Publications:

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Contribution of Genetic Polymorphisms in Human Health.

International Journal Of Environmental Research And Public Health

Chiarella, Pieranna P; Capone, Pasquale P; Sisto, Renata R

Publication Date: 2023-01-04

Variant appearance in text: rs4987076

PubMed Link: 36673670

Variant Present in the following documents:

• ijerph-20-00912.pdf

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: rs4987076

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 16

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Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Saudi Journal Of Biological Sciences

Aboul-Soud, Mourad A M MAM; Alzahrani, Alhussain J AJ; Mahmoud, Amer A

Publication Date: 2021-01

Variant appearance in text: rs4987076

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Targeted next generation sequencing as a tool for precision medicine.

Bmc Medical Genomics

Gulilat, Markus M; Lamb, Tyler T; Teft, Wendy A WA; Wang, Jian J; Dron, Jacqueline S JS; Robinson, John F JF; Tirona, Rommel G RG; Hegele, Robert A RA; Kim, Richard B RB; Schwarz, Ute I UI

Publication Date: 2019-06-03

Variant appearance in text: rs4987076

PubMed Link: 31159795

Variant Present in the following documents:

• 12920_2019_527_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs4987076

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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K-variant BCHE and pesticide exposure: Gene-environment interactions in a case-control study of Parkinson's disease in Egypt.

Scientific Reports

Rösler, Thomas W TW; Salama, Mohamed M; Shalash, Ali S AS; Khedr, Eman M EM; El-Tantawy, Abdelhalim A; Fawi, Gharib G; El-Motayam, Amal A; El-Seidy, Ehab E; El-Sherif, Mohamed M; El-Gamal, Mohamed M; Moharram, Mohamed M; El-Kattan, Mohammad M; Abdel-Naby, Muhammad M; Ashour, Samia S; Müller, Ulrich U; Dempfle, Astrid A; Kuhlenbäumer, Gregor G; Höglinger, Günter U GU

Publication Date: 2018-11-08

Variant appearance in text: rs4987076

PubMed Link: 30410011

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35003.pdf

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: rs4987076

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature

Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyö, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,

Publication Date: 2016-06-02

Variant appearance in text: rs4987076

PubMed Link: 27251275

Variant Present in the following documents:

• NIHMS778057-supplement-supp_table5.xlsx, sheet 2

View BVdb publication page

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Passive rGE or Developmental Gene-Environment Cascade? An Investigation of the Role of Xenobiotic Metabolism Genes in the Association Between Smoke Exposure During Pregnancy and Child Birth Weight.

Behavior Genetics

Marceau, Kristine K; Palmer, Rohan H C RH; Neiderhiser, Jenae M JM; Smith, Taylor F TF; McGeary, John E JE; Knopik, Valerie S VS

Publication Date: 2016-05

Variant appearance in text: rs4987076

PubMed Link: 26803317

Variant Present in the following documents:

• Main text

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: rs4987076

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, 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: rs4987076

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: rs4987076

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11

View BVdb publication page

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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine

Freudenberg-Hua, Yun Y; Freudenberg, Jan J; Vacic, Vladimir V; Abhyankar, Avinash A; Emde, Anne-Katrin AK; Ben-Avraham, Danny D; Barzilai, Nir N; Oschwald, Dayna D; Christen, Erika E; Koppel, Jeremy J; Greenwald, Blaine B; Darnell, Robert B RB; Germer, Soren S; Atzmon, Gil G; Davies, Peter P

Publication Date: 2014-09

Variant appearance in text: rs4987076

PubMed Link: 25333069

Variant Present in the following documents:

• Main text
• mgg30002-0438.pdf

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: rs4987076

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs4987076

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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The complete genome sequence of a Neanderthal from the Altai Mountains.

Nature

Prüfer, Kay K; Racimo, Fernando F; Patterson, Nick N; Jay, Flora F; Sankararaman, Sriram S; Sawyer, Susanna S; Heinze, Anja A; Renaud, Gabriel G; Sudmant, Peter H PH; de Filippo, Cesare C; Li, Heng H; Mallick, Swapan S; Dannemann, Michael M; Fu, Qiaomei Q; Kircher, Martin M; Kuhlwilm, Martin M; Lachmann, Michael M; Meyer, Matthias M; Ongyerth, Matthias M; Siebauer, Michael M; Theunert, Christoph C; Tandon, Arti A; Moorjani, Priya P; Pickrell, Joseph J; Mullikin, James C JC; Vohr, Samuel H SH; Green, Richard E RE; Hellmann, Ines I; Johnson, Philip L F PL; Blanche, Hélène H; Cann, Howard H; Kitzman, Jacob O JO; Shendure, Jay J; Eichler, Evan E EE; Lein, Ed S ES; Bakken, Trygve E TE; Golovanova, Liubov V LV; Doronichev, Vladimir B VB; Shunkov, Michael V MV; Derevianko, Anatoli P AP; Viola, Bence B; Slatkin, Montgomery M; Reich, David D; Kelso, Janet J; Pääbo, Svante S

