Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs533375

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications

Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C

Publication Date: 2021-09-24

Variant appearance in text: rs533375

PubMed Link: 34561430

Variant Present in the following documents:

• 41467_2021_25703_MOESM1_ESM.pdf

View BVdb publication page

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Genetic drug target validation using Mendelian randomisation.

Nature Communications

Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD

Publication Date: 2020-06-26

Variant appearance in text: rs533375

PubMed Link: 32591531

Variant Present in the following documents:

• 41467_2020_16969_MOESM1_ESM.pdf

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: PCSK9: 1180+174A>G

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: PCSK9: 1180+174A>G; rs533375

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.xlsx, sheet 1

View BVdb publication page

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Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific Reports

Guo, Tao T; Yin, Rui-Xing RX; Yao, Li-Mei LM; Huang, Feng F; Pan, Ling L; Lin, Wei-Xiong WX; Yang, De-Zhai DZ; Pan, Shang-Ling SL

Publication Date: 2016-11-17

Variant appearance in text: PCSK9: 1180+174A>G; rs533375

PubMed Link: 27853278

Variant Present in the following documents:

• Main text
• srep37375.pdf

View BVdb publication page

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APOM and high-density lipoprotein cholesterol are associated with lung function and per cent emphysema.

The European Respiratory Journal

Burkart, Kristin M KM; Manichaikul, Ani A; Wilk, Jemma B JB; Ahmed, Firas S FS; Burke, Gregory L GL; Enright, Paul P; Hansel, Nadia N NN; Haynes, Demondes D; Heckbert, Susan R SR; Hoffman, Eric A EA; Kaufman, Joel D JD; Kurai, Jun J; Loehr, Laura L; London, Stephanie J SJ; Meng, Yang Y; O'Connor, George T GT; Oelsner, Elizabeth E; Petrini, Marcy M; Pottinger, Tess D TD; Powell, Charles A CA; Redline, Susan S; Rotter, Jerome I JI; Smith, Lewis J LJ; Soler Artigas, María M; Tobin, Martin D MD; Tsai, Michael Y MY; Watson, Karol K; White, Wendy W; Young, Taylor R TR; Rich, Stephen S SS; Barr, R Graham RG

Publication Date: 2014-04

Variant appearance in text: rs533375

PubMed Link: 23900982

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics

Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD

Publication Date: 2009-06-15

Variant appearance in text: rs533375

PubMed Link: 19336475

Variant Present in the following documents:

• ddp159_1.pdf

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Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics

Ding, Keyue K; Kullo, Iftikhar J IJ

Publication Date: 2008-03

Variant appearance in text: rs533375

PubMed Link: 18300938

Variant Present in the following documents:

• Main text

View BVdb publication page

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