Publications:

Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ

Publication Date: 2021-07

Variant appearance in text: MYH7: 4499G>A; Arg1500Gln

PubMed Link: 33824501

Variant Present in the following documents:

• NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

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Publication Date: 2020-09

Variant appearance in text: MYH7: 4499G>A; Arg1500Gln

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: MYH7: 4499G>A; R1500Q

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Identification of sarcomeric variants in probands with a clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).

Journal Of Cardiovascular Electrophysiology

Murray, Brittney B; Hoorntje, Edgar T ET; Te Riele, Anneline S J M ASJM; Tichnell, Crystal C; van der Heijden, Jeroen F JF; Tandri, Harikrishna H; van den Berg, Maarten P MP; Jongbloed, Jan D H JDH; Wilde, Arthur A M AAM; Hauer, Richard N W RNW; Calkins, Hugh H; Judge, Daniel P DP; James, Cynthia A CA; van Tintelen, J Peter JP; Dooijes, Dennis D

Publication Date: 2018-07

Variant appearance in text: MYH7: 4499G>A; Arg1500Gln

PubMed Link: 29709087

Variant Present in the following documents:

• Main text
• JCE-29-1004.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH7: 4499G>A; Arg1500Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page