Publication Date: 2014-01-02

Variant appearance in text: rs4987076

PubMed Link: 24352235

Variant Present in the following documents:

• NIHMS541101-supplement-1.pdf

View BVdb publication page

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Smoking, variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2), and risk of non-Hodgkin lymphoma: a pooled analysis within the InterLymph consortium.

Cancer Causes & Control : Ccc

Gibson, Todd M TM; Smedby, Karin E KE; Skibola, Christine F CF; Hein, David W DW; Slager, Susan L SL; de Sanjosé, Silvia S; Vajdic, Claire M CM; Zhang, Yawei Y; Chiu, Brian C-H BC; Wang, Sophia S SS; Hjalgrim, Henrik H; Nieters, Alexandra A; Bracci, Paige M PM; Kricker, Anne A; Zheng, Tongzhang T; Kolar, Carol C; Cerhan, James R JR; Darabi, Hatef H; Becker, Nikolaus N; Conde, Lucia L; Holford, Theodore R TR; Weisenburger, Dennis D DD; De Roos, Anneclaire J AJ; Butterbach, Katja K; Riby, Jacques J; Cozen, Wendy W; Benavente, Yolanda Y; Palmers, Casey C; Holly, Elizabeth A EA; Sampson, Joshua N JN; Rothman, Nathaniel N; Armstrong, Bruce K BK; Morton, Lindsay M LM

Publication Date: 2013-01

Variant appearance in text: rs4987076

PubMed Link: 23160945

Variant Present in the following documents:

• Main text

View BVdb publication page

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Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study.

Bmc Medical Genetics

Potts, Lisa F LF; Cambon, Alex C AC; Ross, Owen A OA; Rademakers, Rosa R; Dickson, Dennis W DW; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Rai, Shesh N SN; Farrer, Matthew J MJ; Hein, David W DW; Litvan, Irene I

Publication Date: 2012-03-17

Variant appearance in text: rs4987076

PubMed Link: 22424094

Variant Present in the following documents:

• Main text
• 1471-2350-13-16.pdf

View BVdb publication page

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No association between variant N-acetyltransferase genes, cigarette smoking and Prostate Cancer susceptibility among men of African descent.

Biomarkers In Cancer

Kidd, La Creis Renee LC; Vancleave, Tiva T TT; Doll, Mark A MA; Srivastava, Daya S DS; Thacker, Brandon B; Komolafe, Oyeyemi O; Pihur, Vasyl V; Brock, Guy N GN; Hein, David W DW

Publication Date: 2011-02-03

Variant appearance in text: rs4987076

PubMed Link: 21709725

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in cytochrome P450s, GSTs, NATs, alcohol consumption and risk of non-Hodgkin lymphoma.

American Journal Of Hematology

Li, Yonghong Y; Zheng, Tongzhang T; Kilfoy, Briseis A BA; Lan, Qing Q; Holford, Theodore T; Han, Xuesong X; Zhao, Ping P; Dai, Min M; Leaderer, Brian B; Rothman, Nat N; Zhang, Yawei Y

Publication Date: 2010-03

Variant appearance in text: rs4987076

PubMed Link: 20131310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms in the metabolic pathway and non-Hodgkin lymphoma survival.

American Journal Of Hematology

Han, Xuesong X; Zheng, Tongzhang T; Foss, Francine M FM; Lan, Qing Q; Holford, Theodore R TR; Rothman, Nathaniel N; Ma, Shuangge S; Zhang, Yawei Y

Publication Date: 2010-01

Variant appearance in text: rs4987076

PubMed Link: 20029944

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma.

American Journal Of Epidemiology

Zhang, Yawei Y; Hughes, Kathryn J KJ; Zahm, Shelia Hoar SH; Zhang, Yaqun Y; Holford, Theodore R TR; Dai, Li L; Bai, Yana Y; Han, Xuesong X; Qin, Qin Q; Lan, Qing Q; Rothman, Nathaniel N; Zhu, Yong Y; Leaderer, Brian B; Zheng, Tongzhang T

Publication Date: 2009-11-15

Variant appearance in text: rs4987076

PubMed Link: 19822571

Variant Present in the following documents:

• Main text

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: rs4987076

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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