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: 643C>T; Arg215Cys

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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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: LDLR: R215C; rs764042910

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.

Frontiers In Genetics

Nurm, Miriam M; Reigo, Anu A; Nõukas, Margit M; Leitsalu, Liis L; Nikopensius, Tiit T; Palover, Marili M; Annilo, Tarmo T; Alver, Maris M; Saar, Aet A; Marandi, Toomas T; Ainla, Tiia T; Metspalu, Andres A; Esko, Tõnu T; Tõnisson, Neeme N

Publication Date: 2022

Variant appearance in text: LDLR: Arg215Cys; rs764042910

PubMed Link: 35928446

Variant Present in the following documents:

• Main text
• fgene-13-936131.pdf

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: LDLR: 643C>T

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Apolipoprotein E: Structural Insights and Links to Alzheimer Disease Pathogenesis.

Neuron

Chen, Yun Y; Strickland, Michael R MR; Soranno, Andrea A; Holtzman, David M DM

Publication Date: 2021-01-20

Variant appearance in text: LDLR: R215C

PubMed Link: 33176118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.

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

Alver, Maris M; Palover, Marili M; Saar, Aet A; Läll, Kristi K; Zekavat, Seyedeh Maryam SM; Tõnisson, Neeme N; Leitsalu, Liis L; Reigo, Anu A; Nikopensius, Tiit T; Ainla, Tiia T; Kals, Mart M; Mägi, Reedik R; Gabriel, Stacey B SB; Eha, Jaan J; Lander, Eric S ES; Irs, Alar A; Philippakis, Anthony A; Marandi, Toomas T; Natarajan, Pradeep P; Metspalu, Andres A; Kathiresan, Sekar S; Esko, Tõnu T

Publication Date: 2019-05

Variant appearance in text: LDLR: 643C>T; Arg215Cys

PubMed Link: 30270359

Variant Present in the following documents:

• 41436_2018_311_MOESM7_ESM.pdf

View BVdb publication page

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