Publications:

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: CYP8B1: P477P; rs735320

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.

Translational And Clinical Pharmacology

Kim, Byungwook B; Yoon, Deok Yong DY; Lee, SeungHwan S; Jang, In-Jin IJ; Yu, Kyung-Sang KS; Cho, Joo-Youn JY; Oh, Jaeseong J

Publication Date: 2021-09

Variant appearance in text: CYP8B1: 1431G>A; P477P; rs735320

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: CYP8B1: 1431G>A; P477P; rs735320

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: CYP8B1: 1431G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Reproducibility of pharmacogenetics findings for paclitaxel in a heterogeneous population of patients with lung cancer.

Plos One

Sissung, Tristan M TM; Rajan, Arun A; Blumenthal, Gideon M GM; Liewehr, David J DJ; Steinberg, Seth M SM; Berman, Arlene A; Giaccone, Giuseppe G; Figg, William D WD

Publication Date: 2019

Variant appearance in text: rs735320

PubMed Link: 30817750

Variant Present in the following documents:

• Main text
• pone.0212097.pdf

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs735320

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A GWAS meta-analysis suggests roles for xenobiotic metabolism and ion channel activity in the biology of stool frequency.

Gut

Jankipersadsing, Soesma A SA; Hadizadeh, Fatemeh F; Bonder, Marc Jan MJ; Tigchelaar, Ettje F EF; Deelen, Patrick P; Fu, Jingyuan J; Andreasson, Anna A; Agreus, Lars L; Walter, Susanna S; Wijmenga, Cisca C; Hysi, Pirro P; D'Amato, Mauro M; Zhernakova, Alexandra A

Publication Date: 2017-04

Variant appearance in text: rs735320

PubMed Link: 27473416

Variant Present in the following documents:

• Main text
• gutjnl-2016-312398.pdf

View BVdb publication page

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Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk.

Human Molecular Genetics

Rand, Kristin A KA; Rohland, Nadin N; Tandon, Arti A; Stram, Alex A; Sheng, Xin X; Do, Ron R; Pasaniuc, Bogdan B; Allen, Alex A; Quinque, Dominique D; Mallick, Swapan S; Le Marchand, Loic L; Kaggwa, Sam S; Lubwama, Alex A; , ; , ; Stram, Daniel O DO; Watya, Stephen S; Henderson, Brian E BE; Conti, David V DV; Reich, David D; Haiman, Christopher A CA

Publication Date: 2016-01-15

Variant appearance in text: CYP8B1: Pro477Pro; rs735320

PubMed Link: 26604137

Variant Present in the following documents:

• Main text

View BVdb publication page

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Phase II Trial of Sorafenib in Patients with Chemotherapy Refractory Metastatic Esophageal and Gastroesophageal (GE) Junction Cancer.

Plos One

Janjigian, Yelena Y YY; Vakiani, Efsevia E; Ku, Geoffrey Y GY; Herrera, Jessica M JM; Tang, Laura H LH; Bouvier, Nancy N; Viale, Agnès A; Socci, Nicholas D ND; Capanu, Marinela M; Berger, Michael M; Ilson, David H DH

Publication Date: 2015

Variant appearance in text: CYP8B1: 1431G>A; P477P; rs735320

PubMed Link: 26275293

Variant Present in the following documents:

• pone.0134731.s005.xls, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: CYP8B1: P477P; rs735320

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers

Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N

Publication Date: 2015

Variant appearance in text: rs735320

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CYP8B1: P477P; rs735320

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports

Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK

Publication Date: 2014

Variant appearance in text: rs735320

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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