A citation-based method for searching scientific literature

Elizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, Adam H Buchanan, Elizabeth V Clarke, Erin Currey, Orit Dagan-Rosenfeld, Kristy Lee, Noralane M Lindor, Christa Lese Martin, Aleksandar Milosavljevic, Kathleen F Mittendorf, Kristin R Muessig, Julianne M O'Daniel, Ronak Y Patel, Erin M Ramos, Shannon Rego, Anne M Slavotinek, Nara Lygia M Sobriera, Meredith A Weaver, Marc S Williams, James P Evans, Katrina A B Goddard. Hum Mutat 2018
Times Cited: 18







List of co-cited articles
73 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


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
902
72

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
50

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
50

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego,[...]. Am J Hum Genet 2014
252
22

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
218
22

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Jessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, Adam Buchanan, Brian Jensen, Kristy Lee, Christa Lese Martin, Laura Milko, Kristin Muessig, Annie D Niehaus,[...]. Genet Med 2016
55
22

A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Marci L B Schwartz, Cara Zayac McCormick, Amanda L Lazzeri, D'Andra M Lindbuchler, Miranda L G Hallquist, Kandamurugu Manickam, Adam H Buchanan, Alanna Kulchak Rahm, Monica A Giovanni, Lauren Frisbie,[...]. Am J Hum Genet 2018
69
22

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
M Ragan Hart, Barbara B Biesecker, Carrie L Blout, Kurt D Christensen, Laura M Amendola, Katie L Bergstrom, Sawona Biswas, Kevin M Bowling, Kyle B Brothers, Laura K Conlin,[...]. Genet Med 2019
65
22

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, Christin D Collins, Soma Das, Joshua L Deignan, Kathryn B Garber, John Garcia, Olga Jarinova, Amy E Knight Johnson,[...]. Hum Mutat 2018
26
16

Managing incidental findings and research results in genomic research involving biobanks and archived data sets.
Susan M Wolf, Brittney N Crock, Brian Van Ness, Frances Lawrenz, Jeffrey P Kahn, Laura M Beskow, Mildred K Cho, Michael F Christman, Robert C Green, Ralph Hall,[...]. Genet Med 2012
306
16

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
846
16

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
206
16

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
498
16

The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Laura M Amendola, Jonathan S Berg, Carol R Horowitz, Frank Angelo, Jeannette T Bensen, Barbara B Biesecker, Leslie G Biesecker, Gregory M Cooper, Kelly East, Kelly Filipski,[...]. Am J Hum Genet 2018
57
16

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
232
16

Technical report: Ethical and policy issues in genetic testing and screening of children.
Lainie Friedman Ross, Howard M Saal, Karen L David, Rebecca R Anderson. Genet Med 2013
263
16

Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families".
Benjamin S Wilfond, Conrad V Fernandez, Robert C Green. J Law Med Ethics 2015
32
16

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
Pradeep Natarajan, Nina B Gold, Alexander G Bick, Heather McLaughlin, Peter Kraft, Heidi L Rehm, Gina M Peloso, James G Wilson, Adolfo Correa, Jonathan G Seidman,[...]. Sci Transl Med 2016
38
16

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Cristopher V Van Hout, Ioanna Tachmazidou, Joshua D Backman, Joshua D Hoffman, Daren Liu, Ashutosh K Pandey, Claudia Gonzaga-Jauregui, Shareef Khalid, Bin Ye, Nilanjana Banerjee,[...]. Nature 2020
106
16

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Caroline F Wright, Ben West, Marcus Tuke, Samuel E Jones, Kashyap Patel, Thomas W Laver, Robin N Beaumont, Jessica Tyrrell, Andrew R Wood, Timothy M Frayling,[...]. Am J Hum Genet 2019
74
16


A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing.
Stephen E Lincoln, Rebecca Truty, Chiao-Feng Lin, Justin M Zook, Joshua Paul, Vincent H Ramey, Marc Salit, Heidi L Rehm, Robert L Nussbaum, Matthew S Lebo. J Mol Diagn 2019
23
16

Can I be sued for that? Liability risk and the disclosure of clinically significant genetic research findings.
Amy L McGuire, Bartha Maria Knoppers, Ma'n H Zawati, Ellen Wright Clayton. Genome Res 2014
21
11

Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.
Danya F Vears, Emilia Niemiec, Heidi Carmen Howard, Pascal Borry. Eur J Hum Genet 2018
35
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
65
11

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
65
11

Automatic Placement of Genomic Research Results in Medical Records: Do Researchers Have a Duty? Should Participants Have a Choice?
Anya E R Prince, John M Conley, Arlene M Davis, Gabriel Lázaro-Muñoz, R Jean Cadigan. J Law Med Ethics 2015
9
22

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Matthew S Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D Speevak, John S Waye, Elizabeth McCready, Jillian S Parboosingh, Ryan E Lamont, Harriet Feilotter, Ian Bosdet,[...]. Genet Med 2018
20
11

Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss,[...]. Eur J Hum Genet 2016
248
11

Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group.
Richard R Fabsitz, Amy McGuire, Richard R Sharp, Mona Puggal, Laura M Beskow, Leslie G Biesecker, Ebony Bookman, Wylie Burke, Esteban Gonzalez Burchard, George Church,[...]. Circ Cardiovasc Genet 2010
285
11

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
139
11

Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Gabrielle Mettler, Jean McGowan-Jordan, Liz Sinclair-Bourque, Amanda Smith, Olga Jarinova. Genet Med 2018
18
11


Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Amit V Khera, Mark Chaffin, Krishna G Aragam, Mary E Haas, Carolina Roselli, Seung Hoan Choi, Pradeep Natarajan, Eric S Lander, Steven A Lubitz, Patrick T Ellinor,[...]. Nat Genet 2018
946
11

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
287
11

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
188
11

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
Stefan H Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A Veltman, Christian Gilissen. Hum Mutat 2015
93
11

The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics.
Alice B Popejoy, Deborah I Ritter, Kristy Crooks, Erin Currey, Stephanie M Fullerton, Lucia A Hindorff, Barbara Koenig, Erin M Ramos, Elena P Sorokin, Hannah Wand,[...]. Hum Mutat 2018
47
11

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
11

Workload measurement for molecular genetics laboratory: A survey study.
Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D'Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo,[...]. PLoS One 2018
5
40

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Andrew M Gross, Subramanian S Ajay, Vani Rajan, Carolyn Brown, Krista Bluske, Nicole J Burns, Aditi Chawla, Alison J Coffey, Alka Malhotra, Alicia Scocchia,[...]. Genet Med 2019
47
11

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
201
11

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
129
11

What is the clinical utility of genetic testing?
Scott D Grosse, Muin J Khoury. Genet Med 2006
180
11

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.
David Bick, Pamela C Fraser, Michael F Gutzeit, Jeremy M Harris, Tina M Hambuch, Daniel C Helbling, Howard J Jacob, Juliet N Kersten, Steven R Leuthner, Thomas May,[...]. J Pediatr Genet 2017
38
11

Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
138
11

Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy.
Betsy E P Ostrander, Russell J Butterfield, Brent S Pedersen, Andrew J Farrell, Ryan M Layer, Alistair Ward, Chase Miller, Tonya DiSera, Francis M Filloux, Meghan S Candee,[...]. NPJ Genom Med 2018
42
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
676
11

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
139
11

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Caroline E Walker, Trinity Mahede, Geoff Davis, Laura J Miller, Jennifer Girschik, Kate Brameld, Wenxing Sun, Ana Rath, Ségolène Aymé, Stephen R Zubrick,[...]. Genet Med 2017
46
11


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.