Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LDLR: 2072C>A; Ser691Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.

Endocrine Connections

Chan, Melody Lok-Yi ML; Shiu, Sammy Wing-Ming SW; Cheung, Ching-Lung CL; Yu-Hung Leung, Anskar A; Tan, Kathryn Choon-Beng KC

Publication Date: 2022-06-15

Variant appearance in text: LDLR: 2072C>A

PubMed Link: 35560019

Variant Present in the following documents:

• supplementary_table_1.pdf

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Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal

Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF

Publication Date: 2022

Variant appearance in text: LDLR: 2072C>A

PubMed Link: 34875256

Variant Present in the following documents:

• Main text
• main.pdf

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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs369943481

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology

Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR

Publication Date: 2020-04-01

Variant appearance in text: rs369943481

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.pdf

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