Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield, Jan D H Jongbloed, Daniela Macaya, Arjun Manrai, Kate Orland, Gabriele Richard, Katherine Spoonamore, Matthew Thomas, Kate Thomson, Lisa M Vincent, Roddy Walsh, Hugh Watkins, Nicola Whiffin, Jodie Ingles, J Peter van Tintelen, Christopher Semsarian, James S Ware, Ray Hershberger, Birgit Funke. Genet Med 2018
Times Cited: 150
Times Cited: 150
Times Cited
Times Co-cited
Similarity
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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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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Roddy Walsh, Kate L Thomson, James S Ware, Birgit H Funke, Jessica Woodley, Karen J McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C Taylor,[...]. Genet Med 2017
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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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ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
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ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
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Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
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Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy.
Richard D Bagnall, Jodie Ingles, Marcel E Dinger, Mark J Cowley, Samantha Barratt Ross, André E Minoche, Sean Lal, Christian Turner, Alison Colley, Sulekha Rajagopalan,[...]. J Am Coll Cardiol 2018
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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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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
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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
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Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
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. Genet Med 2018
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. Genet Med 2018
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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
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
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Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll,[...]. Circ Cardiovasc Genet 2017
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll,[...]. Circ Cardiovasc Genet 2017
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New perspectives on the prevalence of hypertrophic cardiomyopathy.
Christopher Semsarian, Jodie Ingles, Martin S Maron, Barry J Maron. J Am Coll Cardiol 2015
Christopher Semsarian, Jodie Ingles, Martin S Maron, Barry J Maron. J Am Coll Cardiol 2015
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman,[...]. Hum Mutat 2018
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman,[...]. Hum Mutat 2018
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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
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
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REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
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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
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
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CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation.
Nicola Whiffin, Roddy Walsh, Risha Govind, Matthew Edwards, Mian Ahmad, Xiaolei Zhang, Upasana Tayal, Rachel Buchan, William Midwinter, Alicja E Wilk,[...]. Genet Med 2018
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Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.
Jipin Das K, Jodie Ingles, Richard D Bagnall, Christopher Semsarian. Genet Med 2014
Jipin Das K, Jodie Ingles, Richard D Bagnall, Christopher Semsarian. Genet Med 2014
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The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Trevor J Pugh, Melissa A Kelly, Sivakumar Gowrisankar, Elizabeth Hynes, Michael A Seidman, Samantha M Baxter, Mark Bowser, Bryan Harrison, Daniel Aaron, Lisa M Mahanta,[...]. Genet Med 2014
Trevor J Pugh, Melissa A Kelly, Sivakumar Gowrisankar, Elizabeth Hynes, Michael A Seidman, Samantha M Baxter, Mark Bowser, Bryan Harrison, Daniel Aaron, Lisa M Mahanta,[...]. Genet Med 2014
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HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).
Michael J Ackerman, Silvia G Priori, Stephan Willems, Charles Berul, Ramon Brugada, Hugh Calkins, A John Camm, Patrick T Ellinor, Michael Gollob, Robert Hamilton,[...]. Heart Rhythm 2011
Michael J Ackerman, Silvia G Priori, Stephan Willems, Charles Berul, Ramon Brugada, Hugh Calkins, A John Camm, Patrick T Ellinor, Michael Gollob, Robert Hamilton,[...]. Heart Rhythm 2011
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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
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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The ACMG/AMP reputable source criteria for the interpretation of sequence variants.
Leslie G Biesecker, Steven M Harrison. Genet Med 2018
Leslie G Biesecker, Steven M Harrison. Genet Med 2018
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, Garry R Cutting, Marc S Greenblatt, Christopher D Heinen, Dona M Kanavy, Xi Luo, Shannon M McNulty, Lea M Starita,[...]. Genome Med 2019
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Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Francesco Mazzarotto, Upasana Tayal, Rachel J Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio de Marvao, Timothy J W Dawes,[...]. Circulation 2020
Francesco Mazzarotto, Upasana Tayal, Rachel J Buchan, William Midwinter, Alicja Wilk, Nicola Whiffin, Risha Govind, Erica Mazaika, Antonio de Marvao, Timothy J W Dawes,[...]. Circulation 2020
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Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy.
Jodie Ingles, Tanya Sarina, Laura Yeates, Lauren Hunt, Ivan Macciocca, Louise McCormack, Ingrid Winship, Julie McGaughran, John Atherton, Christopher Semsarian. Genet Med 2013
Jodie Ingles, Tanya Sarina, Laura Yeates, Lauren Hunt, Ivan Macciocca, Louise McCormack, Ingrid Winship, Julie McGaughran, John Atherton, Christopher Semsarian. Genet Med 2013
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Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares,[...]. J Am Coll Cardiol 2016
Martín F Ortiz-Genga, Sofía Cuenca, Matteo Dal Ferro, Esther Zorio, Ricardo Salgado-Aranda, Vicente Climent, Laura Padrón-Barthe, Iria Duro-Aguado, Juan Jiménez-Jáimez, Víctor M Hidalgo-Olivares,[...]. J Am Coll Cardiol 2016
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Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind,[...]. Genome Med 2019
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind,[...]. Genome Med 2019
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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
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
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Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.
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A Prospective Study of Sudden Cardiac Death among Children and Young Adults.
Richard D Bagnall, Robert G Weintraub, Jodie Ingles, Johan Duflou, Laura Yeates, Lien Lam, Andrew M Davis, Tina Thompson, Vanessa Connell, Jennie Wallace,[...]. N Engl J Med 2016
Richard D Bagnall, Robert G Weintraub, Jodie Ingles, Johan Duflou, Laura Yeates, Lien Lam, Andrew M Davis, Tina Thompson, Vanessa Connell, Jennie Wallace,[...]. N Engl J Med 2016
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Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants.
Gail P Jarvik, Brian L Browning. Am J Hum Genet 2016
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Truncations of titin causing dilated cardiomyopathy.
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ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C Porter, Sarah A Jackson, Sioban Keel, Michael Chicka, Anna L Brown, Chimene Kesserwan, Anupriya Agarwal,[...]. Blood Adv 2019
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A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.
Allison L Cirino, Neal K Lakdawala, Barbara McDonough, Lauren Conner, Dale Adler, Mark Weinfeld, Patrick O'Gara, Heidi L Rehm, Kalotina Machini, Matthew Lebo,[...]. Circ Cardiovasc Genet 2017
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Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
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Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
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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.