Publications:

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Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Functional & Integrative Genomics

Alkhamis, Fahad A FA; Alabdali, Majed M MM; Alsulaiman, Abdulla A AA; Alamri, Abdullah S AS; Alali, Rudaynah R; Akhtar, Mohammed S MS; Alsalman, Sadiq A SA; Cyrus, Cyril C; Albakr, Aishah I AI; Alduhalan, Anas S AS; Gandla, Divya D; Al-Romaih, Khaldoun K; Abouelhoda, Mohamed M; Loza, Bao-Li BL; Keating, Brendan B; Al-Ali, Amein K AK

Publication Date: 2023-03-27

Variant appearance in text: ABCA1: 2660G>T; Cys887Phe; rs187652566

PubMed Link: 36973604

Variant Present in the following documents:

• 10142_2023_1039_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications

Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ

Publication Date: 2022-11-04

Variant appearance in text: ABCA1: Cys887Phe; rs187652566

PubMed Link: 36333282

Variant Present in the following documents:

• 41467_2022_Article_34163.pdf
• 41467_2022_34163_MOESM3_ESM.xlsx, sheet 8

View BVdb publication page

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Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Bmc Medical Genomics

Bae, Soyoung S; Yang, Aram A; Kim, Jinsup J; Lee, Hyun Ju HJ; Park, Hyun Kyung HK

Publication Date: 2021-12-20

Variant appearance in text: ABCA1: 2660G>T; Cys887Phe

PubMed Link: 34930245

Variant Present in the following documents:

• 12920_2021_1148_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.

Bmc Medical Genomics

Bae, Soyoung S; Yang, Aram A; Kim, Jinsup J; Lee, Hyun Ju HJ; Park, Hyun Kyung HK

Publication Date: 2021-12-20

Variant appearance in text: ABCA1: 2660G>T; Cys887Phe

PubMed Link: 34930245

Variant Present in the following documents:

• 12920_2021_1148_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs187652566

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 1

View BVdb publication page

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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: ABCA1: 2660G>T; Cys887Phe; rs187652566

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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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: ABCA1: 2660G>T; Cys887Phe

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ABCA1: 2660G>T; C887F

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol

Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A

Publication Date: 2014

Variant appearance in text: ABCA1: C887F

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

View BVdb publication page

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ABC transporter genes and risk of type 2 diabetes: a study of 40,000 individuals from the general population.

Diabetes Care

Schou, Jesper J; Tybjærg-Hansen, Anne A; Møller, Holger J HJ; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R

Publication Date: 2012-12

Variant appearance in text: ABCA1: 2660G>T; C887F; rs187652566

PubMed Link: 23139370

Variant Present in the following documents:

• supp_dc12-0082v120082_DC120082SupplementaryData.pdf

View BVdb publication page

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