Publications:

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: 1102T>G; Cys368Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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: rs879254791

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.

Scientific Reports

Galicia-Garcia, Unai U; Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Larrea-Sebal, Asier A; Alonso-Estrada, Rocio R; Aguilo-Arce, Joseba J; Ostolaza, Helena H; Palacios, Lourdes L; Martin, Cesar C

Publication Date: 2020-02-03

Variant appearance in text: LDLR: 1102T>G; Cys368Gly

PubMed Link: 32015373

Variant Present in the following documents:

• 41598_2020_58734_MOESM1_ESM.pdf

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Development and rescue of human familial hypercholesterolaemia in a xenograft mouse model.

Nature Communications

Bissig-Choisat, Beatrice B; Wang, Lili L; Legras, Xavier X; Saha, Pradip K PK; Chen, Leon L; Bell, Peter P; Pankowicz, Francis P FP; Hill, Matthew C MC; Barzi, Mercedes M; Leyton, Claudia Kettlun CK; Leung, Hon-Chiu Eastwood HE; Kruse, Robert L RL; Himes, Ryan W RW; Goss, John A JA; Wilson, James M JM; Chan, Lawrence L; Lagor, William R WR; Bissig, Karl-Dimiter KD

Publication Date: 2015-06-17

Variant appearance in text: LDLR: Cys368Gly

PubMed Link: 26081744

Variant Present in the following documents:

• ncomms8339-s1.pdf

View BVdb publication page