Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: 490C>T

PubMed Link: 37324772

Variant Present in the following documents:

• Main text

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: KCNH2: R164C

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics

Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D

Publication Date: 2019

Variant appearance in text: KCNH2: R164C

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

View BVdb publication page

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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNH2: Arg164Cys

PubMed Link: 31315195

Variant Present in the following documents:

• Main text
• jcm-08-01035.pdf

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Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Forensic Sciences Research

Wu, Yeda Y; Ai, Mei M; Bardeesi, Adham Sameer A ASA; Xu, Lunwu L; Zheng, Jingjing J; Zheng, Da D; Yin, Kun K; Wu, Qiuping Q; Zhang, Liyong L; Huang, Lei L; Cheng, Jianding J

Publication Date: 2017

Variant appearance in text: KCNH2: R164C

PubMed Link: 30483629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: KCNH2: R164C

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

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Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Translational Oncology

Park, Jeong Hwan JH; Lee, Cheol C; Chang, Mee Soo MS; Kim, Kwangsoo K; Choi, Seongmin S; Lee, Hyunjung H; Lee, Hyun-Seob HS; Moon, Kyung Chul KC

Publication Date: 2018-08

Variant appearance in text: KCNH2: 490C>T; R164C

PubMed Link: 29925043

Variant Present in the following documents:

• mmc3.xlsx, sheet 7

View BVdb publication page

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Genetics of Brugada syndrome.

Journal Of Arrhythmia

Juang, Jyh-Ming Jimmy JJ; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNH2: R164C

PubMed Link: 27761167

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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