Publications:

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature Communications

Fahed, Akl C AC; Wang, Minxian M; Homburger, Julian R JR; Patel, Aniruddh P AP; Bick, Alexander G AG; Neben, Cynthia L CL; Lai, Carmen C; Brockman, Deanna D; Philippakis, Anthony A; Ellinor, Patrick T PT; Cassa, Christopher A CA; Lebo, Matthew M; Ng, Kenney K; Lander, Eric S ES; Zhou, Alicia Y AY; Kathiresan, Sekar S; Khera, Amit V AV

Publication Date: 2020-08-20

Variant appearance in text: LDLR: Asp245Glu

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

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Extracellular LDLR repeats modulate Wnt signaling activity by promoting LRP6 receptor endocytosis mediated by the Itch E3 ubiquitin ligase.

Genes & Cancer

Vijayakumar, Sapna S; Liu, Guizhong G; Wen, Huei-Chi HC; Abu, Yaa Y; Chong, Robert R; Nastri, Horacio H; Bornstein, Gadi G GG; Pan, Zhen-Qiang ZQ; Aaronson, Stuart A SA

Publication Date: 2017-07

Variant appearance in text: LDLR: D245E

PubMed Link: 28966723

Variant Present in the following documents:

• Main text

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Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics

Ahmad, Zahid Z; Adams-Huet, Beverley B; Chen, Chiyuan C; Garg, Abhimanyu A

Publication Date: 2012-12

Variant appearance in text: LDLR: D245E

PubMed Link: 23064986

Variant Present in the following documents:

• Main text

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