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: 1A>G; Met1Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine

Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G

Publication Date: 2021-08-31

Variant appearance in text: LDLR: 1A>G

PubMed Link: 34575654

Variant Present in the following documents:

• Main text
• jpm-11-00877.pdf

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Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report.

Medicine

Bayona, Ane A; Arrieta, Francisco F; Rodríguez-Jiménez, Carmen C; Cerrato, Francisco F; Rodríguez-Nóvoa, Sonia S; Fernández-Lucas, Milagros M; Gómez-Coronado, Diego D; Mata, Pedro P

Publication Date: 2020-08-21

Variant appearance in text: LDLR: 1A>G

PubMed Link: 32846800

Variant Present in the following documents:

• medi-99-e21754.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: LDLR: 1A>G; Met1Val

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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