Publications:

---

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Plos One

Goljan, Ewa E; Abouelhoda, Mohammed M; ElKalioby, Mohamed M MM; Jabaan, Amjad A; Alghithi, Nada N; Meyer, Brian F BF; Monies, Dorota D

Publication Date: 2022

Variant appearance in text: CYP2C19: R442C; rs192154563

PubMed Link: 35089958

Variant Present in the following documents:

• Main text
• pone.0263137.pdf
• pone.0263137.s001.xlsx, sheet 1

View BVdb publication page

---

Evaluation of clinical and genetic factors in the population pharmacokinetics of carbamazepine.

British Journal Of Clinical Pharmacology

Yip, Vincent L M VLM; Pertinez, Henry H; Meng, Xiaoli X; Maggs, James L JL; Carr, Daniel F DF; Park, B Kevin BK; Marson, Anthony G AG; Pirmohamed, Munir M

Publication Date: 2021-06

Variant appearance in text: rs192154563

PubMed Link: 33217013

Variant Present in the following documents:

• Main text
• BCP-87-2572.pdf

View BVdb publication page

---

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Clinical And Translational Science

Scott, Stuart A SA; Scott, Erick R ER; Seki, Yoshinori Y; Chen, Annette J AJ; Wallsten, Richard R; Owusu Obeng, Aniwaa A; Botton, Mariana R MR; Cody, Neal N; Shi, Huanzhi H; Zhao, Geping G; Brake, Paul P; Nicoletti, Paola P; Yang, Yao Y; Delio, Maria M; Shi, Lisong L; Kornreich, Ruth R; Schadt, Eric E EE; Edelmann, Lisa L

Publication Date: 2021-01

Variant appearance in text: N/A

PubMed Link: 32931151

Variant Present in the following documents:

View BVdb publication page

---

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Clinical And Translational Science

Zhang, Lingxin L; Sarangi, Vivekananda V; Moon, Irene I; Yu, Jia J; Liu, Duan D; Devarajan, Sandhya S; Reid, Joel M JM; Kalari, Krishna R KR; Wang, Liewei L; Weinshilboum, Richard R

Publication Date: 2020-07

Variant appearance in text: CYP2C19: 1324C>T; R442C; rs192154563

PubMed Link: 32004414

Variant Present in the following documents:

• Main text
• CTS-13-727.pdf

View BVdb publication page

---

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: rs192154563

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 19

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: rs192154563

PubMed Link: 31306493

Variant Present in the following documents:

• CPT-107-203-s004.pdf

View BVdb publication page

---

Coverage rate of ADME genes from commercial sequencing arrays.

Medicine

Zaid, Nabil N; Limami, Youness Y; Senhaji, Nezha N; Errafiy, Nadia N; Khalki, Loubna L; Bakri, Youssef Y; Zaid, Younes Y; Amzazi, Saaid S

Publication Date: 2019-01

Variant appearance in text: rs192154563

PubMed Link: 30653102

Variant Present in the following documents:

• Main text
• medi-98-e13975.pdf

View BVdb publication page

---

An optimized prediction framework to assess the functional impact of pharmacogenetic variants.

The Pharmacogenomics Journal

Zhou, Yitian Y; Mkrtchian, Souren S; Kumondai, Masaki M; Hiratsuka, Masahiro M; Lauschke, Volker M VM

Publication Date: 2019-04

Variant appearance in text: CYP2C19: R442C; rs192154563

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Cytochrome P450: Polymorphisms and Roles in Cancer, Diabetes and Atherosclerosis

Asian Pacific Journal Of Cancer Prevention : Apjcp

Elfaki, Imadeldin I; Mir, Rashid R; Almutairi, Fahad M FM; Duhier, Faisel M Abu FMA

Publication Date: 2018-08-24

Variant appearance in text: CYP2C19: R442C

PubMed Link: 30139042

Variant Present in the following documents:

• Main text
• APJCP-19-2057.pdf

View BVdb publication page

---

Pharmacogenomic Impact of CYP2C19 Variation on Clopidogrel Therapy in Precision Cardiovascular Medicine.

Journal Of Personalized Medicine

Brown, Sherry-Ann SA; Pereira, Naveen N

Publication Date: 2018-01-30

Variant appearance in text: CYP2C19: R442C; rs192154563

PubMed Link: 29385765

Variant Present in the following documents:

• Main text
• jpm-08-00008.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: rs192154563

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: CYP2C19: R442C; rs192154563

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: rs192154563

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

---

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs192154563

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: CYP2C19: R442C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

---

Polymorphic cytochrome P450 enzymes (CYPs) and their role in personalized therapy.

Plos One

Preissner, Sarah C SC; Hoffmann, Michael F MF; Preissner, Robert R; Dunkel, Mathias M; Gewiess, Andreas A; Preissner, Saskia S

Publication Date: 2013

Variant appearance in text: CYP2C19: R442C

PubMed Link: 24340040

Variant Present in the following documents:

• Main text
• pone.0082562.pdf

View BVdb publication page

---

Clinical Application of CYP2C19 Pharmacogenetics Toward More Personalized Medicine.

Frontiers In Genetics

Lee, Su-Jun SJ

Publication Date: 2012

Variant appearance in text: CYP2C19: Arg442Cys

PubMed Link: 23378847

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular mechanisms of genetic variation and transcriptional regulation of CYP2C19.

Frontiers In Genetics

Helsby, Nuala Ann NA; Burns, Kathryn Elisa KE

Publication Date: 2012

Variant appearance in text: CYP2C19: R442C

PubMed Link: 23087703

Variant Present in the following documents:

• Main text
• fgene-03-00206.pdf

View BVdb publication page

---

PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19.

Pharmacogenetics And Genomics

Scott, Stuart A SA; Sangkuhl, Katrin K; Shuldiner, Alan R AR; Hulot, Jean-Sébastien JS; Thorn, Caroline F CF; Altman, Russ B RB; Klein, Teri E TE

Publication Date: 2012-02

Variant appearance in text: CYP2C19: 1324C>T; R442C

PubMed Link: 22027650

Variant Present in the following documents:

• Main text

View BVdb publication page

---