Publications:

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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: 259T>C; Trp87Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis

Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2022-08-01

Variant appearance in text: LDLR: W87R; rs121908025

PubMed Link: 34456200

Variant Present in the following documents:

• jat-29-1176.pdf

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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics

Kamar, Amina A; Khalil, Athar A; Nemer, Georges G

Publication Date: 2020

Variant appearance in text: LDLR: Trp87Arg

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.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: LDLR: Trp87Arg

PubMed Link: 33079599

Variant Present in the following documents:

• Main text
• hcg-13-515-s001.pdf
• hcg-13-515-s002.pdf
• hcg-13-515.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LDLR: 259T>C; Trp87Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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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: rs121908025

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.pdf

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[Not Available].

Der Internist

Publication Date: 2016-04

Variant appearance in text: LDLR: 259T>C; Trp87Arg

PubMed Link: 27011311

Variant Present in the following documents:

• 108_2016_Article_53.pdf

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Epipolymorphisms within lipoprotein genes contribute independently to plasma lipid levels in familial hypercholesterolemia.

Epigenetics

Guay, Simon-Pierre SP; Brisson, Diane D; Lamarche, Benoit B; Gaudet, Daniel D; Bouchard, Luigi L

Publication Date: 2014-05

Variant appearance in text: rs121908025

PubMed Link: 24504152

Variant Present in the following documents:

• Main text

View BVdb publication page

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