Publications:

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.

European Journal Of Medical Research

Kalayinia, Samira S; Dalili, Mohammad M; Pourirahim, Maryam M; Maleki, Majid M; Mahdieh, Nejat N

Publication Date: 2023-01-12

Variant appearance in text: KCNQ1: W323X

PubMed Link: 36635780

Variant Present in the following documents:

• Main text
• 40001_2023_Article_984.pdf

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Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Bmc Cardiovascular Disorders

Raju, Hariharan H; Ware, James S JS; Skinner, Jonathan R JR; Hedley, Paula L PL; Arno, Gavin G; Love, Donald R DR; van der Werf, Christian C; Tfelt-Hansen, Jacob J; Winkel, Bo Gregers BG; Cohen, Marta C MC; Li, Xinzhong X; John, Shibu S; Sharma, Sanjay S; Jeffery, Steve S; Wilde, Arthur A M AAM; Christiansen, Michael M; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2019-07-23

Variant appearance in text: KCNQ1: W323*; rs794728567

PubMed Link: 31337358

Variant Present in the following documents:

• Main text
• 12872_2019_Article_1154.pdf
• 12872_2019_1154_MOESM1_ESM.pdf

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Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

Journal Of The American College Of Cardiology

Lahrouchi, Najim N; Raju, Hariharan H; Lodder, Elisabeth M EM; Papatheodorou, Efstathios E; Ware, James S JS; Papadakis, Michael M; Tadros, Rafik R; Cole, Della D; Skinner, Jonathan R JR; Crawford, Jackie J; Love, Donald R DR; Pua, Chee J CJ; Soh, Bee Y BY; Bhalshankar, Jaydutt D JD; Govind, Risha R; Tfelt-Hansen, Jacob J; Winkel, Bo G BG; van der Werf, Christian C; Wijeyeratne, Yanushi D YD; Mellor, Greg G; Till, Jan J; Cohen, Marta C MC; Tome-Esteban, Maria M; Sharma, Sanjay S; Wilde, Arthur A M AAM; Cook, Stuart A SA; Bezzina, Connie R CR; Sheppard, Mary N MN; Behr, Elijah R ER

Publication Date: 2017-05-02

Variant appearance in text: KCNQ1: W323X

PubMed Link: 28449774

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page