Publications:

Genetics of inherited cardiomyopathies in Africa.

Cardiovascular Diagnosis And Therapy

Shaboodien, Gasnat G; Spracklen, Timothy F TF; Kamuli, Stephen S; Ndibangwi, Polycarp P; Van Niekerk, Carla C; Ntusi, Ntobeko A B NAB

Publication Date: 2020-04

Variant appearance in text: MYBPH: 1093+449T>C; rs2250509

PubMed Link: 32420109

Variant Present in the following documents:

• Main text

View BVdb publication page

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: rs2250509

PubMed Link: 31506931

Variant Present in the following documents:

• Main text
• CGE-97-235.pdf

View BVdb publication page

Plasma levels of the proinflammatory chitin-binding glycoprotein YKL-40, variation in the chitinase 3-like 1 gene (CHI3L1), and incident cardiovascular events.

Journal Of The American Heart Association

Ridker, Paul M PM; Chasman, Daniel I DI; Rose, Lynda L; Loscalzo, Joseph J; Elias, Jack A JA

Publication Date: 2014-06-23

Variant appearance in text: rs2250509

PubMed Link: 24958781

Variant Present in the following documents:

• Main text
• jah3-3-e000897.pdf

View BVdb publication page