Publications:

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Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: rs6661174

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
• 12920_2023_1442_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: rs6661174

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs6661174

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: rs6661174

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

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs6661174

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs6661174

PubMed Link: 34721006

Variant Present in the following documents:

• datasheet1.pdf

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: rs6661174

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: rs6661174

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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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: rs6661174

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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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: rs6661174

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility.

Cell Discovery

Wang, Fang F; Huang, Shujia S; Gao, Rongsui R; Zhou, Yuwen Y; Lai, Changxiang C; Li, Zhichao Z; Xian, Wenjie W; Qian, Xiaobo X; Li, Zhiyu Z; Huang, Yushan Y; Tang, Qiyuan Q; Liu, Panhong P; Chen, Ruikun R; Liu, Rong R; Li, Xuan X; Tong, Xin X; Zhou, Xuan X; Bai, Yong Y; Duan, Gang G; Zhang, Tao T; Xu, Xun X; Wang, Jian J; Yang, Huanming H; Liu, Siyang S; He, Qing Q; Jin, Xin X; Liu, Lei L

Publication Date: 2020-11-10

Variant appearance in text: rs6661174

PubMed Link: 33298875

Variant Present in the following documents:

• 41421_2020_231_MOESM2_ESM.xlsx, sheet 5
• 41421_2020_231_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Khoe-San Genomes Reveal Unique Variation and Confirm the Deepest Population Divergence in Homo sapiens.

Molecular Biology And Evolution

Schlebusch, Carina M CM; Sjödin, Per P; Breton, Gwenna G; Günther, Torsten T; Naidoo, Thijessen T; Hollfelder, Nina N; Sjöstrand, Agnes E AE; Xu, Jingzi J; Gattepaille, Lucie M LM; Vicente, Mário M; Scofield, Douglas G DG; Malmström, Helena H; de Jongh, Michael M; Lombard, Marlize M; Soodyall, Himla H; Jakobsson, Mattias M

Publication Date: 2020-10-01

Variant appearance in text: rs6661174

PubMed Link: 32697301

Variant Present in the following documents:

• msaa140_supplementary_data.pdf

View BVdb publication page

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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: rs6661174

PubMed Link: 32607875

Variant Present in the following documents:

• 40262_2020_913_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted ultra-deep sequencing of a South African Bantu-speaking cohort to comprehensively map and characterize common and novel variants in 65 pharmacologically-related genes.

Pharmacogenetics And Genomics

Tshabalala, Sibongile S; Choudhury, Ananyo A; Beeton-Kempen, Natasha N; Martinson, Neil N; Ramsay, Michèle M; Mancama, Dalu D

Publication Date: 2019-09

Variant appearance in text: rs6661174

PubMed Link: 31162291

Variant Present in the following documents:

• pgen-29-167.pdf

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: rs6661174

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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Nicotine-N'-Oxidation by Flavin Monooxygenase Enzymes.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Perez-Paramo, Yadira X YX; Chen, Gang G; Ashmore, Joseph H JH; Watson, Christy J W CJW; Nasrin, Shamema S; Adams-Haduch, Jennifer J; Wang, Renwei R; Gao, Yu-Tang YT; Koh, Woon-Puay WP; Yuan, Jian-Min JM; Lazarus, Philip P

Publication Date: 2019-02

Variant appearance in text: rs6661174

PubMed Link: 30381441

Variant Present in the following documents:

• Main text

View BVdb publication page

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An ancestral human genetic variant linked to an ancient disease: A novel association of FMO2 polymorphisms with tuberculosis (TB) in Ethiopian populations provides new insight into the differential ethno-geographic distribution of FMO2*1.

Plos One

Mekonnen, Ephrem E; Bekele, Endashaw E

Publication Date: 2017

Variant appearance in text: rs6661174

PubMed Link: 28981537

Variant Present in the following documents:

• Main text
• pone.0184931.pdf

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: rs6661174

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: rs6661174

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Flavin-containing monooxygenase S-oxygenation of a series of thioureas and thiones.

Toxicology And Applied Pharmacology

Henderson, Marilyn C MC; Siddens, Lisbeth K LK; Krueger, Sharon K SK; Stevens, J Fred JF; Kedzie, Karen K; Fang, Wenkui K WK; Heidelbaugh, Todd T; Nguyen, Phong P; Chow, Ken K; Garst, Michael M; Gil, Daniel D; Williams, David E DE

Publication Date: 2014-07-15

Variant appearance in text: rs6661174

PubMed Link: 24727368

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mammalian flavin-containing monooxygenase (FMO) as a source of hydrogen peroxide.

