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, Christine E Seidman, Sekar Kathiresan, Robert C Green. Sci Transl Med 2016
Times Cited: 38
Times Cited: 38
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
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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
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
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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
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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
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Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett,[...]. Am J Hum Genet 2013
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Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui,[...]. Science 2016
Frederick E Dewey, Michael F Murray, John D Overton, Lukas Habegger, Joseph B Leader, Samantha N Fetterolf, Colm O'Dushlaine, Cristopher V Van Hout, Jeffrey Staples, Claudia Gonzaga-Jauregui,[...]. Science 2016
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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone,[...]. PLoS One 2015
Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone,[...]. PLoS One 2015
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Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
Sara L Van Driest, Quinn S Wells, Sarah Stallings, William S Bush, Adam Gordon, Deborah A Nickerson, Jerry H Kim, David R Crosslin, Gail P Jarvik, David S Carrell,[...]. JAMA 2016
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ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
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ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
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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
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ClinGen--the Clinical Genome Resource.
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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
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Genetic identification of familial hypercholesterolemia within a single U.S. health care system.
Noura S Abul-Husn, Kandamurugu Manickam, Laney K Jones, Eric A Wright, Dustin N Hartzel, Claudia Gonzaga-Jauregui, Colm O'Dushlaine, Joseph B Leader, H Lester Kirchner, D'Andra M Lindbuchler,[...]. Science 2016
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Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification.
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Genetic Misdiagnoses and the Potential for Health Disparities.
Arjun K Manrai, Birgit H Funke, Heidi L Rehm, Morten S Olesen, Bradley A Maron, Peter Szolovits, David M Margulies, Joseph Loscalzo, Isaac S Kohane. N Engl J Med 2016
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The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.
Jason L Vassy, Kurt D Christensen, Erica F Schonman, Carrie L Blout, Jill O Robinson, Joel B Krier, Pamela M Diamond, Matthew Lebo, Kalotina Machini, Danielle R Azzariti,[...]. Ann Intern Med 2017
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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
Rong Chen, Lisong Shi, Jörg Hakenberg, Brian Naughton, Pamela Sklar, Jianguo Zhang, Hanlin Zhou, Lifeng Tian, Om Prakash, Mathieu Lemire,[...]. Nat Biotechnol 2016
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The incidentalome: a threat to genomic medicine.
Isaac S Kohane, Daniel R Masys, Russ B Altman. JAMA 2006
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Recommendations for returning genomic incidental findings? We need to talk!
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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
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
David N Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki. Hum Genet 2013
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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
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Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.
Mi-Ae Jang, Sang-Heon Lee, Namshin Kim, Chang-Seok Ki. Genet Med 2015
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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
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Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Clara Sze-Man Tang, Saloni Dattani, Man-Ting So, Stacey S Cherny, Paul K H Tam, Pak C Sham, Maria-Mercè Garcia-Barcelo. Hum Genet 2018
Clara Sze-Man Tang, Saloni Dattani, Man-Ting So, Stacey S Cherny, Paul K H Tam, Pak C Sham, Maria-Mercè Garcia-Barcelo. Hum Genet 2018
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Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Kandamurugu Manickam, Adam H Buchanan, Marci L B Schwartz, Miranda L G Hallquist, Janet L Williams, Alanna Kulchak Rahm, Heather Rocha, Juliann M Savatt, Alyson E Evans, Loren M Butry,[...]. JAMA Netw Open 2018
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The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.
Jason L Vassy, Denise M Lautenbach, Heather M McLaughlin, Sek Won Kong, Kurt D Christensen, Joel Krier, Isaac S Kohane, Lindsay Z Feuerman, Jennifer Blumenthal-Barby, J Scott Roberts,[...]. Trials 2014
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7
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
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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
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
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Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice.
Myra I Roche, Jonathan S Berg. Curr Genet Med Rep 2015
Myra I Roche, Jonathan S Berg. Curr Genet Med Rep 2015
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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
Michael P Mackley, Benjamin Fletcher, Michael Parker, Hugh Watkins, Elizabeth Ormondroyd. Genet Med 2017
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Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time.
Jonathan S Berg, Muin J Khoury, James P Evans. Genet Med 2011
Jonathan S Berg, Muin J Khoury, James P Evans. Genet Med 2011
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Integration of 60,000 exomes and ACMG guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia-associated variants.
C Paludan-Müller, G Ahlberg, J Ghouse, C Herfelt, J H Svendsen, S Haunsø, J K Kanters, M S Olesen. Clin Genet 2017
C Paludan-Müller, G Ahlberg, J Ghouse, C Herfelt, J H Svendsen, S Haunsø, J K Kanters, M S Olesen. Clin Genet 2017
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The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
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InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines.
Quan Li, Kai Wang. Am J Hum Genet 2017
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
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HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.
Silvia G Priori, Arthur A Wilde, Minoru Horie, Yongkeun Cho, Elijah R Behr, Charles Berul, Nico Blom, Josep Brugada, Chern-En Chiang, Heikki Huikuri,[...]. Heart Rhythm 2013
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Clinical interpretation and implications of whole-genome sequencing.
Frederick E Dewey, Megan E Grove, Cuiping Pan, Benjamin A Goldstein, Jonathan A Bernstein, Hassan Chaib, Jason D Merker, Rachel L Goldfeder, Gregory M Enns, Sean P David,[...]. JAMA 2014
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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
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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
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Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?
Saumya Shekhar Jamuar, Jyn Ling Kuan, Maggie Brett, Zenia Tiang, Wilson Lek Wen Tan, Jiin Ying Lim, Wendy Kein Meng Liew, Asif Javed, Woei Kang Liew, Hai Yang Law,[...]. EBioMedicine 2016
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Million Veteran Program: A mega-biobank to study genetic influences on health and disease.
John Michael Gaziano, John Concato, Mary Brophy, Louis Fiore, Saiju Pyarajan, James Breeling, Stacey Whitbourne, Jennifer Deen, Colleen Shannon, Donald Humphries,[...]. J Clin Epidemiol 2016
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Robert C Green, Katrina A B Goddard, Gail P Jarvik, Laura M Amendola, Paul S Appelbaum, Jonathan S Berg, Barbara A Bernhardt, Leslie G Biesecker, Sawona Biswas, Carrie L Blout,[...]. Am J Hum Genet 2016
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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
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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
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Fast and accurate short read alignment with Burrows-Wheeler transform.
Heng Li, Richard Durbin. Bioinformatics 2009
Heng Li, Richard Durbin. Bioinformatics 2009
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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
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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
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7
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.