A citation-based method for searching scientific literature

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, James T Bennett, David R Crosslin, Jane Ranchalis, Kelly L Jones, Elisabeth A Rosenthal, Ella R Jarvik, Andy Itsara, Emily H Turner, Daniel S Herman, Jennifer Schleit, Amber Burt, Seema M Jamal, Jenica L Abrudan, Andrew D Johnson, Laura K Conlin, Matthew C Dulik, Avni Santani, Danielle R Metterville, Melissa Kelly, Ann Katherine M Foreman, Kristy Lee, Kent D Taylor, Xiuqing Guo, Kristy Crooks, Lesli A Kiedrowski, Leslie J Raffel, Ora Gordon, Kalotina Machini, Robert J Desnick, Leslie G Biesecker, Steven A Lubitz, Surabhi Mulchandani, Greg M Cooper, Steven Joffe, C Sue Richards, Yaoping Yang, Jerome I Rotter, Stephen S Rich, Christopher J O'Donnell, Jonathan S Berg, Nancy B Spinner, James P Evans, Stephanie M Fullerton, Kathleen A Leppig, Robin L Bennett, Thomas Bird, Virginia P Sybert, William M Grady, Holly K Tabor, Jerry H Kim, Michael J Bamshad, Benjamin Wilfond, Arno G Motulsky, C Ronald Scott, Colin C Pritchard, Tom D Walsh, Wylie Burke, Wendy H Raskind, Peter Byers, Fuki M Hisama, Heidi Rehm, Debbie A Nickerson, Gail P Jarvik. Genome Res 2015
Times Cited: 215

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

Times Cited
  Times     Co-cited

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

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

Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing.
Layla Shahmirzadi, Elizabeth C Chao, Erika Palmaer, Melissa C Parra, Sha Tang, Kelly D Farwell Gonzalez. Genet Med 2014

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

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

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.
Kym Boycott, Taila Hartley, Shelin Adam, Francois Bernier, Karen Chong, Bridget A Fernandez, Jan M Friedman, Michael T Geraghty, Stacey Hume, Bartha M Knoppers,[...]. J Med Genet 2015

The cost-effectiveness of returning incidental findings from next-generation genomic sequencing.
Caroline S Bennette, Carlos J Gallego, Wylie Burke, Gail P Jarvik, David L Veenstra. Genet Med 2015

Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.
Michael P Mackley, Benjamin Fletcher, Michael Parker, Hugh Watkins, Elizabeth Ormondroyd. Genet Med 2017

Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James M J Lawlor,[...]. Genet Med 2018

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Ahmed A Alfares, Melissa A Kelly, Gregory McDermott, Birgit H Funke, Matthew S Lebo, Samantha B Baxter, Jun Shen, Heather M McLaughlin, Eugene H Clark, Larry J Babb,[...]. Genet Med 2015

MAGMA: generalized gene-set analysis of GWAS data.
Christiaan A de Leeuw, Joris M Mooij, Tom Heskes, Danielle Posthuma. PLoS Comput Biol 2015

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S Hruska, Helio A Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan,[...]. Hum Mutat 2018

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V Ball, Matthew Mort, Andrew D Phillips, Katy Shaw, Peter D Stenson, David N Cooper,[...]. Am J Hum Genet 2012

The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.
David J Carey, Samantha N Fetterolf, F Daniel Davis, William A Faucett, H Lester Kirchner, Uyenlinh Mirshahi, Michael F Murray, Diane T Smelser, Glenn S Gerhard, David H Ledbetter. Genet Med 2016

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware. J Card Fail 2018

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

Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
S Mohsen Hosseini, Raymond Kim, Sharmila Udupa, Gregory Costain, Rebekah Jobling, Eriskay Liston, Seema M Jamal, Marta Szybowska, Chantal F Morel, Sarah Bowdin,[...]. Circulation 2018

Secondary findings and carrier test frequencies in a large multiethnic sample.
Tomasz Gambin, Shalini N Jhangiani, Jennifer E Below, Ian M Campbell, Wojciech Wiszniewski, Donna M Muzny, Jeffrey Staples, Alanna C Morrison, Matthew N Bainbridge, Samantha Penney,[...]. Genome Med 2015

Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies.
Seunggeun Lee, Mary J Emond, Michael J Bamshad, Kathleen C Barnes, Mark J Rieder, Deborah A Nickerson, David C Christiani, Mark M Wurfel, Xihong Lin. Am J Hum Genet 2012

Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies.
Mike A Nalls, Cornelis Blauwendraat, Costanza L Vallerga, Karl Heilbron, Sara Bandres-Ciga, Diana Chang, Manuela Tan, Demis A Kia, Alastair J Noyce, Angli Xue,[...]. Lancet Neurol 2019

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018

Building the foundation for genomics in precision medicine.
Samuel J Aronson, Heidi L Rehm. Nature 2015

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

Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.
Carla G van El, Martina C Cornel, Pascal Borry, Ros J Hastings, Florence Fellmann, Shirley V Hodgson, Heidi C Howard, Anne Cambon-Thomsen, Bartha M Knoppers, Hanne Meijers-Heijboer,[...]. Eur J Hum Genet 2013

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Ségolène Aymé, Detlef Bockenhauer, Simon Day, Olivier Devuyst, Lisa M Guay-Woodford, Julie R Ingelfinger, Jon B Klein, Nine V A M Knoers, Ronald D Perrone, Julia Roberts,[...]. Kidney Int 2017

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

Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Xin C Ye, Lin-Hua Zhang, Amit P Bhavsar, Jessica J Y Lee, Britt I Drögemöller,[...]. N Engl J Med 2016

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.
D Williams Parsons, Angshumoy Roy, Yaping Yang, Tao Wang, Sarah Scollon, Katie Bergstrom, Robin A Kerstein, Stephanie Gutierrez, Andrea K Petersen, Abhishek Bavle,[...]. JAMA Oncol 2016

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lauren Lawrence, Murat Sincan, Thomas Markello, David R Adams, Fred Gill, Rena Godfrey, Gretchen Golas, Catherine Groden, Dennis Landis, Michele Nehrebecky,[...]. Genet Med 2014

Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases.
A J Hughes, S E Daniel, L Kilford, A J Lees. J Neurol Neurosurg Psychiatry 1992

Second-generation PLINK: rising to the challenge of larger and richer datasets.
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015

A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
Diana Chang, Mike A Nalls, Ingileif B Hallgrímsdóttir, Julie Hunkapiller, Marcel van der Brug, Fang Cai, Geoffrey A Kerchner, Gai Ayalon, Baris Bingol, Morgan Sheng,[...]. Nat Genet 2017

Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010

Towards a European consensus for reporting incidental findings during clinical NGS testing.
Jayne Y Hehir-Kwa, Mireille Claustres, Ros J Hastings, Conny van Ravenswaaij-Arts, Gabrielle Christenhusz, Maurizio Genuardi, Béla Melegh, Anne Cambon-Thomsen, Philippos Patsalis, Joris Vermeesch,[...]. Eur J Hum Genet 2015

Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke, Armand H Matheny Antommaria, Robin Bennett, Jeffrey Botkin, Ellen Wright Clayton, Gail E Henderson, Ingrid A Holm, Gail P Jarvik, Muin J Khoury, Bartha Maria Knoppers,[...]. Genet Med 2013

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases.
Rong Chen, Lisong Shi, Jörg Hakenberg, Brian Naughton, Pamela Sklar, Jianguo Zhang, Hanlin Zhou, Lifeng Tian, Om Prakash, Mathieu Lemire,[...]. Nat Biotechnol 2016

Implementing genomic medicine in the clinic: the future is here.
Teri A Manolio, Rex L Chisholm, Brad Ozenberger, Dan M Roden, Marc S Williams, Richard Wilson, David Bick, Erwin P Bottinger, Murray H Brilliant, Charis Eng,[...]. Genet Med 2013

Reporting genomic secondary findings: ACMG members weigh in.
Maren T Scheuner, Jane Peredo, Judith Benkendorf, Bruce Bowdish, Gerald Feldman, Lynn Fleisher, John J Mulvihill, Michael Watson, Gail E Herman, James Evans. Genet Med 2015

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Jonathan S Berg, Laura M Amendola, Christine Eng, Eliezer Van Allen, Stacy W Gray, Nikhil Wagle, Heidi L Rehm, Elizabeth T DeChene, Matthew C Dulik, Fuki M Hisama,[...]. Genet Med 2013

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Jennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, David Ng, Larry N Singh, Jamie K Teer, James C Mullikin, Leslie G Biesecker. Am J Hum Genet 2012

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

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

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

Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, Sharon E Plon, Leslie G Biesecker. Hum Mutat 2018

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

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.