutairi, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid,[...]. Genet Med 2018
60
21

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
21

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
18

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
18

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
84
18

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
18

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, Neeharika Nori, Jill A Madden, Casie A Genetti, Monica H Wojcik, Sadhana Ponnaluri, Cynthia S Gubbels, Jonathan D Picker,[...]. Eur J Hum Genet 2019
22
27

The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Michael Brudno, Han G Brunner, Orion J Buske, Knox Carey, Cassie Doll,[...]. Hum Mutat 2015
231
15

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
15

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Kevin S Smith, Devon Bonner, Kristin D Kernohan, Shruti Marwaha, Zachary Zappala,[...]. Nat Med 2019
78
15

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
15

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
15

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
292
15

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
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
15

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
148
15

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
174
15

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases.
Hane Lee, Alden Y Huang, Lee-Kai Wang, Amanda J Yoon, Genecee Renteria, Ascia Eskin, Rebecca H Signer, Naghmeh Dorrani, Shirley Nieves-Rodriguez, Jijun Wan,[...]. Genet Med 2020
37
15

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Josh E Petrikin, Julie A Cakici, Michelle M Clark, Laurel K Willig, Nathaly M Sweeney, Emily G Farrow, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Lee Zellmer,[...]. NPJ Genom Med 2018
84
12

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
115
12

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
12

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Maryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, Adila Al-Kindi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Fahad Zadjali, Almundher Al-Maawali. Clin Genet 2018
27
14

Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Laurel K Willig, Josh E Petrikin, Laurie D Smith, Carol J Saunders, Isabelle Thiffault, Neil A Miller, Sarah E Soden, Julie A Cakici, Suzanne M Herd, Greyson Twist,[...]. Lancet Respir Med 2015
187
12

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
381
12

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Lina Basel-Salmon, Naama Orenstein, Keren Markus-Bustani, Noa Ruhrman-Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak. Genet Med 2019
31
12

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
David Bick, Marilyn Jones, Stacie L Taylor, Ryan J Taft, John Belmont. J Med Genet 2019
32
12

Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Zornitza Stark, Sebastian Lunke, Gemma R Brett, Natalie B Tan, Rachel Stapleton, Smitha Kumble, Alison Yeung, Dean G Phelan, Belinda Chong, Miriam Fanjul-Fernandez,[...]. Genet Med 2018
72
9

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Rachel B Ramoni, John J Mulvihill, David R Adams, Patrick Allard, Euan A Ashley, Jonathan A Bernstein, William A Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T McCray,[...]. Am J Hum Genet 2017
80
9

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Rebecca Truty, Joshua Paul, Michael Kennemer, Stephen E Lincoln, Eric Olivares, Robert L Nussbaum, Swaroop Aradhya. Genet Med 2019
59
9

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
275
9

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra,[...]. Genet Med 2018
26
11

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Hanan E Shamseldin, Sateesh Maddirevula, Eissa Faqeih, Niema Ibrahim, Mais Hashem, Ranad Shaheen, Fowzan S Alkuraya. Genet Med 2017
39
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

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Michelle M Clark, Amber Hildreth, Sergey Batalov, Yan Ding, Shimul Chowdhury, Kelly Watkins, Katarzyna Ellsworth, Brandon Camp, Cyrielle I Kint, Calum Yacoubian,[...]. Sci Transl Med 2019
81
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
9


Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
528
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

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
9

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
9

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Gareth Baynam, Anthony J Brookes, Michael Brudno, Angel Carracedo, Johan T den Dunnen,[...]. Am J Hum Genet 2017
156
9


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.