Publications:

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Frontiers In Genetics

Nurm, Miriam M; Reigo, Anu A; Nõukas, Margit M; Leitsalu, Liis L; Nikopensius, Tiit T; Palover, Marili M; Annilo, Tarmo T; Alver, Maris M; Saar, Aet A; Marandi, Toomas T; Ainla, Tiia T; Metspalu, Andres A; Esko, Tõnu T; Tõnisson, Neeme N

Publication Date: 2022

Variant appearance in text: LDLR: Gly396Ala; rs766474188

PubMed Link: 35928446

Variant Present in the following documents:

• Main text
• fgene-13-936131.pdf

View BVdb publication page

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

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

Alver, Maris M; Palover, Marili M; Saar, Aet A; Läll, Kristi K; Zekavat, Seyedeh Maryam SM; Tõnisson, Neeme N; Leitsalu, Liis L; Reigo, Anu A; Nikopensius, Tiit T; Ainla, Tiia T; Kals, Mart M; Mägi, Reedik R; Gabriel, Stacey B SB; Eha, Jaan J; Lander, Eric S ES; Irs, Alar A; Philippakis, Anthony A; Marandi, Toomas T; Natarajan, Pradeep P; Metspalu, Andres A; Kathiresan, Sekar S; Esko, Tõnu T

Publication Date: 2019-05

Variant appearance in text: LDLR: Gly396Ala

PubMed Link: 30270359

Variant Present in the following documents:

• Main text
• 41436_2018_311_MOESM7_ESM.pdf
• 41436_2018_311_MOESM6_ESM.pdf
• 41436_2018_311_MOESM5_ESM.pdf
• 41436_2018_Article_311.pdf

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The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Metabolism: Clinical And Experimental

Sharifi, Mahtab M; Walus-Miarka, Małgorzata M; Idzior-Waluś, Barbara B; Malecki, Maciej T MT; Sanak, Marek M; Whittall, Ros R; Li, Ka Wah KW; Futema, Marta M; Humphries, Steve E SE

Publication Date: 2016-03

Variant appearance in text: LDLR: Gly396Ala

PubMed Link: 26892515

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page