Publications:

---

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: CYP3A5: 432+2T>C

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

---

Genetic factors underlying tacrolimus intolerance after liver transplantation.

Frontiers In Immunology

Liu, Yuan Y; Wang, Rui R; Wen, Peizhen P; An, Wenbin W; Zheng, Jinxin J; Zhang, Tao T; Zhang, Pengshan P; Wang, Haoyu H; Zou, Fan F; Pan, Hui H; Fan, Junwei J; Peng, Zhihai Z

Publication Date: 2022

Variant appearance in text: rs55965422

PubMed Link: 36248867

Variant Present in the following documents:

• Main text
• fimmu-13-944442.pdf

View BVdb publication page

---

Caffeine Therapy for Apnea of Prematurity: Role of the Circadian CLOCK Gene Polymorphism.

Frontiers In Pharmacology

Guo, Hong-Li HL; Long, Jia-Yi JY; Hu, Ya-Hui YH; Liu, Yun Y; He, Xin X; Li, Ling L; Xia, Ying Y; Ding, Xuan-Sheng XS; Chen, Feng F; Xu, Jing J; Cheng, Rui R

Publication Date: 2021

Variant appearance in text: rs55965422

PubMed Link: 35145399

Variant Present in the following documents:

• Main text
• fphar-12-724145.pdf

View BVdb publication page

---

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: rs55965422

PubMed Link: 34621706

Variant Present in the following documents:

• Main text
• tcp-29-135-s001.xls, sheet 1
• tcp-29-135.pdf

View BVdb publication page

---

Genetic variants related to successful migraine prophylaxis with verapamil.

Molecular Genetics & Genomic Medicine

Cutrer, Fred Michael FM; Moyer, Ann M AM; Atkinson, Elizabeth J EJ; Wang, Liguo L; Tian, Shulan S; Wu, Yanhong Y; Garza, Ivan I; Robertson, Carrie E CE; Huebert, Carey A CA; Moore, Brenda E BE; Klein, Christopher J CJ

Publication Date: 2021-06

Variant appearance in text: rs55965422

PubMed Link: 33829662

Variant Present in the following documents:

• Main text
• MGG3-9-e1680.pdf

View BVdb publication page

---

Genetic variants related to successful migraine prophylaxis with verapamil.

Molecular Genetics & Genomic Medicine

Cutrer, Fred Michael FM; Moyer, Ann M AM; Atkinson, Elizabeth J EJ; Wang, Liguo L; Tian, Shulan S; Wu, Yanhong Y; Garza, Ivan I; Robertson, Carrie E CE; Huebert, Carey A CA; Moore, Brenda E BE; Klein, Christopher J CJ

Publication Date: 2021-06

Variant appearance in text: rs55965422

PubMed Link: 33829662

Variant Present in the following documents:

• Main text
• MGG3-9-e1680.pdf

View BVdb publication page

---

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: CYP3A5: 432+2T>C; rs55965422

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

View BVdb publication page

---

Association of CYP3A5 Gene Polymorphisms and Amlodipine-Induced Peripheral Edema in Chinese Han Patients with Essential Hypertension.

Pharmacogenomics And Personalized Medicine

Liang, Hao H; Zhang, Xinru X; Ma, Zhuo Z; Sun, Yan Y; Shu, Chang C; Zhu, Yihua Y; Zhang, Yanwei Y; Hu, Songnian S; Fu, Xiujuan X; Liu, Lihong L

Publication Date: 2021

Variant appearance in text: rs55965422

PubMed Link: 33564260

Variant Present in the following documents:

• Main text
• pgpm-14-189.pdf

View BVdb publication page

---

Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing.

Scientific Reports

Nanki, Yoshiko Y; Chiyoda, Tatsuyuki T; Hirasawa, Akira A; Ookubo, Aki A; Itoh, Manabu M; Ueno, Masaru M; Akahane, Tomoko T; Kameyama, Kaori K; Yamagami, Wataru W; Kataoka, Fumio F; Aoki, Daisuke D

Publication Date: 2020-07-28

Variant appearance in text: CYP3A5: 432+2T>C

PubMed Link: 32724113

Variant Present in the following documents:

• 41598_2020_69488_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics

Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR

Publication Date: 2021-01

Variant appearance in text: rs55965422

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Pharmacogenomics Clinical Annotation Tool (PharmCAT).

Clinical Pharmacology And Therapeutics

Sangkuhl, Katrin K; Whirl-Carrillo, Michelle M; Whaley, Ryan M RM; Woon, Mark M; Lavertu, Adam A; Altman, Russ B RB; Carter, Lester L; Verma, Anurag A; Ritchie, Marylyn D MD; Klein, Teri E TE

Publication Date: 2020-01

Variant appearance in text: rs55965422

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

---

Influence of Genetic Variants on Steady-State Etonogestrel Concentrations Among Contraceptive Implant Users.

