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: I31S; rs199472833

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics

, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ

Publication Date: 2021-12-01

Variant appearance in text: KCNH2: 92T>G; Ile31Ser

PubMed Link: 34570182

Variant Present in the following documents:

• jamapediatr-e213496-s003.xlsx, sheet 1
• jamapediatr-e213496-s003.xlsx, sheet 4

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A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

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

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: I31S

PubMed Link: 32475984

Variant Present in the following documents:

View BVdb publication page

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: LQT2: I31S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

View BVdb publication page

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Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.

Scientific Reports

Foo, Brian B; Barbier, Camille C; Guo, Kevin K; Vasantharuban, Jaminie J; Lukacs, Gergely L GL; Shrier, Alvin A

Publication Date: 2019-04-15

Variant appearance in text: LQT2: I31S

PubMed Link: 30988392

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42331.pdf

View BVdb publication page

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Identification of small-molecule ion channel modulators in C. elegans channelopathy models.

Nature Communications

Jiang, Qiang Q; Li, Kai K; Lu, Wen-Jing WJ; Li, Shuang S; Chen, Xin X; Liu, Xi-Juan XJ; Yuan, Jie J; Ding, Qiurong Q; Lan, Feng F; Cai, Shi-Qing SQ

Publication Date: 2018-09-26

Variant appearance in text: KCNH2: I31S

PubMed Link: 30258187

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6514.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT2: I31S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNH2: I31S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Getting to the heart of hERG K(+) channel gating.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai-Ann CA; Mann, Stefan A SA; Sadrieh, Arash A; Imtiaz, Mohammad M; Hill, Adam P AP; Vandenberg, Jamie I JI

Publication Date: 2015-06-15

Variant appearance in text: HERG: I31S

PubMed Link: 25820318

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of the cytoplasmic N-terminal Cap and Per-Arnt-Sim (PAS) domain in trafficking and stabilization of Kv11.1 channels.

The Journal Of Biological Chemistry

Ke, Ying Y; Hunter, Mark J MJ; Ng, Chai Ann CA; Perry, Matthew D MD; Vandenberg, Jamie I JI

Publication Date: 2014-05-16

Variant appearance in text: Kv11.1: I31S

PubMed Link: 24695734

Variant Present in the following documents:

• Main text

View BVdb publication page

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HERG potassium channel regulation by the N-terminal eag domain.

Cellular Signalling

Gustina, Ahleah S AS; Trudeau, Matthew C MC

Publication Date: 2012-08

Variant appearance in text: LQT2: I31S

PubMed Link: 22522181

Variant Present in the following documents:

• Main text

View BVdb publication page

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Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

Plos One

Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH

Publication Date: 2012

Variant appearance in text: HERG: I31S

PubMed Link: 22396785

Variant Present in the following documents:

• Main text
• pone.0032654.pdf

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT2: I31S

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

View BVdb publication page

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