Biochemical Pharmacology

Siddens, Lisbeth K LK; Krueger, Sharon K SK; Henderson, Marilyn C MC; Williams, David E DE

Publication Date: 2014-05-01

Variant appearance in text: rs6661174

PubMed Link: 24561181

Variant Present in the following documents:

• Main text

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: rs6661174

PubMed Link: 24352235

Variant Present in the following documents:

• NIHMS541101-supplement-1.pdf

View BVdb publication page

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Complex patterns of genomic admixture within southern Africa.

Plos Genetics

Petersen, Desiree C DC; Libiger, Ondrej O; Tindall, Elizabeth A EA; Hardie, Rae-Anne RA; Hannick, Linda I LI; Glashoff, Richard H RH; Mukerji, Mitali M; , ; Fernandez, Pedro P; Haacke, Wilfrid W; Schork, Nicholas J NJ; Hayes, Vanessa M VM

Publication Date: 2013

Variant appearance in text: rs6661174

PubMed Link: 23516368

Variant Present in the following documents:

• Main text
• pgen.1003309.pdf

View BVdb publication page

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Effects upon in-vivo nicotine metabolism reveal functional variation in FMO3 associated with cigarette consumption.

Pharmacogenetics And Genomics

Bloom, A Joseph AJ; Murphy, Sharon E SE; Martinez, Maribel M; von Weymarn, Linda B LB; Bierut, Laura J LJ; Goate, Alison A

Publication Date: 2013-02

Variant appearance in text: rs6661174

PubMed Link: 23211429

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gene inactivation and its implications for annotation in the era of personal genomics.

Genes & Development

Balasubramanian, Suganthi S; Habegger, Lukas L; Frankish, Adam A; MacArthur, Daniel G DG; Harte, Rachel R; Tyler-Smith, Chris C; Harrow, Jennifer J; Gerstein, Mark M

Publication Date: 2011-01-01

Variant appearance in text: rs6661174

PubMed Link: 21205862

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of sulfoxygenation and structural implications of human flavin-containing monooxygenase isoform 2 (FMO2.1) variants S195L and N413K.

Drug Metabolism And Disposition: The Biological Fate Of Chemicals

Krueger, Sharon K SK; Henderson, Marilyn C MC; Siddens, Lisbeth K LK; VanDyke, Jonathan E JE; Benninghoff, Abby D AD; Karplus, P Andrew PA; Furnes, Bjarte B; Schlenk, Daniel D; Williams, David E DE

Publication Date: 2009-08

Variant appearance in text: rs6661174

PubMed Link: 19420133

Variant Present in the following documents:

• Main text

View BVdb publication page

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A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs.

American Journal Of Human Genetics

Yngvadottir, Bryndis B; Xue, Yali Y; Searle, Steve S; Hunt, Sarah S; Delgado, Marcos M; Morrison, Jonathan J; Whittaker, Pamela P; Deloukas, Panos P; Tyler-Smith, Chris C

Publication Date: 2009-02

Variant appearance in text: rs6661174

PubMed Link: 19200524

Variant Present in the following documents:

• Main text

View BVdb publication page

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The potentially deleterious functional variant flavin-containing monooxygenase 2*1 is at high frequency throughout sub-Saharan Africa.

Pharmacogenetics And Genomics

Veeramah, Krishna R KR; Thomas, Mark G MG; Weale, Michael E ME; Zeitlyn, David D; Tarekegn, Ayele A; Bekele, Endashaw E; Mendell, Nancy R NR; Shephard, Elizabeth A EA; Bradman, Neil N; Phillips, Ian R IR

Publication Date: 2008-10

Variant appearance in text: rs6661174

PubMed Link: 18794725

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of mouse flavin-containing monooxygenase transcript levels in lung and liver, and activity of expressed isoforms.

Biochemical Pharmacology

Siddens, Lisbeth K LK; Henderson, Marilyn C MC; Vandyke, Jonathan E JE; Williams, David E DE; Krueger, Sharon K SK

Publication Date: 2008-01-15

Variant appearance in text: rs6661174

PubMed Link: 17942081

Variant Present in the following documents:

• Main text

View BVdb publication page

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Haplotype and functional analysis of four flavin-containing monooxygenase isoform 2 (FMO2) polymorphisms in Hispanics.

Pharmacogenetics And Genomics

Krueger, Sharon K SK; Siddens, Lisbeth K LK; Henderson, Marilyn C MC; Andreasen, Eric A EA; Tanguay, Robert L RL; Pereira, Clifford B CB; Cabacungan, Erwin T ET; Hines, Ronald N RN; Ardlie, Kristin G KG; Williams, David E DE

Publication Date: 2005-04

Variant appearance in text: rs6661174

PubMed Link: 15864117

Variant Present in the following documents:

• Main text

View BVdb publication page

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