Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: SCN5A: 5958C>A; Asn1986Lys

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation.

Life (Basel, Switzerland)

Lin, Liyan L; Li, Ke K; Tian, Beijia B; Jia, Mengru M; Wang, Qianyan Q; Xu, Chengqi C; Xiong, Liang L; Wang, Qing K QK; Zeng, Yali Y; Wang, Pengyun P

Publication Date: 2022-11-05

Variant appearance in text: SCN5A: N1986K

PubMed Link: 36362949

Variant Present in the following documents:

• Main text
• life-12-01794.pdf

View BVdb publication page

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Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications

Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA

Publication Date: 2022-08-30

Variant appearance in text: SCN5A: 5958C>A; Asn1986Lys; rs199473335

PubMed Link: 36042188

Variant Present in the following documents:

• 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Ca2+-dependent modulation of voltage-gated myocyte sodium channels.

Biochemical Society Transactions

Salvage, Samantha C SC; Habib, Zaki F ZF; Matthews, Hugh R HR; Jackson, Antony P AP; Huang, Christopher L-H CL

Publication Date: 2021-11-01

Variant appearance in text: LQT3: N1986K

PubMed Link: 34643236

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation

van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I

Publication Date: 2019-06

Variant appearance in text: rs199473335

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SCN5A: N1986K

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: 5958C>A; Asn1986Lys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetic Discoveries in Atrial Fibrillation and Implications for Clinical Practice.

Arrhythmia & Electrophysiology Review

Mahida, Saagar S

Publication Date: 2014-08

Variant appearance in text: SCN5A: N1986K

PubMed Link: 26835069

Variant Present in the following documents:

• Main text

View BVdb publication page

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Atrial Fibrillation and SCN5A Variants.

Cardiac Electrophysiology Clinics

Savio-Galimberti, Eleonora E; Darbar, Dawood D

Publication Date: 2014-12-01

Variant appearance in text: SCN5A: N1986K

PubMed Link: 25484998

Variant Present in the following documents:

• Main text

View BVdb publication page

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A contemporary review on the genetic basis of atrial fibrillation.

Methodist Debakey Cardiovascular Journal

Roberts, Jason D JD; Gollob, Michael H MH

Publication Date: 2014

Variant appearance in text: SCN5A: Asn1986Lys

PubMed Link: 24932358

Variant Present in the following documents:

• Main text

View BVdb publication page

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Atrial fibrillation: the role of common and rare genetic variants.

European Journal Of Human Genetics : Ejhg

Olesen, Morten S MS; Nielsen, Morten W MW; Haunsø, Stig S; Svendsen, Jesper H JH

Publication Date: 2014-03

Variant appearance in text: SCN5A: 5958C>A

PubMed Link: 23838598

Variant Present in the following documents:

• Main text

View BVdb publication page

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Monogenic atrial fibrillation as pathophysiological paradigms.

Cardiovascular Research

Mahida, Saagar S; Lubitz, Steven A SA; Rienstra, Michiel M; Milan, David J DJ; Ellinor, Patrick T PT

Publication Date: 2011-03-01

Variant appearance in text: SCN5A: N1986K

PubMed Link: 21123219

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac sodium channel variants: action players with many faces.

Heart Rhythm

Darbar, Dawood D

Publication Date: 2008-10

Variant appearance in text: SCN5A: N1986K

PubMed Link: 18929332

Variant Present in the following documents:

• Main text

View BVdb publication page

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