Publications:

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Genetic variations that influence paclitaxel pharmacokinetics and intracellular effects that may contribute to chemotherapy-induced neuropathy: A narrative review.

Frontiers In Pain Research (Lausanne, Switzerland)

Johnson, Ken B KB; Sharma, Anukriti A; Henry, N Lynn NL; Wei, Mei M; Bie, Bihua B; Hershberger, Courtney E CE; Rhoades, Emily E EE; Sen, Alper A; Johnson, Ryan E RE; Steenblik, Jacob J; Hockings, Jennifer J; Budd, G Thomas GT; Eng, Charis C; Foss, Joseph J; Rotroff, Daniel M DM

Publication Date: 2023

Variant appearance in text: rs71581941

PubMed Link: 37251592

Variant Present in the following documents:

• Main text
• fpain-04-1139883.pdf

View BVdb publication page

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Advanced cell-based products generated via automated and manual manufacturing platforms under the quality by design principle: Are they equivalent or different?

Heliyon

Hoang, Duc M DM; Nguyen, Quyen T QT; Phan, Trang T K TTK; Ngo, Anh T L ATL; Pham, Phuong T PT; Bach, Trung Q TQ; Le, Phuong T T PTT; Bui, Hoa T P HTP; Thanh, Liem Nguyen LN

Publication Date: 2023-05

Variant appearance in text: SLCO1B1: 1738C>T; Arg580Ter

PubMed Link: 37229156

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications

Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK

Publication Date: 2022-11-05

Variant appearance in text: rs71581941

PubMed Link: 36335097

Variant Present in the following documents:

• Main text
• 41467_2022_34116_MOESM2_ESM.pdf
• 41467_2022_Article_34116.pdf

View BVdb publication page

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: rs71581941

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Npj Genomic Medicine

Lanillos, Javier J; Carcajona, Marta M; Maietta, Paolo P; Alvarez, Sara S; Rodriguez-Antona, Cristina C

Publication Date: 2022-02-18

Variant appearance in text: SLCO1B1: 1738C>T; Arg580*; rs71581941

PubMed Link: 35181665

Variant Present in the following documents:

• 41525_2022_283_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SLCO1B1: R580*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of a germline CSPG4 variation in a family with neurofibromatosis type 1-like phenotype.

Cell Death & Disease

Bai, Zhuanli Z; Qu, Yiping Y; Shi, Lin L; Li, Xinju X; Yang, Zhen Z; Ji, Meiju M; Hou, Peng P

Publication Date: 2021-08-03

Variant appearance in text: SLCO1B1: 1738C>T; rs71581941

PubMed Link: 34344877

Variant Present in the following documents:

• 41419_2021_4056_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Rotor Syndrome: Glucuronidated Bile Acidemia From Defective Reuptake by Hepatocytes.

Hepatology Communications

Kimura, Akihiko A; Kagawa, Tatehiro T; Takei, Hajime H; Maruo, Yoshihiro Y; Sakugawa, Hiroshi H; Sasaki, Takahiro T; Murai, Tsuyoshi T; Naritaka, Nakayuki N; Takikawa, Hajime H; Nittono, Hiroshi H

Publication Date: 2021-04

Variant appearance in text: SLCO1B1: 1738C>T

PubMed Link: 33860121

Variant Present in the following documents:

• Main text
• HEP4-5-629.pdf

View BVdb publication page

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs71581941

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: SLCO1B1: R580X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: SLCO1B1: Arg580Ter; rs71581941

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 9

View BVdb publication page

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Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports

Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR

Publication Date: 2020-12-04

Variant appearance in text: rs71581941

PubMed Link: 33277594

Variant Present in the following documents:

• 41598_2020_78231_MOESM1_ESM.pdf

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: SLCO1B1: 1738C>T; Arg580Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Insertion of LINE-1 Retrotransposon Inducing Exon Inversion Causes a Rotor Syndrome Phenotype.