Obstetrics And Gynecology

Lazorwitz, Aaron A; Aquilante, Christina L CL; Oreschak, Kris K; Sheeder, Jeanelle J; Guiahi, Maryam M; Teal, Stephanie S

Publication Date: 2019-04

Variant appearance in text: rs55965422

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Plasma extracellular nanovesicle (exosome)-derived biomarkers for drug metabolism pathways: a novel approach to characterize variability in drug exposure.

British Journal Of Clinical Pharmacology

Rowland, Andrew A; Ruanglertboon, Warit W; van Dyk, Madelé M; Wijayakumara, Dhilushi D; Wood, Linda S LS; Meech, Robyn R; Mackenzie, Peter I PI; Rodrigues, A David AD; Marshall, Jean-Claude JC; Sorich, Michael J MJ

Publication Date: 2019-01

Variant appearance in text: rs55965422

PubMed Link: 30340248

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: CYP3A5: 432+2T>C; rs55965422

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

---

Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.

American Journal Of Medical Genetics. Part A

Padula, Amy M AM; Yang, Wei W; Schultz, Kathleen K; Lurmann, Fred F; Hammond, S Katharine SK; Shaw, Gary M GM

Publication Date: 2018-05

Variant appearance in text: rs55965422

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular characterization of breast cancer cell response to metabolic drugs.

Oncotarget

Trilla-Fuertes, Lucía L; Gámez-Pozo, Angelo A; Arevalillo, Jorge M JM; Díaz-Almirón, Mariana M; Prado-Vázquez, Guillermo G; Zapater-Moros, Andrea A; Navarro, Hilario H; Aras-López, Rosa R; Dapía, Irene I; López-Vacas, Rocío R; Nanni, Paolo P; Llorente-Armijo, Sara S; Arias, Pedro P; Borobia, Alberto M AM; Maín, Paloma P; Feliú, Jaime J; Espinosa, Enrique E; Fresno Vara, Juan Ángel JÁ

Publication Date: 2018-02-09

Variant appearance in text: CYP3A5: 432+2T>C; rs55965422

PubMed Link: 29515760

Variant Present in the following documents:

• Main text
• oncotarget-09-9645-s002.xlsx, sheet 2
• oncotarget-09-9645.pdf

View BVdb publication page

---

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: rs55965422

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.

Clinical And Translational Science

Borobia, Alberto M AM; Dapia, Irene I; Tong, Hoi Y HY; Arias, Pedro P; Muñoz, Mario M; Tenorio, Jair J; Hernández, Rafael R; García García, Irene I; Gordo, Gema G; Ramírez, Elena E; Frías, Jesús J; Lapunzina, Pablo P; Carcas, Antonio J AJ

Publication Date: 2018-03

Variant appearance in text: rs55965422

PubMed Link: 29193749

Variant Present in the following documents:

• Main text
• CTS-11-189.pdf

View BVdb publication page

---

Worldwide Distribution of Cytochrome P450 Alleles: A Meta-analysis of Population-scale Sequencing Projects.

Clinical Pharmacology And Therapeutics

Zhou, Y Y; Ingelman-Sundberg, M M; Lauschke, V M VM

Publication Date: 2017-10

Variant appearance in text: rs55965422

PubMed Link: 28378927

Variant Present in the following documents:

• Main text
• CPT-102-688.pdf

View BVdb publication page

---

Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs55965422

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s004.xlsx, sheet 2
• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

---

Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.

Bmc Genetics

Iskakova, Aisha N AN; Romanova, Aliya A AA; Aitkulova, Akbota M AM; Sikhayeva, Nurgul S NS; Zholdybayeva, Elena V EV; Ramanculov, Erlan M EM

Publication Date: 2016-01-19

Variant appearance in text: rs55965422

PubMed Link: 26785747

Variant Present in the following documents:

• Main text
• 12863_2016_Article_329.pdf

View BVdb publication page

---

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: rs55965422

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

---

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: rs55965422

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

---

Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs55965422

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Screening of Genetic Polymorphisms of CYP3A4 and CYP3A5 Genes.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology

Lee, Jin Sol JS; Cheong, Hyun Sub HS; Kim, Lyoung Hyo LH; Kim, Ji On JO; Seo, Doo Won DW; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD

Publication Date: 2013-12

Variant appearance in text: rs55965422

PubMed Link: 24381495

Variant Present in the following documents:

• kjpp-17-479.pdf

View BVdb publication page

---