Variants of Uncertain Significance and "Missing Pathogenicity"

被引：12

作者：

Fatkin, Diane ^{[1
,2
,3
]}

Johnson, Renee ^{[1
]}

机构：

[1] Victor Chang Cardiac Res Inst, Cardiol Div, Darlinghurst, NSW, Australia

[2] St Vincents Hosp, Cardiol Dept, Darlinghurst, NSW, Australia

[3] UNSW Sydney, Fac Med, Kensington, NSW, Australia

来源：

JOURNAL OF THE AMERICAN HEART ASSOCIATION | 2020年 / 9卷 / 03期

关键词：

Editorials; genetics; human; DILATED CARDIOMYOPATHY; MEDICAL GENETICS; AMERICAN-COLLEGE; EXOME;

D O I：

10.1161/JAHA.119.015588

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页数：3

共 19 条

[1]

Ackerman MJ, HRS/EHRA expert consensus

[2]

Cotton RGH, 1998, HUM MUTAT, V12, P1, DOI 10.1002/(SICI)1098-1004(1998)12:1<1::AID-HUMU1>3.0.CO

[3]

2-M

[4] Precision Medicine in the Management of Dilated Cardiomyopathy JACC State-of-the-Art Review [J].

Fatkin, Diane ;

Huttner, Inken G. ;

Kovacic, Jason C. ;

Seidman, J. G. ;

Seidman, Christine E. .

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2019, 74 (23) :2921-2938

[5] A MOLECULAR-BASIS FOR FAMILIAL HYPERTROPHIC CARDIOMYOPATHY - A BETA-CARDIAC MYOSIN HEAVY-CHAIN GENE MISSENSE MUTATION [J].

GEISTERFERLOWRANCE, AAT ;

KASS, S ;

TANIGAWA, G ;

VOSBERG, HP ;

MCKENNA, W ;

SEIDMAN, CE ;

SEIDMAN, JG .

CELL, 1990, 62 (05) :999-1006

[6] Population-Based Variation in Cardiomyopathy Genes [J].

Golbus, Jessica R. ;

Puckelwartz, Megan J. ;

Fahrenbach, John P. ;

Dellefave-Castillo, Lisa M. ;

Wolfgeher, Don ;

McNally, Elizabeth M. .

CIRCULATION-CARDIOVASCULAR GENETICS, 2012, 5 (04) :391-399

[7] Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating Variants [J].

Haggerty, Christopher M. ;

Damrauer, Scott M. ;

Levin, Michael G. ;

Birtwell, David ;

Carey, David J. ;

Golden, Alicia M. ;

Hartzel, Dustin N. ;

Hu, Yirui ;

Judy, Renae ;

Kelly, Melissa A. ;

Kember, Rachel L. ;

Kirchner, H. Lester ;

Leader, Joseph B. ;

Liang, Lusha ;

McDermott-Roe, Chris ;

Babu, Apoorva ;

Morley, Michael ;

Nealy, Zachariah ;

Person, Thomas N. ;

Pulenthiran, Arichanah ;

Small, Aeron ;

Smelser, Diane T. ;

Stahl, Richard C. ;

Sturm, Amy C. ;

Williams, Heather ;

Baras, Aris ;

Margulies, Kenneth B. ;

Cappola, Thomas P. ;

Dewey, Frederick E. ;

Verma, Anurag ;

Zhang, Xinyuang ;

Correa, Adolfo ;

Hall, Michael E. ;

Wilson, James G. ;

Ritchie, Marylyn D. ;

Rader, Daniel J. ;

Murray, Michael F. ;

Fornwalt, Brandon K. ;

Arany, Zoltan .

CIRCULATION, 2019, 140 (01) :42-54

[8] Truncations of Titin Causing Dilated Cardiomyopathy [J].

Herman, Daniel S. ;

Lam, Lien ;

Taylor, Matthew R. G. ;

Wang, Libin ;

Teekakirikul, Polakit ;

Christodoulou, Danos ;

Conner, Lauren ;

DePalma, Steven R. ;

McDonough, Barbara ;

Sparks, Elizabeth ;

Teodorescu, Debbie Lin ;

Cirino, Allison L. ;

Banner, Nicholas R. ;

Pennell, Dudley J. ;

Graw, Sharon ;

Merlo, Marco ;

Di Lenarda, Andrea ;

Sinagra, Gianfranco ;

Bos, J. Martijn ;

Ackerman, Michael J. ;

Mitchell, Richard N. ;

Murry, Charles E. ;

Lakdawala, Neal K. ;

Ho, Carolyn Y. ;

Barton, Paul J. R. ;

Cook, Stuart A. ;

Mestroni, Luisa ;

Seidman, J. G. ;

Seidman, Christine E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (07) :619-628

[9] 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 [J].

Kalia, Sarah S. ;

Adelman, Kathy ;

Bale, Sherri J. ;

Chung, Wendy K. ;

Eng, Christine ;

Evans, James P. ;

Herman, Gail E. ;

Hufnagel, Sophia B. ;

Klein, Teri E. ;

Korf, Bruce R. ;

McKelvey, Kent D. ;

Ormond, Kelly E. ;

Richards, C. Sue ;

Vlangos, Christopher N. ;

Watson, Michael ;

Martin, Christa L. ;

Miller, David T. .

GENETICS IN MEDICINE, 2017, 19 (02) :249-255

[10] ClinVar at five years: Delivering on the promise [J].

Landrum, Melissa J. ;

Kattman, Brandi L. .

HUMAN MUTATION, 2018, 39 (11) :1623-1630

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