Publications:

Cardiovascular Disease, Atherosclerosis and Familial Hypercholesterolemia: From Molecular Mechanisms Causing Pathogenicity to New Therapeutic Approaches.

International Journal Of Molecular Sciences

Jebari-Benslaiman, Shifa S; Larrea-Sebal, Asier A; Benito-Vicente, Asier A; Martín, César C

Publication Date: 2023-04-21

Variant appearance in text: PCSK9: Arg160Gln

PubMed Link: 37108820

Variant Present in the following documents:

• Main text
• ijms-24-07659.pdf

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Familial Occurrence of Adult Granulosa Cell Tumors: Analysis of Whole-Genome Germline Variants.

Cancers

Roze, Joline F JF; Kutzera, Joachim J; Koole, Wouter W; Ausems, Margreet G E M MGEM; Engelstad, Kristi K; Piek, Jurgen M J JMJ; de Kroon, Cor D CD; Verheijen, René H M RHM; van Haaften, Gijs G; Zweemer, Ronald P RP; Monroe, Glen R GR

Publication Date: 2021-05-18

Variant appearance in text: PCSK9: 479G>A; R160Q

PubMed Link: 34069790

Variant Present in the following documents:

• Main text
• cancers-13-02430.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PCSK9: 479G>A; R160Q

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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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: 479G>A; Arg160Gln

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs367620267

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page