Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: FMO3: E308G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs2266780

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Impact of genetic variants in the nicotine metabolism pathway on nicotine metabolite levels in smokers.

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; Watson, Christy J W CJW; Chen, Gang G; Thomas, Claire E CE; Adams-Haduch, Jennifer J; Wang, Renwei R; Khor, Chiea Chuen CC; Koh, Woon-Puay WP; Nelson, Heather H HH; Yuan, Jian-Min JM; Lazarus, Philip P

Publication Date: 2022-10-17

Variant appearance in text: rs2266780

PubMed Link: 36252563

Variant Present in the following documents:

• Main text
• 54.pdf

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: FMO3: E308G; rs2266780

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association

Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J

Publication Date: 2022-10-04

Variant appearance in text: rs2266780

PubMed Link: 36193932

Variant Present in the following documents:

• JAH3-11-e025245.pdf

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: FMO3: E308G; rs2266780

PubMed Link: 36075891

Variant Present in the following documents:

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

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: FMO3: 923A>G; Glu308Gly; rs2266780

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

View BVdb publication page

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Impact of polymorphisms of pharmacokinetics-related genes and the inflammatory response on the metabolism of voriconazole.

Pharmacology Research & Perspectives

Aiuchi, Naoya N; Nakagawa, Junichi J; Sakuraba, Hirotake H; Takahata, Takenori T; Kamata, Kosuke K; Saito, Norihiro N; Ueno, Kayo K; Ishiyama, Masahiro M; Yamagata, Kazufumi K; Kayaba, Hiroyuki H; Niioka, Takenori T

Publication Date: 2022-04

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 35199485

Variant Present in the following documents:

• Main text
• PRP2-10-e00935.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Rapid detection of FMO3 single nucleotide polymorphisms using a pyrosequencing method.

Molecular Medicine Reports

Park, Jin-Woo JW; Park, In-Hwan IH; Kim, Jong-Min JM; Noh, Ji Hyeon JH; Kim, Kyoung-Ah KA; Park, Ji-Young JY

Publication Date: 2022-02

Variant appearance in text: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 34913068

Variant Present in the following documents:

• Main text
• mmr-25-02-12564.pdf

View BVdb publication page

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Rapid detection of FMO3 single nucleotide polymorphisms using a pyrosequencing method.

Molecular Medicine Reports

Park, Jin-Woo JW; Park, In-Hwan IH; Kim, Jong-Min JM; Noh, Ji Hyeon JH; Kim, Kyoung-Ah KA; Park, Ji-Young JY

Publication Date: 2022-02

Variant appearance in text: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 34913068

Variant Present in the following documents:

• Main text
• mmr-25-02-12564.pdf

View BVdb publication page

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Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes.

Molecules (Basel, Switzerland)

Alibrandi, Simona S; Nicita, Fabiana F; Donato, Luigi L; Scimone, Concetta C; Rinaldi, Carmela C; D'Angelo, Rosalia R; Sidoti, Antonina A

Publication Date: 2021-11-22

Variant appearance in text: FMO3: 923A>G; E308G

PubMed Link: 34834137

Variant Present in the following documents:

• Main text
• molecules-26-07045.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

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• 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: 2021-10-19

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Influence of FMO3 and CYP3A4 Polymorphisms on the Pharmacokinetics of Teneligliptin in Humans.

Frontiers In Pharmacology

Park, Jin-Woo JW; Kim, Kyoung-Ah KA; Kim, Jong-Min JM; Park, In-Hwan IH; Park, Ji-Young JY

Publication Date: 2021

Variant appearance in text: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 34512362

Variant Present in the following documents:

• Main text
• fphar-12-736317.pdf

View BVdb publication page

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Genetic Polymorphisms Associated With the Pharmacokinetics, Pharmacodynamics and Adverse Effects of Olanzapine, Aripiprazole and Risperidone.

Frontiers In Pharmacology

Soria-Chacartegui, Paula P; Villapalos-García, Gonzalo G; Zubiaur, Pablo P; Abad-Santos, Francisco F; Koller, Dora D

Publication Date: 2021

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 34335273

Variant Present in the following documents:

• Main text
• fphar-12-711940.pdf

View BVdb publication page

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Genetic Predictors for Sinusoidal Obstruction Syndrome-A Systematic Review.

Journal Of Personalized Medicine

Waespe, Nicolas N; Strebel, Sven S; Jurkovic Mlakar, Simona S; Krajinovic, Maja M; Kuehni, Claudia Elisabeth CE; Nava, Tiago T; Ansari, Marc M

Publication Date: 2021-04-26

Variant appearance in text: rs2266780

PubMed Link: 33925809

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One

Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S

Publication Date: 2021

Variant appearance in text: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 33770142

Variant Present in the following documents:

• pone.0249324.s003.xlsx, sheet 2
• pone.0249324.s003.xlsx, sheet 3

View BVdb publication page

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Impact of trimethylaminuria on daily psychosocial functioning.

