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: 418G>T; Glu140Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.

Iscience

Du, Zhiyong Z; Li, Fan F; Li, Linyi L; Wang, Yu Y; Li, Jianping J; Yang, Ya Y; Jiang, Long L; Wang, Luya L; Qin, Yanwen Y

Publication Date: 2022-11-18

Variant appearance in text: LDLR: 418G>T; Glu140*

PubMed Link: 36325061

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels.

Journal Of The American Heart Association

Funabashi, Sayaka S; Kataoka, Yu Y; Hori, Mika M; Ogura, Masatsune M; Doi, Takahito T; Noguchi, Teruo T; Harada-Shiba, Mariko M

Publication Date: 2022-08-16

Variant appearance in text: rs748944640

PubMed Link: 35929461

Variant Present in the following documents:

• JAH3-11-e025232.pdf

View BVdb publication page

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Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature Communications

Lali, Ricky R; Chong, Michael M; Omidi, Arghavan A; Mohammadi-Shemirani, Pedrum P; Le, Ann A; Cui, Edward E; Paré, Guillaume G

Publication Date: 2021-10-06

Variant appearance in text: LDLR: E140*

PubMed Link: 34615865

Variant Present in the following documents:

• 41467_2021_26114_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Clinical Genetics

Di Taranto, Maria Donata MD; Giacobbe, Carola C; Palma, Daniela D; Iannuzzo, Gabriella G; Gentile, Marco M; Calcaterra, Ilenia I; Guardamagna, Ornella O; Auricchio, Renata R; Di Minno, Matteo Nicola Dario MND; Fortunato, Giuliana G

Publication Date: 2021-11

Variant appearance in text: LDLR: 418G>T; Glu140*; rs748944640

PubMed Link: 34297352

Variant Present in the following documents:

• Main text
• CGE-100-529.pdf

View BVdb publication page

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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: 418G>T; Glu140*

PubMed Link: 33519890

Variant Present in the following documents:

• Main text
• fgene-11-572045.pdf

View BVdb publication page

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Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Wang, Hao H; Yang, Hang H; Liu, Zhaohui Z; Cui, Kai K; Zhang, Yinhui Y; Zhang, Yujing Y; Zhao, Kun K; Yin, Kunlun K; Li, Wenke W; Zhou, Zhou Z

Publication Date: 2020-12-01

Variant appearance in text: LDLR: 418G>T; Glu140Ter

PubMed Link: 32759540

Variant Present in the following documents:

• Main text
• jat-27-1288.pdf

View BVdb publication page

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Statin-induced myopathic changes in primary human muscle cells and reversal by a prostaglandin F2 alpha analogue.

Scientific Reports

Grunwald, Stefanie Anke SA; Popp, Oliver O; Haafke, Stefanie S; Jedraszczak, Nicole N; Grieben, Ulrike U; Saar, Kathrin K; Patone, Giannino G; Kress, Wolfram W; Steinhagen-Thiessen, Elisabeth E; Dittmar, Gunnar G; Spuler, Simone S

Publication Date: 2020-02-07

Variant appearance in text: rs748944640

PubMed Link: 32034223

Variant Present in the following documents:

• Main text
• 41598_2020_Article_58668.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: E140X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

Thormaehlen, Aenne S AS; Schuberth, Christian C; Won, Hong-Hee HH; Blattmann, Peter P; Joggerst-Thomalla, Brigitte B; Theiss, Susanne S; Asselta, Rosanna R; Duga, Stefano S; Merlini, Pier Angelica PA; Ardissino, Diego D; Lander, Eric S ES; Gabriel, Stacey S; Rader, Daniel J DJ; Peloso, Gina M GM; Pepperkok, Rainer R; Kathiresan, Sekar S; Runz, Heiko H

Publication Date: 2015-02

Variant appearance in text: LDLR: E140*

PubMed Link: 25647241

Variant Present in the following documents:

• Main text

View BVdb publication page

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