Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FMO3: 913G>T; Glu305Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: 913G>T; E305X; rs61753344

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: FMO3: 913G>T; Glu305Ter; rs61753344

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: FMO3: E305X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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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: 913G>T; E305X; rs61753344

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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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: FMO3: 913G>T; E305*

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

View BVdb publication page

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Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Nature Communications

Subramanian, Deepak N DN; Zethoven, Magnus M; McInerny, Simone S; Morgan, James A JA; Rowley, Simone M SM; Lee, Jue Er Amanda JEA; Li, Na N; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG

Publication Date: 2020-04-02

Variant appearance in text: FMO3: 913G>T; Glu305Ter

PubMed Link: 32242007

Variant Present in the following documents:

• 41467_2020_15461_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT

Publication Date: 2020-02-11

Variant appearance in text: FMO3: 913G>T; Glu305*

PubMed Link: 31980526

Variant Present in the following documents:

• pnas.1909378117.sd01.xlsx, sheet 3

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: FMO3: 913G>T; Glu305Ter; rs61753344

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: FMO3: 913G>T; Glu305*; rs61753344

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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: 913G>T; Glu305*

PubMed Link: 31240165

Variant Present in the following documents:

• Main text
• JMD2-47-35.pdf

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: FMO3: E305X; rs61753344

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs61753344

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

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: E305X; rs61753344

PubMed Link: 28819071

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FMO3: 913G>T; Glu305Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Targeted sequencing identifies genetic polymorphisms of flavin-containing monooxygenase genes contributing to susceptibility of nicotine dependence in European American and African American.

Brain And Behavior

Zhang, Tian-Xiao TX; Saccone, Nancy L NL; Bierut, Laura J LJ; Rice, John P JP

Publication Date: 2017-04

Variant appearance in text: FMO3: E305X; rs61753344

PubMed Link: 28413702

Variant Present in the following documents:

• BRB3-7-e00651-s002.xlsx, sheet 1

View BVdb publication page

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A compound heterozygous mutation in the FMO3 gene: the first pediatric case causes fish odor syndrome in Korea.

Korean Journal Of Pediatrics

Kim, Ji Hyun JH; Cho, Sung Min SM; Chae, Jong-Hee JH

Publication Date: 2017-03

Variant appearance in text: FMO3: Glu305Ter

PubMed Link: 28392825

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

Bmc Medical Genetics

Guo, Yiran Y; Hwang, Liang-Dar LD; Li, Jiankang J; Eades, Jason J; Yu, Chung Wen CW; Mansfield, Corrine C; Burdick-Will, Alexis A; Chang, Xiao X; Chen, Yulan Y; Duke, Fujiko F FF; Zhang, Jianguo J; Fakharzadeh, Steven S; Fennessey, Paul P; Keating, Brendan J BJ; Jiang, Hui H; Hakonarson, Hakon H; Reed, Danielle R DR; Preti, George G

Publication Date: 2017-02-15

Variant appearance in text: FMO3: 913G>T; Glu305Ter; rs61753344

PubMed Link: 28196478

Variant Present in the following documents:

View BVdb publication page

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: FMO3: 913G>T; E305X; rs61753344

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: FMO3: 913G>T; E305*; rs61753344

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: FMO3: E305X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Fish Malodour syndrome in a child.

Bmj Case Reports

Oliveira, Alexandra A; Faria, Ana A; Oliva, Mónica M

Publication Date: 2015-04-13

Variant appearance in text: FMO3: E305X

PubMed Link: 25870212

Variant Present in the following documents:

• Main text

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs61753344

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

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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: rs61753344

PubMed Link: 25802476

Variant Present in the following documents:

• 542543.f1.xlsx, sheet 1

View BVdb publication page

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Clinical utility gene card for: Trimethylaminuria - update 2014.

European Journal Of Human Genetics : Ejhg

Shephard, Elizabeth A EA; Treacy, Eileen P EP; Phillips, Ian R IR

Publication Date: 2015-09

Variant appearance in text: FMO3: 913G>T; Glu305*

PubMed Link: 25335494

Variant Present in the following documents:

• Main text

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: rs61753344

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: FMO3: E305*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-8.xlsx, sheet 1

View BVdb publication page

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Quail FMO3 gene cloning, tissue expression profiling, polymorphism detection and association analysis with fishy taint in eggs.

Plos One

Mo, Fengtao F; Zheng, Jiangxia J; Wang, Peng P; Lian, Ling L; Yi, Guoqiang G; Xu, Guiyun G; Yang, Ning N

Publication Date: 2013

Variant appearance in text: FMO3: E305X

PubMed Link: 24282592

Variant Present in the following documents:

• Main text
• pone.0081416.pdf

View BVdb publication page

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Clinical utility gene card for: trimethylaminuria.

European Journal Of Human Genetics : Ejhg

Shephard, Elizabeth A EA; Treacy, Eileen P EP; Phillips, Ian R IR

Publication Date: 2012-03

Variant appearance in text: FMO3: Glu305X

PubMed Link: 22126753

Variant Present in the following documents:

• Main text

View BVdb publication page

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Trimethylaminuria: causes and diagnosis of a socially distressing condition.

The Clinical Biochemist. Reviews

Mackay, Richard J RJ; McEntyre, Christopher J CJ; Henderson, Caroline C; Lever, Michael M; George, Peter M PM

Publication Date: 2011-02

Variant appearance in text: FMO3: 913G>T; Glu305X

PubMed Link: 21451776

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria.

Molecular Genetics And Metabolism

Motika, Meike S MS; Zhang, Jun J; Zheng, Xueying X; Riedler, Kiersten K; Cashman, John R JR

Publication Date: 2009-06

Variant appearance in text: FMO3: E305X

PubMed Link: 19321370

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic polymorphisms of flavin monooxygenase 3 in sulindac-induced regression of colorectal adenomas in familial adenomatous polyposis.

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

Hisamuddin, Irfan M IM; Wehbi, Mohammad A MA; Schmotzer, Brian B; Easley, Kirk A KA; Hylind, Linda M LM; Giardiello, Francis M FM; Yang, Vincent W VW

Publication Date: 2005-10

Variant appearance in text: FMO3: E305X

PubMed Link: 16214918

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mammalian flavin-containing monooxygenases: structure/function, genetic polymorphisms and role in drug metabolism.

Pharmacology & Therapeutics

Krueger, Sharon K SK; Williams, David E DE

Publication Date: 2005-06

Variant appearance in text: FMO3: E305X

PubMed Link: 15922018

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benzydamine N-oxidation as an index reaction reflecting FMO activity in human liver microsomes and impact of FMO3 polymorphisms on enzyme activity.

British Journal Of Clinical Pharmacology

Störmer, E E; Roots, I I; Brockmöller, J J

Publication Date: 2000-12

Variant appearance in text: FMO3: E305X

PubMed Link: 11136294

Variant Present in the following documents:

• Main text

View BVdb publication page

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