Jimd Reports

Roddy, Daniel D; McCarthy, Philomena P; Nerney, Darragh D; Mulligan-Rabbitt, Jennifer J; Smith, Edwin E; Treacy, Eileen P EP

Publication Date: 2021-01

Variant appearance in text: FMO3: Glu308Gly

PubMed Link: 33473342

Variant Present in the following documents:

• Main text
• JMD2-57-67.pdf

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: rs2266780

PubMed Link: 33424349

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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How Can Drug Metabolism and Transporter Genetics Inform Psychotropic Prescribing?

Frontiers In Genetics

Carvalho Henriques, Beatriz B; Yang, Esther H EH; Lapetina, Diego D; Carr, Michael S MS; Yavorskyy, Vasyl V; Hague, Joshua J; Aitchison, Katherine J KJ

Publication Date: 2020

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 33363564

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variation in 100 relevant pharmacogenes among emiratis with insights from understudied populations.

Scientific Reports

Al-Mahayri, Zeina N ZN; Patrinos, George P GP; Wattanapokayakit, Sukanya S; Iemwimangsa, Nareenart N; Fukunaga, Koya K; Mushiroda, Taisei T; Chantratita, Wasun W; Ali, Bassam R BR

Publication Date: 2020-12-04

Variant appearance in text: rs2266780

PubMed Link: 33277594

Variant Present in the following documents:

• Main text
• 41598_2020_Article_78231.pdf

View BVdb publication page

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Reference exome data for a Northern Brazilian population.

Scientific Data

Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB

Publication Date: 2020-10-21

Variant appearance in text: FMO3: 923A>G; Glu308Gly; rs2266780

PubMed Link: 33087711

Variant Present in the following documents:

• 41597_2020_703_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Effect of Choline Forms and Gut Microbiota Composition on Trimethylamine-N-Oxide Response in Healthy Men.

Nutrients

Cho, Clara E CE; Aardema, Niklas D J NDJ; Bunnell, Madison L ML; Larson, Deanna P DP; Aguilar, Sheryl S SS; Bergeson, Janet R JR; Malysheva, Olga V OV; Caudill, Marie A MA; Lefevre, Michael M

Publication Date: 2020-07-25

Variant appearance in text: FMO3: Glu308Gly

PubMed Link: 32722424

Variant Present in the following documents:

• nutrients-12-02220.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: FMO3: 923A>G; E308G; rs2266780

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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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Exploring Biologic Predictors Response Disparities to Atypical Antipsychotics among Blacks: A Quasi-Systematic Review.

Ethnicity & Disease

Jerome, Rebecca N RN; Pulley, Jill M JM; Sathe, Nila A NA; Krishnaswami, Shanthi S; Dickerson, Alyssa B AB; Worley, Katherine J KJ; Wilkins, Consuelo H CH

Publication Date: 2020

Variant appearance in text: FMO3: Glu308Gly; rs2266780

PubMed Link: 32269465

Variant Present in the following documents:

• Main text

View BVdb publication page

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Importance of genetic polymorphisms in liver transplantation outcomes.

World Journal Of Gastroenterology

Kelava, Tomislav T; Turcic, Petra P; Markotic, Antonio A; Ostojic, Ana A; Sisl, Dino D; Mrzljak, Anna A

Publication Date: 2020-03-28

Variant appearance in text: rs2266780

PubMed Link: 32256016

Variant Present in the following documents:

• Main text
• WJG-26-1273.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: FMO3: 923A>G; Glu308Gly; rs2266780

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Diagnosis and phenotypic assessment of trimethylaminuria, and its treatment with riboflavin: 1H NMR spectroscopy and genetic testing.

Orphanet Journal Of Rare Diseases

Bouchemal, Nadia N; Ouss, Lisa L; Brassier, Anaïs A; Barbier, Valérie V; Gobin, Stéphanie S; Hubert, Laurence L; de Lonlay, Pascale P; Le Moyec, Laurence L

Publication Date: 2019-09-18

Variant appearance in text: FMO3: Glu308Gly

PubMed Link: 31533761

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1174.pdf

View BVdb publication page

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The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

Jimd Reports

Doyle, Samantha S; O'Byrne, James J JJ; Nesbitt, Mandy M; Murphy, Daniel N DN; Abidin, Zaza Z; Byrne, Niall N; Pastores, Gregory G; Kirk, Richard R; Treacy, Eileen P EP

Publication Date: 2019-05

Variant appearance in text: FMO3: Glu308Gly

PubMed Link: 31240165

Variant Present in the following documents:

• Main text
• JMD2-47-35.pdf

View BVdb publication page

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Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, 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: rs2266780

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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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: FMO3: 923A>G; Glu308Gly

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Association of FMO3 Variants with Blood Pressure in the Atherosclerosis Risk in Communities Study.

