Publications:

Multi-omics integration identifies key upstream regulators of pathomechanisms in hypertrophic cardiomyopathy due to truncating MYBPC3 mutations.

Clinical Epigenetics

Pei, J J; Schuldt, M M; Nagyova, E E; Gu, Z Z; El Bouhaddani, S S; Yiangou, L L; Jansen, M M; Calis, J J A JJA; Dorsch, L M LM; Blok, C Snijders CS; van den Dungen, N A M NAM; Lansu, N N; Boukens, B J BJ; Efimov, I R IR; Michels, M M; Verhaar, M C MC; de Weger, R R; Vink, A A; van Steenbeek, F G FG; Baas, A F AF; Davis, R P RP; Uh, H W HW; Kuster, D W D DWD; Cheng, C C; Mokry, M M; van der Velden, J J; Asselbergs, F W FW; Harakalova, M M

Publication Date: 2021-03-23

Variant appearance in text: rs397516082

PubMed Link: 33757590

Variant Present in the following documents:

• Main text
• 13148_2021_Article_1043.pdf

View BVdb publication page

Sequence variants with large effects on cardiac electrophysiology and disease.

Nature Communications

Norland, Kristjan K; Sveinbjornsson, Gardar G; Thorolfsdottir, Rosa B RB; Davidsson, Olafur B OB; Tragante, Vinicius V; Rajamani, Sridharan S; Helgadottir, Anna A; Gretarsdottir, Solveig S; van Setten, Jessica J; Asselbergs, Folkert W FW; Sverrisson, Jon Th JT; Stephensen, Sigurdur S SS; Oskarsson, Gylfi G; Sigurdsson, Emil L EL; Andersen, Karl K; Danielsen, Ragnar R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Arnar, David O DO; Sulem, Patrick P; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K

Publication Date: 2019-10-22

Variant appearance in text: MYBPC3: 927-2A>G; rs397516082

PubMed Link: 31641117

Variant Present in the following documents:

• Main text
• 41467_2019_Article_12682.pdf
• 41467_2019_12682_MOESM5_ESM.xlsx, sheet 1
• 41467_2019_12682_MOESM17_ESM.xlsx, sheet 1

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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: MYBPC3: 927-2A>G; rs397516082

PubMed Link: 30847666

Variant Present in the following documents:

• 12471_2019_1250_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page