Publications:

---

Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: ABCG8: G574R; rs137852988

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

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: 1720G>A; Gly574Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Journal Of Translational Medicine

Gandhi, Geethanjali Devadoss GD; Aamer, Waleed W; Krishnamoorthy, Navaneethakrishnan N; Syed, Najeeb N; Aliyev, Elbay E; Al-Maraghi, Aljazi A; Kohailan, Muhammad M; Alenbawi, Jamil J; Elanbari, Mohammed M; , ; Mifsud, Borbala B; Mokrab, Younes Y; Khalil, Charbel Abi CA; Fakhro, Khalid A KA

Publication Date: 2022-11-03

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg; rs137852988

PubMed Link: 36329474

Variant Present in the following documents:

• 12967_2022_Article_3697.pdf

View BVdb publication page

---

Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.

Lipids In Health And Disease

Zhang, Jun J; Chen, Qiu-Li QL; Guo, Song S; Li, Yan-Hong YH; Li, Chuan C; Zheng, Ru-Jiang RJ; Luo, Xue-Qun XQ; Ma, Hua-Mei HM

Publication Date: 2022-10-13

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg

PubMed Link: 36229885

Variant Present in the following documents:

• Main text
• 12944_2022_Article_1710.pdf

View BVdb publication page

---

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.

Bmc Cardiovascular Disorders

Williams, Katie B KB; Horst, Michael M; Young, Millie M; Pascua, Christine C; Puffenberger, Erik G EG; Brigatti, Karlla W KW; Gonzaga-Jauregui, Claudia C; Shuldiner, Alan R AR; Gidding, Samuel S; Strauss, Kevin A KA; Chowdhury, Devyani D

Publication Date: 2022-03-17

Variant appearance in text: ABCG8: 1720G>A; G574R

PubMed Link: 35300601

Variant Present in the following documents:

• Main text
• 12872_2022_Article_2539.pdf

View BVdb publication page

---

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: ABCG8: 1720G>A

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg; rs137852988

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

---

The QChip1 knowledgebase and microarray for precision medicine in Qatar.

Npj Genomic Medicine

Rodriguez-Flores, Juan L JL; Messai-Badji, Radja R; Robay, Amal A; Temanni, Ramzi R; Syed, Najeeb N; Markovic, Monika M; Al-Khayat, Eiman E; Qafoud, Fatima F; Nawaz, Zafar Z; Badii, Ramin R; Al-Sarraj, Yasser Y; Mbarek, Hamdi H; Al-Muftah, Wadha W; Alvi, Muhammad M; Rostami, Mahboubeh R MR; Cruzado, Juan Carlos Martinez JCM; Mezey, Jason G JG; Shakaki, Alya Al AA; Malek, Joel A JA; Greenblatt, Matthew B MB; Fakhro, Khalid A KA; Machaca, Khaled K; Al-Nabet, Ajayeb A; Afifi, Nahla N; Brooks, Andrew A; Ismail, Said I SI; Althani, Asmaa A; Crystal, Ronald G RG

Publication Date: 2022-01-19

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg; rs137852988

PubMed Link: 35046417

Variant Present in the following documents:

• Main text
• 41525_2021_Article_270.pdf

View BVdb publication page

---

Shortcomings on genetic testing of Familial hypercholesterolemia (FH) in India: Can we collaborate to establish Indian FH registry?

Indian Heart Journal

Reddy, Lakshmi Lavanya LL; Shah, Swarup A V SAV; Ashavaid, Tester F TF

Publication Date: 2022

Variant appearance in text: ABCG8: Gly574Arg

PubMed Link: 34875256

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Frontiers In Genetics

Ramensky, Vasily E VE; Ershova, Alexandra I AI; Zaicenoka, Marija M; Kiseleva, Anna V AV; Zharikova, Anastasia A AA; Vyatkin, Yuri V YV; Sotnikova, Evgeniia A EA; Efimova, Irina A IA; Divashuk, Mikhail G MG; Kurilova, Olga V OV; Skirko, Olga P OP; Muromtseva, Galina A GA; Belova, Olga A OA; Rachkova, Svetlana A SA; Pokrovskaya, Maria S MS; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2021

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg; rs137852988

PubMed Link: 34691145

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 3

View BVdb publication page

---

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.

International Journal Of Molecular Sciences

Williams, Kori K; Segard, Allison A; Graf, Gregory A GA

Publication Date: 2021-03-05

Variant appearance in text: ABCG8: G574R

PubMed Link: 33807969

Variant Present in the following documents:

• Main text
• ijms-22-02641.pdf

View BVdb publication page

---

Enhancing and Complementary Mechanisms of Synergistic Action of Acori Tatarinowii Rhizoma and Codonopsis Radix for Alzheimer's Disease Based on Systems Pharmacology.

Evidence-Based Complementary And Alternative Medicine : Ecam

Liu, Shengwei S; He, Cui C; Liao, Yuan Y; Liu, Hailin H; Mao, Wanli W; Shen, Zhengze Z

Publication Date: 2020

Variant appearance in text: ABCG8: G574R

PubMed Link: 32802132

Variant Present in the following documents:

• ECAM2020-6317230.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg; rs137852988

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

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: Gly574Arg; rs137852988

PubMed Link: 31795497

Variant Present in the following documents:

• Main text
• biomolecules-09-00807.pdf

View BVdb publication page

---

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: 1720G>A; Gly574Arg; rs137852988

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

---

Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.

