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: ABCG8: 1974C>G; Tyr658Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Genes

Wang, Helen H HH; Portincasa, Piero P; Liu, Min M; Wang, David Q-H DQ

Publication Date: 2022-06-11

Variant appearance in text: ABCG8: Y658X

PubMed Link: 35741809

Variant Present in the following documents:

• Main text
• genes-13-01047.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: ABCG8: 1974C>G; Y658*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules

Mikhailova, Svetlana S; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Shakhtshneider, Elena E

Publication Date: 2019-11-29

Variant appearance in text: ABCG8: Tyr658X; rs137852989

PubMed Link: 31795497

Variant Present in the following documents:

• Main text
• biomolecules-09-00807.pdf

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: ABCG8: 1974C>G; Tyr658*; rs137852989

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

American Journal Of Human Genetics

Lu, K K; Lee, M H MH; Hazard, S S; Brooks-Wilson, A A; Hidaka, H H; Kojima, H H; Ose, L L; Stalenhoef, A F AF; Mietinnen, T T; Bjorkhem, I I; Bruckert, E E; Pandya, A A; Brewer, H B HB; Salen, G G; Dean, M M; Srivastava, A A; Patel, S B SB

Publication Date: 2001-08

Variant appearance in text: ABCG8: Tyr658X

PubMed Link: 11452359

Variant Present in the following documents:

• Main text

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Genetic basis of sitosterolemia.

Current Opinion In Lipidology

Lee, M H MH; Lu, K K; Patel, S B SB

Publication Date: 2001-04

Variant appearance in text: ABCG8: Tyr658X

PubMed Link: 11264985

Variant Present in the following documents:

• Main text

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