International Journal Of Hypertension

Bryant, Tyler S TS; Duggal, Priya P; Yu, Bing B; Morrison, Alanna C AC; Shafi, Tariq T; Ehret, Georg G; Franceschini, Nora N; Boerwinkle, Eric E; Coresh, Josef J; Tin, Adrienne A

Publication Date: 2019

Variant appearance in text: rs2266780

PubMed Link: 30906589

Variant Present in the following documents:

• Main text
• IJHY2019-2137629.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12

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: FMO3: 923A>G; Glu308Gly; rs2266780

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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Estimating the age of the p.Cys433Arg variant in the MYOC gene in patients with primary open-angle glaucoma.

Plos One

Marques, Ana Maria AM; Ananina, Galina G; Costa, Vital Paulino VP; de Vasconcellos, José Paulo Cabral JPC; de Melo, Mônica Barbosa MB

Publication Date: 2018

Variant appearance in text: rs2266780

PubMed Link: 30444892

Variant Present in the following documents:

• Main text
• pone.0207409.pdf

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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: FMO3: E308G

PubMed Link: 30381441

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of TMAO-producer phenotype and host-diet-gut dysbiosis by carnitine challenge test in human and germ-free mice.

Gut

Wu, Wei-Kai WK; Chen, Chieh-Chang CC; Liu, Po-Yu PY; Panyod, Suraphan S; Liao, Ben-Yang BY; Chen, Pei-Chen PC; Kao, Hsien-Li HL; Kuo, Han-Chun HC; Kuo, Ching-Hua CH; Chiu, Tina H T THT; Chen, Rou-An RA; Chuang, Hsiao-Li HL; Huang, Yen-Te YT; Zou, Hsin-Bai HB; Hsu, Cheng-Chih CC; Chang, Ting-Yan TY; Lin, Chin-Lon CL; Ho, Chi-Tang CT; Yu, Hon-Tsen HT; Sheen, Lee-Yan LY; Wu, Ming-Shiang MS

Publication Date: 2019-08

Variant appearance in text: FMO3: Glu308Gly

PubMed Link: 30377191

Variant Present in the following documents:

• Main text

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Trimethylamine N-Oxide: A Link among Diet, Gut Microbiota, Gene Regulation of Liver and Intestine Cholesterol Homeostasis and HDL Function.

International Journal Of Molecular Sciences

Canyelles, Marina M; Tondo, Mireia M; Cedó, Lídia L; Farràs, Marta M; Escolà-Gil, Joan Carles JC; Blanco-Vaca, Francisco F

Publication Date: 2018-10-19

Variant appearance in text: FMO3: E308G

PubMed Link: 30347638

Variant Present in the following documents:

• Main text
• ijms-19-03228.pdf

View BVdb publication page

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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: FMO3: 923A>G; Glu308Gly; rs2266780

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: FMO3: E308G; rs2266780

PubMed Link: 30206299

Variant Present in the following documents:

• 41397_2018_44_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: FMO3: 923A>G; E308G; rs2266780

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7

View BVdb publication page

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Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget

Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D

Publication Date: 2017-12-01

Variant appearance in text: FMO3: E308G

PubMed Link: 29285300

Variant Present in the following documents:

• oncotarget-08-105882-s002.xlsx, sheet 1

View BVdb publication page

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Genetic and Nongenetic Factors Associated with Protein Abundance of Flavin-Containing Monooxygenase 3 in Human Liver.

The Journal Of Pharmacology And Experimental Therapeutics

Xu, Meijuan M; Bhatt, Deepak Kumar DK; Yeung, Catherine K CK; Claw, Katrina G KG; Chaudhry, Amarjit S AS; Gaedigk, Andrea A; Pearce, Robin E RE; Broeckel, Ulrich U; Gaedigk, Roger R; Nickerson, Deborah A DA; Schuetz, Erin E; Rettie, Allan E AE; Leeder, J Steven JS; Thummel, Kenneth E KE; Prasad, Bhagwat B

Publication Date: 2017-11

Variant appearance in text: FMO3: E308G; rs2266780

PubMed Link: 28819071

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Association of Combined GSTM1 and CYP2C9 Genotype Status with the Occurrence of Hemorrhagic Cystitis in Pediatric Patients Receiving Myeloablative Conditioning Regimen Prior to Allogeneic Hematopoietic Stem Cell Transplantation.

Frontiers In Pharmacology

Uppugunduri, Chakradhara Rao S CRS; Storelli, Flavia F; Mlakar, Vid V; Huezo-Diaz Curtis, Patricia P; Rezgui, Aziz A; Théorêt, Yves Y; Marino, Denis D; Doffey-Lazeyras, Fabienne F; Chalandon, Yves Y; Bader, Peter P; Daali, Youssef Y; Bittencourt, Henrique H; Krajinovic, Maja M; Ansari, Marc M

Publication Date: 2017

Variant appearance in text: FMO3: Glu308Gly; rs2266780

PubMed Link: 28744217

Variant Present in the following documents:

• Main text

View BVdb publication page

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