Publications:

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Automated Patch-Clamp and Induced Pluripotent Stem Cell-Derived Cardiomyocytes: A Synergistic Approach in the Study of Brugada Syndrome.

International Journal Of Molecular Sciences

Melgari, Dario D; Calamaio, Serena S; Frosio, Anthony A; Prevostini, Rachele R; Anastasia, Luigi L; Pappone, Carlo C; Rivolta, Ilaria I

Publication Date: 2023-04-03

Variant appearance in text: SCN5A: 2102C>T

PubMed Link: 37047659

Variant Present in the following documents:

• Main text
• ijms-24-06687.pdf

View BVdb publication page

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Patient-derived cells from recurrent tumors that model the evolution of IDH-mutant glioma.

Neuro-Oncology Advances

Jones, Lindsey E LE; Hilz, Stephanie S; Grimmer, Matthew R MR; Mazor, Tali T; Najac, Chloé C; Mukherjee, Joydeep J; McKinney, Andrew A; Chow, Tracy T; Pieper, Russell O RO; Ronen, Sabrina M SM; Chang, Susan M SM; Phillips, Joanna J JJ; Costello, Joseph F JF

Publication Date: 2020

Variant appearance in text: SCN5A: P701L

PubMed Link: 32904945

Variant Present in the following documents:

• vdaa088_suppl_supplementary_tables.xlsx, sheet 3

View BVdb publication page

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Predicting changes to INa from missense mutations in human SCN5A.

Scientific Reports

Clerx, Michael M; Heijman, Jordi J; Collins, Pieter P; Volders, Paul G A PGA

Publication Date: 2018-08-24

Variant appearance in text: SCN5A: P701L

PubMed Link: 30143662

Variant Present in the following documents:

• 41598_2018_30577_MOESM1_ESM.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs199473147

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: SCN5A: 2102C>T; Pro701Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: LQT3: P701L

PubMed Link: 28150151

Variant Present in the following documents:

• Main text
• 13238_2017_Article_372.pdf

View BVdb publication page

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Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: SCN5A: 2102C>T; Pro701Leu; rs199473147

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

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Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Circulation. Cardiovascular Genetics

Hoshi, Malcolm M; Du, Xi X XX; Shinlapawittayatorn, Krekwit K; Liu, Haiyan H; Chai, Sam S; Wan, Xiaoping X; Ficker, Eckhard E; Deschênes, Isabelle I

Publication Date: 2014-04

Variant appearance in text: SCN5A: P701L

PubMed Link: 24573164

Variant Present in the following documents:

• Main text

View BVdb publication page

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