Publications:

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Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology

Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM

Publication Date: 2022-09-01

Variant appearance in text: KCNH2: 2771G>A; Gly924Glu

PubMed Link: 35947370

Variant Present in the following documents:

• jamacardiol-e222455-s002.xlsx, sheet 1

View BVdb publication page

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Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding.

Frontiers In Pediatrics

Luo, Fang-Mei FM; Fan, Liang-Liang LL; Sheng, Yue Y; Dong, Yi Y; Liu, Lv L

Publication Date: 2021

Variant appearance in text: rs199473009

PubMed Link: 34222148

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Journal Of Advanced Research

Juang, Jyh-Ming Jimmy JJ; Lu, Tzu-Pin TP; Su, Ming-Wei MW; Lin, Chien-Wei CW; Yang, Jenn-Hwai JH; Chu, Hou-Wei HW; Chen, Chien-Hsiun CH; Hsiao, Yi-Wen YW; Lee, Chien-Yueh CY; Chiang, Li-Mei LM; Yu, Qi-You QY; Hsiao, Chuhsing Kate CK; Chen, Ching-Yu Julius CJ; Wu, Pei-Ei PE; Pai, Chien-Hua CH; Chuang, Eric Y EY; Shen, Chen-Yang CY

Publication Date: 2021-05

Variant appearance in text: rs199473009

PubMed Link: 34026292

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: KCNH2: 2771G>A; G924E

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: KCNH2: 2771G>A; Gly924Glu

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

View BVdb publication page

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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: KCNH2: 2771G>A; Gly924Glu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Catheter ablation for ventricular tachyarrhythmia in patients with channelopathies.

Journal Of Arrhythmia

Murakoshi, Nobuyuki N; Aonuma, Kazutaka K

Publication Date: 2016-10

Variant appearance in text: KCNH2: 2771G>A; Gly924Glu

PubMed Link: 27761165

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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