Publications:

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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: 265T>C; Cys89Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: 265T>C; Cys89Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 3
• aba1773_Data_file_S1.xlsx, sheet 2

View BVdb publication page

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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: Cys89Arg

PubMed Link: 32820175

Variant Present in the following documents:

• 41467_2020_17374_MOESM1_ESM.pdf

View BVdb publication page

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Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

,

Publication Date: 2020-09

Variant appearance in text: LDLR: 265T>C; Cys89Arg

PubMed Link: 32546831

Variant Present in the following documents:

• NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1

View BVdb publication page

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Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel, Switzerland)

Mickiewicz, Agnieszka A; Futema, Marta M; Ćwiklinska, Agnieszka A; Kuchta, Agnieszka A; Jankowski, Maciej M; Kaszubowski, Mariusz M; Chmara, Magdalena M; Wasąg, Bartosz B; Fijałkowski, Marcin M; Jaguszewski, Miłosz M; Humphries, Steve E SE; Gruchała, Marcin M

Publication Date: 2020-05-20

Variant appearance in text: LDLR: 265T>C; Cys89Arg

PubMed Link: 32443900

Variant Present in the following documents:

• life-10-00073-s001.pdf

View BVdb publication page

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Aortic valve calcium score in hypercholesterolemic patients with and without low-density lipoprotein receptor gene mutation.

Plos One

Gałąska, Rafal R; Kulawiak-Gałąska, Dorota D; Chmara, Magdalena M; Chlebus, Krzysztof K; Studniarek, Michał M; Fijałkowski, Marcin M; Wasąg, Bartosz B; Rynkiewicz, Andrzej A; Gruchała, Marcin M

Publication Date: 2018

Variant appearance in text: LDLR: C89R

PubMed Link: 30592719

Variant Present in the following documents:

• Main text
• pone.0209229.pdf

View BVdb publication page

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

Benito-Vicente, Asier A; Uribe, Kepa B KB; Jebari, Shifa S; Galicia-Garcia, Unai U; Ostolaza, Helena H; Martin, Cesar C

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 265T>C; Cys89Arg

PubMed Link: 29874871

Variant Present in the following documents:

• Main text
• ijms-19-01676.pdf

View BVdb publication page

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