Publications:

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Pharmacogenomic polygenic risk score for clopidogrel responsiveness among Caribbean Hispanics: A candidate gene approach.

Clinical And Translational Science

Duconge, Jorge J; Santiago, Ednalise E; Hernandez-Suarez, Dagmar F DF; Moneró, Mariangeli M; López-Reyes, Andrés A; Rosario, Marines M; Renta, Jessicca Y JY; González, Pablo P; Ileana Fernández-Morales, Laura L; Antonio Vélez-Figueroa, Luis L; Arce, Orlando O; Marín-Maldonado, Frances F; Nuñez, Héctor H; Melin, Kyle K; Scott, Stuart A SA; Ruaño, Gualberto G

Publication Date: 2021-11

Variant appearance in text: rs17878459

PubMed Link: 34415683

Variant Present in the following documents:

• Main text
• CTS-14-2254.pdf

View BVdb publication page

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Rare variants discovery by extensive whole-genome sequencing of the Han Chinese population in Taiwan: Applications to cardiovascular medicine.

Journal Of Advanced Research

Juang, Jyh-Ming Jimmy JJ; Lu, Tzu-Pin TP; Su, Ming-Wei MW; Lin, Chien-Wei CW; Yang, Jenn-Hwai JH; Chu, Hou-Wei HW; Chen, Chien-Hsiun CH; Hsiao, Yi-Wen YW; Lee, Chien-Yueh CY; Chiang, Li-Mei LM; Yu, Qi-You QY; Hsiao, Chuhsing Kate CK; Chen, Ching-Yu Julius CJ; Wu, Pei-Ei PE; Pai, Chien-Hua CH; Chuang, Eric Y EY; Shen, Chen-Yang CY

Publication Date: 2021-05

Variant appearance in text: rs17878459

PubMed Link: 34026292

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.

Birth Defects Research

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

Publication Date: 2021-05-15

Variant appearance in text: rs17878459

PubMed Link: 33569925

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs17878459

PubMed Link: 32004414

Variant Present in the following documents:

• CTS-13-727.pdf

View BVdb publication page

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Genetics and Extracellular Vesicles of Pediatrics Sleep Disordered Breathing and Epilepsy.

International Journal Of Molecular Sciences

Khalyfa, Abdelnaby A; Sanz-Rubio, David D

Publication Date: 2019-11-04

Variant appearance in text: rs17878459

PubMed Link: 31689970

Variant Present in the following documents:

• Main text
• ijms-20-05483.pdf

View BVdb publication page

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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: rs17878459

PubMed Link: 30870275

Variant Present in the following documents:

• Main text

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: rs17878459

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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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: rs17878459

PubMed Link: 29681089

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac arrest in a toddler treated with propranolol for infantile Hemangioma: a case report.

Italian Journal Of Pediatrics

Tosoni, Alvise A; Cutrone, Mario M; Dalle Carbonare, Maurizio M; Pettenazzo, Andrea A; Perilongo, Giorgio G; Sartori, Stefano S

Publication Date: 2017-11-17

Variant appearance in text: rs17878459

PubMed Link: 29149854

Variant Present in the following documents:

• Main text
• 13052_2017_Article_421.pdf

View BVdb publication page

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Genome-wide association study of bronchopulmonary dysplasia: a potential role for variants near the CRP gene.

Scientific Reports

Mahlman, Mari M; Karjalainen, Minna K MK; Huusko, Johanna M JM; Andersson, Sture S; Kari, M Anneli MA; Tammela, Outi K T OKT; Sankilampi, Ulla U; Lehtonen, Liisa L; Marttila, Riitta H RH; Bassler, Dirk D; Poets, Christian F CF; Lacaze-Masmonteil, Thierry T; Danan, Claude C; Delacourt, Christophe C; Palotie, Aarno A; Muglia, Louis J LJ; Lavoie, Pascal M PM; Hadchouel, Alice A; Rämet, Mika M; Hallman, Mikko M

Publication Date: 2017-08-24

Variant appearance in text: rs17878459

PubMed Link: 28839172

Variant Present in the following documents:

• 41598_2017_8977_MOESM1_ESM.pdf

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: rs17878459

PubMed Link: 26858644

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs17878459

PubMed Link: 26785747

Variant Present in the following documents:

• Main text
• 12863_2016_Article_329.pdf

View BVdb publication page

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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: rs17878459

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CYP2C19: 276G>A; E92E; rs17878459

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: rs17878459

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

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: rs17878459

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.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: rs17878459

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: CYP2C19: 276G>A; E92E; rs17878459

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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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: rs17878459

PubMed Link: 23565321

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs17878459

PubMed Link: 19164093

Variant Present in the following documents:

• 1479-7364-3-2-169.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs17878459

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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