Publications:

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs4917623

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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Pharmacogenetics of Praziquantel Metabolism: Evaluating the Cytochrome P450 Genes of Zimbabwean Patients During a Schistosomiasis Treatment.

Frontiers In Genetics

Zdesenko, Grace G; Mduluza, Takafira T; Mutapi, Francisca F

Publication Date: 2022

Variant appearance in text: rs4917623

PubMed Link: 35754834

Variant Present in the following documents:

• Main text
• fgene-13-914372.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: CYP2C19: 1150-106T>C; rs4917623

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Intratumoural Cytochrome P450 Expression in Breast Cancer: Impact on Standard of Care Treatment and New Efforts to Develop Tumour-Selective Therapies.

Biomedicines

Sneha, Smarakan S; Baker, Simon C SC; Green, Andrew A; Storr, Sarah S; Aiyappa, Radhika R; Martin, Stewart S; Pors, Klaus K

Publication Date: 2021-03-12

Variant appearance in text: rs4917623

PubMed Link: 33809117

Variant Present in the following documents:

• Main text
• biomedicines-09-00290.pdf

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: rs4917623

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 15

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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: rs4917623

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

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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: rs4917623

PubMed Link: 30653102

Variant Present in the following documents:

• Main text
• medi-98-e13975.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: CYP2C19: 1150-106T>C; rs4917623

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs4917623

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Interaction between dietary acrylamide intake and genetic variants for estrogen receptor-positive breast cancer risk.

European Journal Of Nutrition

Hogervorst, Janneke G F JGF; van den Brandt, Piet A PA; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2019-04

Variant appearance in text: rs4917623

PubMed Link: 29445914

Variant Present in the following documents:

View BVdb publication page

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The influence of single nucleotide polymorphisms on the association between dietary acrylamide intake and endometrial cancer risk.

Scientific Reports

Hogervorst, Janneke G F JG; van den Brandt, Piet A PA; Godschalk, Roger W L RW; van Schooten, Frederik-Jan FJ; Schouten, Leo J LJ

Publication Date: 2016-10-07

Variant appearance in text: rs4917623

PubMed Link: 27713515

Variant Present in the following documents:

View BVdb publication page

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Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.

Frontiers In Pharmacology

Chua, Eng Wee EW; Cree, Simone L SL; Ton, Kim N T KN; Lehnert, Klaus K; Shepherd, Phillip P; Helsby, Nuala N; Kennedy, Martin A MA

Publication Date: 2016

Variant appearance in text: rs4917623

PubMed Link: 26858644

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of CYP2C19*2 and associated haplotypes with lower norendoxifen concentrations in tamoxifen-treated Asian breast cancer patients.

British Journal Of Clinical Pharmacology

Lim, Joanne Siok Liu JS; Sutiman, Natalia N; Muerdter, Thomas E TE; Singh, Onkar O; Cheung, Yin Bun YB; Ng, Raymond Chee Hui RC; Yap, Yoon Sim YS; Wong, Nan Soon NS; Ang, Peter Cher Siang PC; Dent, Rebecca R; Schroth, Werner W; Schwab, Matthias M; Chowbay, Balram B

Publication Date: 2016-06

Variant appearance in text: rs4917623

PubMed Link: 26799162

Variant Present in the following documents:

• Main text

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Genotype‑phenotype analysis of CYP2C19 in the Tibetan population and its potential clinical implications in drug therapy.

Molecular Medicine Reports

Jin, Tianbo T; Zhang, Xiyang X; Geng, Tingting T; Shi, Xugang X; Wang, Li L; Yuan, Dongya D; Kang, Longli L

Publication Date: 2016-03

Variant appearance in text: rs4917623

PubMed Link: 26781306

Variant Present in the following documents:

• Main text
• mmr-13-03-2117.pdf

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Genetic polymorphisms and phenotypic analysis of drug-metabolizing enzyme CYP2C19 in a Li Chinese population.

International Journal Of Clinical And Experimental Pathology

Ding, Yipeng Y; Xu, Dongchuan D; Zhang, Xiyang X; Yang, Hua H; Geng, Tingting T; He, Ping P; Yao, Jinjian J; Yi, Shengyang S; Xu, Heping H; Wu, Duoyi D; Wang, Xiang X; Jin, Tianbo T

Publication Date: 2015

Variant appearance in text: rs4917623

PubMed Link: 26722519

Variant Present in the following documents:

• Main text

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs4917623

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

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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: rs4917623

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

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Variants in tamoxifen metabolizing genes: a case-control study of contralateral breast cancer risk in the WECARE study.

International Journal Of Molecular Epidemiology And Genetics

Brooks, Jennifer D JD; Teraoka, Sharon N SN; Malone, Kathleen E KE; Haile, Robert W RW; Bernstein, Leslie L; Lynch, Charles F CF; Mellemkjær, Lene L; Duggan, David J DJ; Reiner, Anne S AS; Concannon, Patrick P; Schiermeyer, Katherine K; Lewinger, Juan Pablo JP; , ; Bernstein, Jonine L JL; Figueiredo, Jane C JC

Publication Date: 2013

Variant appearance in text: rs4917623

PubMed Link: 23565321

Variant Present in the following documents:

• Main text

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Analysis of pharmacogenetic traits in two distinct South African populations.

Human Genomics

Ikediobi, Ogechi O; Aouizerat, Bradley B; Xiao, Yuanyuan Y; Gandhi, Monica M; Gebhardt, Stefan S; Warnich, Louise L

Publication Date: 2011-05

Variant appearance in text: rs4917623

PubMed Link: 21712189

Variant Present in the following documents:

• Main text
• 1479-7364-5-4-265.pdf

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Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness.

The Pharmacogenomics Journal

Scott, S A SA; Martis, S S; Peter, I I; Kasai, Y Y; Kornreich, R R; Desnick, R J RJ

Publication Date: 2012-08

Variant appearance in text: rs4917623

PubMed Link: 21358751

Variant Present in the following documents:

• Main text

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects.

Human Genomics

Matimba, Alice A; Del-Favero, Jurgen J; Van Broeckhoven, Christine C; Masimirembwa, Collen C

Publication Date: 2009-01

Variant appearance in text: rs4917623

PubMed Link: 19164093

Variant Present in the following documents:

• Main text
• 1479-7364-3-2-169.pdf

View BVdb publication page

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