The Journal Of Molecular Diagnostics : Jmd

Crowgey, Erin L EL; Washburn, Michael C MC; Kolb, E Anders EA; Puffenberger, Erik G EG

Publication Date: 2019-07

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg

PubMed Link: 31028937

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCG8: 1720G>A; Gly574Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.

Translational Psychiatry

Kember, Rachel L RL; Hou, Liping L; Ji, Xiao X; Andersen, Lars H LH; Ghorai, Arpita A; Estrella, Lisa N LN; Almasy, Laura L; McMahon, Francis J FJ; Brown, Christopher C; Bućan, Maja M

Publication Date: 2018-10-12

Variant appearance in text: ABCG8: Gly574Arg; rs137852988

PubMed Link: 30315151

Variant Present in the following documents:

• Main text
• 41398_2018_Article_226.pdf

View BVdb publication page

---

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference.

Nature Communications

Corbin, Laura J LJ; Tan, Vanessa Y VY; Hughes, David A DA; Wade, Kaitlin H KH; Paul, Dirk S DS; Tansey, Katherine E KE; Butcher, Frances F; Dudbridge, Frank F; Howson, Joanna M JM; Jallow, Momodou W MW; John, Catherine C; Kingston, Nathalie N; Lindgren, Cecilia M CM; O'Donavan, Michael M; O'Rahilly, Stephen S; Owen, Michael J MJ; Palmer, Colin N A CNA; Pearson, Ewan R ER; Scott, Robert A RA; van Heel, David A DA; Whittaker, John J; Frayling, Tim T; Tobin, Martin D MD; Wain, Louise V LV; Smith, George Davey GD; Evans, David M DM; Karpe, Fredrik F; McCarthy, Mark I MI; Danesh, John J; Franks, Paul W PW; Timpson, Nicholas J NJ

Publication Date: 2018-02-19

Variant appearance in text: ABCG8: G574R

PubMed Link: 29459775

Variant Present in the following documents:

• 41467_2018_Article_3109.pdf

View BVdb publication page

---

The Lipid-lowering Effects and Associated Mechanisms of Dietary Phytosterol Supplementation.

Current Pharmaceutical Design

Dumolt, Jerad H JH; Rideout, Todd C TC

Publication Date: 2017

Variant appearance in text: ABCG8: G574R; rs137852988

PubMed Link: 28745211

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Crystal structure of the human sterol transporter ABCG5/ABCG8.

Nature

Lee, Jyh-Yeuan JY; Kinch, Lisa N LN; Borek, Dominika M DM; Wang, Jin J; Wang, Junmei J; Urbatsch, Ina L IL; Xie, Xiao-Song XS; Grishin, Nikolai V NV; Cohen, Jonathan C JC; Otwinowski, Zbyszek Z; Hobbs, Helen H HH; Rosenbaum, Daniel M DM

Publication Date: 2016-05-26

Variant appearance in text: N/A

PubMed Link: 27144356

Variant Present in the following documents:

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCG8: G574R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Familial aggregation of tobacco use behaviors among Amish men.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Nugent, Katie L KL; Million-Mrkva, Amber A; Backman, Joshua J; Stephens, Sarah H SH; Reed, Robert M RM; Kochunov, Peter P; Pollin, Toni I TI; Shuldiner, Alan R AR; Mitchell, Braxton D BD; Hong, L Elliot LE

Publication Date: 2014-07

Variant appearance in text: ABCG8: G574R

PubMed Link: 24583363

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: ABCG8: 1720G>A; G574R; rs137852988

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

---

The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish.

Arteriosclerosis, Thrombosis, And Vascular Biology

Horenstein, Richard B RB; Mitchell, Braxton D BD; Post, Wendy S WS; Lütjohann, Dieter D; von Bergmann, Klaus K; Ryan, Kathleen A KA; Terrin, Michael M; Shuldiner, Alan R AR; Steinle, Nanette I NI

Publication Date: 2013-02

Variant appearance in text: ABCG8: Gly574Arg; rs137852988

PubMed Link: 23241408

Variant Present in the following documents:

• Main text

View BVdb publication page

---

ATP binding cassette transporter G1 (ABCG1) is an intracellular sterol transporter.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Tarling, Elizabeth J EJ; Edwards, Peter A PA

Publication Date: 2011-12-06

Variant appearance in text: N/A

PubMed Link: 22095132

Variant Present in the following documents:

View BVdb publication page

---

Phytosterols and phytosterolemia: gene-diet interactions.

Genes & Nutrition

Izar, Maria C MC; Tegani, Daniela M DM; Kasmas, Soraia H SH; Fonseca, Francisco A FA

Publication Date: 2011-02

Variant appearance in text: N/A

PubMed Link: 21437027

Variant Present in the following documents:

View BVdb publication page

---

Mutational studies of G553 in TM5 of ABCG2: a residue potentially involved in dimerization.

Biochemistry

Polgar, Orsolya O; Ozvegy-Laczka, Csilla C; Robey, Robert W RW; Morisaki, Kuniaki K; Okada, Masaki M; Tamaki, Akina A; Koblos, Gabriella G; Elkind, N Barry NB; Ward, Yvona Y; Dean, Michael M; Sarkadi, Balazs B; Bates, Susan E SE

Publication Date: 2006-04-25

Variant appearance in text: N/A

PubMed Link: 16618113

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 11452359

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 11264985

Variant Present in the following documents:

View BVdb publication page

---