Publications:

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: LDLR: Asp304Glu

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

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Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Jama Network Open

Fahed, Akl C AC; Wang, Minxian M; Patel, Aniruddh P AP; Ajufo, Ezimamaka E; Maamari, Dimitri J DJ; Aragam, Krishna G KG; Brockman, Deanna G DG; Vosburg, Trish T; Ellinor, Patrick T PT; Ng, Kenney K; Khera, Amit V AV

Publication Date: 2022-03-01

Variant appearance in text: LDLR: Asp304Glu

PubMed Link: 35294538

Variant Present in the following documents:

• jamanetwopen-e222687-s001.pdf

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Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.

Frontiers In Genetics

Chunn, Lauren M LM; Nefcy, Diane C DC; Scouten, Rachel W RW; Tarpey, Ryan P RP; Chauhan, Gurinder G; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KSJ; Schwartz, Steven A SA; Kiel, Mark J MJ

Publication Date: 2020

Variant appearance in text: LDLR: D304E

PubMed Link: 33281875

Variant Present in the following documents:

• Main text

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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: Asp304Glu

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LDLR: D304E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page