Frontiers In Genetics

Zhou, Donghu D; Qi, Saiping S; Zhang, Wei W; Wu, Lina L; Xu, Anjian A; Li, Xiaojin X; Zhang, Bei B; Li, Yanmeng Y; Jia, Siyu S; Wang, Hejing H; Jia, Jidong J; Ou, Xiaojuan X; Huang, Jian J; You, Hong H

Publication Date: 2019

Variant appearance in text: SLCO1B1: 1738C>T

PubMed Link: 32082363

Variant Present in the following documents:

• Main text
• fgene-10-01399.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: SLCO1B1: 1738C>T; Arg580Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1
• MGG3-7-e00748-s005.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: SLCO1B1: R580X; rs71581941

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs71581941

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Transporter-Mediated Alterations in Patients With NASH Increase Systemic and Hepatic Exposure to an OATP and MRP2 Substrate.

Clinical Pharmacology And Therapeutics

Ali, Izna I; Slizgi, Jason R JR; Kaullen, Josh D JD; Ivanovic, Marija M; Niemi, Mikko M; Stewart, Paul W PW; Barritt, Alfred S AS; Brouwer, Kim L R KLR

Publication Date: 2017-12-22

Variant appearance in text: SLCO1B1: 1738C>T; rs71581941

PubMed Link: 29271075

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs71581941

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Loss of organic anion transporting polypeptide 1B3 function causes marked delay in indocyanine green clearance without any clinical symptoms.

Hepatology (Baltimore, Md.)

Kagawa, Tatehiro T; Adachi, Yukihiko Y; Hashimoto, Naoaki N; Mitsui, Hiroshi H; Ohashi, Tomohiko T; Yoneda, Masashi M; Hasegawa, Izumi I; Hirose, Shunji S; Tsuruya, Kota K; Anzai, Kazuya K; Mine, Tetsuya T

Publication Date: 2017-03

Variant appearance in text: SLCO1B1: 1738C>T; R580X

PubMed Link: 27863442

Variant Present in the following documents:

• Main text
• HEP-65-1065.pdf

View BVdb publication page

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Comparison of genome sequencing and clinical genotyping for pharmacogenes.

Clinical Pharmacology And Therapeutics

Yang, W W; Wu, G G; Broeckel, U U; Smith, C A CA; Turner, V V; Haidar, C E CE; Wang, S S; Carter, R R; Karol, S E SE; Neale, G G; Crews, K R KR; Yang, J J JJ; Mullighan, C G CG; Downing, J R JR; Evans, W E WE; Relling, M V MV

Publication Date: 2016-10

Variant appearance in text: SLCO1B1: R580*; rs71581941

PubMed Link: 27311679

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: SLCO1B1: R580*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-5.xlsx, sheet 1

View BVdb publication page

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Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Plos Genetics

Alsalem, Ahmed B AB; Halees, Anason S AS; Anazi, Shamsa S; Alshamekh, Shomoukh S; Alkuraya, Fowzan S FS

Publication Date: 2013

Variant appearance in text: SLCO1B1: R580X; rs71581941

PubMed Link: 24367280

Variant Present in the following documents:

• pgen.1004030.s008.xlsx, sheet 1

View BVdb publication page

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Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.

The Journal Of Clinical Investigation

van de Steeg, Evita E; Stránecký, Viktor V; Hartmannová, Hana H; Nosková, Lenka L; Hřebíček, Martin M; Wagenaar, Els E; van Esch, Anita A; de Waart, Dirk R DR; Oude Elferink, Ronald P J RP; Kenworthy, Kathryn E KE; Sticová, Eva E; al-Edreesi, Mohammad M; Knisely, A S AS; Kmoch, Stanislav S; Jirsa, Milan M; Schinkel, Alfred H AH

Publication Date: 2012-02

Variant appearance in text:

PubMed Link: 22232210

Variant Present in the following documents:

• Main text

View BVdb publication page

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