论文信息 - Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies - 字舞流文

Adaptation and validation of the ACMG / AMP variant classification framework for MYH 7-associated inherited cardiomyopathies

Birgit Funke | Eden Haverfield | Ana Morales | Daniela Macaya | James S. Ware | Roddy Walsh | Nicola Whiffin | John Garcia | Stuart Cook | Christopher Semsarian | Mitchell W. Dillon | Colleen Caleshu | Mitchell W Dillon | Arjun Manrai | Kate Orland | Gabriele Richard | Katherine Spoonamore | Matthew Thomas | Ray Hershberger | Steven M. Harrison | C. Caleshu | S. Cook | J. Buchan | J. Ware | H. Watkins | D. Macaya | B. Funke | N. Whiffin | S. Harrison | John Garcia | R. Hershberger | C. Semsarian | J. Ingles | A. Manrai | G. Richard | J. Jongbloed | J. Tintelen | R. Walsh | K. Thomson | E. Haverfield | A. Morales | Hugh Watkins | L. Vincent | Jan D. H. Jongbloed | Lisa M. Vincent | Jodie Ingles | Kate Thomson | Jillian Buchan | Zena Wolf | J. Peter van Tintelen | Kate M Orland | Katherine G Spoonamore | Z. Wolf | Matthew Thomas | Kate M. Orland | Eden V. Haverfield | K. Thomson | Zena T. Wolf

[1] R. Nussbaum,et al. Modeling the ACMG/AMP Variant Classification Guidelines as a Bayesian Classification Framework , 2018, Genetics in Medicine.

[2] Vijai Joseph,et al. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing , 2016, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[3] D. MacArthur,et al. Using high-resolution variant frequencies to empower clinical genome interpretation , 2016, Genetics in Medicine.

[4] Matthew S. Lebo,et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. , 2016, American journal of human genetics.

[5] G. Jarvik,et al. Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants. , 2016, American journal of human genetics.

[6] C. Bustamante,et al. Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation , 2016, Proceedings of the National Academy of Sciences.

[7] Michael J Ackerman,et al. Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome. , 2016, Heart rhythm.

[8] D. MacArthur,et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples , 2016, Genetics in Medicine.

[9] S. Letovsky,et al. Exploring the landscape of pathogenic genetic variation in the ExAC population database: insights of relevance to variant classification , 2015, Genetics in Medicine.

[10] James Y. Zou. Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[11] J. Towbin,et al. Left ventricular non-compaction cardiomyopathy , 2015, The Lancet.

[12] Heidi L Rehm,et al. ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[13] P. Byers,et al. The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories , 2015, Genetics in Medicine.

[14] Barry J Maron,et al. New perspectives on the prevalence of hypertrophic cardiomyopathy. , 2015, Journal of the American College of Cardiology.

[15] Matthew S. Lebo,et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity , 2015, Genetics in Medicine.

[16] M. Marino,et al. BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS , 2014, Genetics in Medicine.

[17] D. G. MacArthur,et al. Guidelines for investigating causality of sequence variants in human disease , 2014, Nature.

[18] Sivakumar Gowrisankar,et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing , 2014, Genetics in Medicine.

[19] Trevor J Pugh,et al. A systematic approach to assessing the clinical significance of genetic variants , 2013, Clinical genetics.

[20] D. Hedges,et al. Dilated cardiomyopathy: the complexity of a diverse genetic architecture , 2013, Nature Reviews Cardiology.

[21] Michael J Ackerman,et al. Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. , 2010, Journal of the American College of Cardiology.

[22] Euan Ashley,et al. Insights into Human β-Cardiac Myosin Function from Single Molecule and Single Cell Studies , 2009, Journal of cardiovascular translational research.

[23] W. McKenna,et al. Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon? , 2008, Current opinion in cardiology.

[24] L. Køber,et al. One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region , 2005, European Journal of Human Genetics.

[25] Jonathan R. Weir-McCall,et al. Left Ventricular Noncompaction Anatomical Phenotype or Distinct Cardiomyopathy ? , 2016 .