Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: SLC22A4: 917T>G; Ile306Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of Transporter Polymorphisms Influencing Metformin Pharmacokinetics in Healthy Volunteers.

Journal Of Personalized Medicine

Saiz-Rodríguez, Miriam M; Ochoa, Dolores D; Zubiaur, Pablo P; Navares-Gómez, Marcos M; Román, Manuel M; Camargo-Mamani, Paola P; Luquero-Bueno, Sergio S; Villapalos-García, Gonzalo G; Alcaraz, Raquel R; Mejía-Abril, Gina G; Santos-Mazo, Estefanía E; Abad-Santos, Francisco F

Publication Date: 2023-03-08

Variant appearance in text: rs272893

PubMed Link: 36983671

Variant Present in the following documents:

• Main text
• jpm-13-00489.pdf

View BVdb publication page

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Implications of genetic variations, differential gene expression, and allele-specific expression on metformin response in drug-naïve type 2 diabetes.

Journal Of Endocrinological Investigation

Vohra, M M; Sharma, A R AR; Mallya, S S; Prabhu, N B NB; Jayaram, P P; Nagri, S K SK; Umakanth, S S; Rai, P S PS

Publication Date: 2022-12-18

Variant appearance in text: rs272893

PubMed Link: 36528847

Variant Present in the following documents:

• Main text
• 40618_2022_Article_1989.pdf

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: rs272893

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs272893

PubMed Link: 34621706

Variant Present in the following documents:

• tcp-29-135-s001.xls, sheet 1

View BVdb publication page

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Organic Cation Transporters in Human Physiology, Pharmacology, and Toxicology.

International Journal Of Molecular Sciences

Samodelov, Sophia L SL; Kullak-Ublick, Gerd A GA; Gai, Zhibo Z; Visentin, Michele M

Publication Date: 2020-10-24

Variant appearance in text: rs272893

PubMed Link: 33114309

Variant Present in the following documents:

• Main text
• ijms-21-07890.pdf

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs272893

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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: rs272893

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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TMTC2 variant associated with sensorineural hearing loss and auditory neuropathy spectrum disorder in a family dyad.

Molecular Genetics & Genomic Medicine

Guillen-Ahlers, Hector H; Erbe, Christy B CB; Chevalier, Frédéric D FD; Montoya, Maria J MJ; Zimmerman, Kip D KD; Langefeld, Carl D CD; Olivier, Michael M; Runge, Christina L CL

Publication Date: 2018-04-19

Variant appearance in text: rs272893

PubMed Link: 29671961

Variant Present in the following documents:

• Main text
• MGG3-6-653.pdf

View BVdb publication page

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Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach.

International Journal Of Obesity (2005)

Kotnik, P P; Knapič, E E; Kokošar, J J; Kovač, J J; Jerala, R R; Battelino, T T; Horvat, S S

Publication Date: 2018-04

Variant appearance in text: rs272893

PubMed Link: 29188820

Variant Present in the following documents:

• Main text
• ijo2017293a.pdf

View BVdb publication page

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Genetic variants including markers from the exome chip and metabolite traits of type 2 diabetes.

Scientific Reports

Jäger, Susanne S; Wahl, Simone S; Kröger, Janine J; Sharma, Sapna S; Hoffmann, Per P; Floegel, Anna A; Pischon, Tobias T; Prehn, Cornelia C; Adamski, Jerzy J; Müller-Nurasyid, Martina M; Waldenberger, Melanie M; Strauch, Konstantin K; Peters, Annette A; Gieger, Christian C; Suhre, Karsten K; Grallert, Harald H; Boeing, Heiner H; Schulze, Matthias B MB; Meidtner, Karina K

Publication Date: 2017-07-20

Variant appearance in text: rs272893

PubMed Link: 28729637

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs272893

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Malaria Host Candidate Genes Validated by Association With Current, Recent, and Historical Measures of Transmission Intensity.

The Journal Of Infectious Diseases

Sepúlveda, Nuno N; Manjurano, Alphaxard A; Campino, Susana G SG; Lemnge, Martha M; Lusingu, John J; Olomi, Raimos R; Rockett, Kirk A KA; Hubbart, Christina C; Jeffreys, Anna A; Rowlands, Kate K; Clark, Taane G TG; Riley, Eleanor M EM; Drakeley, Chris J CJ; ,

Publication Date: 2017-07-01

Variant appearance in text: rs272893

PubMed Link: 28541483

Variant Present in the following documents:

• Main text
• jix250.pdf

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: rs272893

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

View BVdb publication page

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Variants in Pharmacokinetic Transporters and Glycemic Response to Metformin: A Metgen Meta-Analysis.

Clinical Pharmacology And Therapeutics

Dujic, T T; Zhou, K K; Yee, S W SW; van Leeuwen, N N; de Keyser, C E CE; Javorský, M M; Goswami, S S; Zaharenko, L L; Hougaard Christensen, M M MM; Out, M M; Tavendale, R R; Kubo, M M; Hedderson, M M MM; van der Heijden, A A AA; Klimčáková, L L; Pirags, V V; Kooy, A A; Brøsen, K K; Klovins, J J; Semiz, S S; Tkáč, I I; Stricker, B H BH; Palmer, Cna C; 't Hart, L M LM; Giacomini, K M KM; Pearson, E R ER

Publication Date: 2017-06

Variant appearance in text: rs272893

PubMed Link: 27859023

Variant Present in the following documents:

• Main text
• CPT-101-763.pdf

View BVdb publication page

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Systematic meta-analyses and field synopsis of genetic and epigenetic studies in paediatric inflammatory bowel disease.

Scientific Reports

Li, Xue X; Song, Peige P; Timofeeva, Maria M; Meng, Xiangrui X; Rudan, Igor I; Little, Julian J; Satsangi, Jack J; Campbell, Harry H; Theodoratou, Evropi E

Publication Date: 2016-09-27

Variant appearance in text: rs272893

PubMed Link: 27670835

Variant Present in the following documents:

• srep34076-s1.pdf

View BVdb publication page

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Non-targeted metabolomics combined with genetic analyses identifies bile acid synthesis and phospholipid metabolism as being associated with incident type 2 diabetes.

Diabetologia

Fall, Tove T; Salihovic, Samira S; Brandmaier, Stefan S; Nowak, Christoph C; Ganna, Andrea A; Gustafsson, Stefan S; Broeckling, Corey D CD; Prenni, Jessica E JE; Kastenmüller, Gabi G; Peters, Annette A; Magnusson, Patrik K PK; Wang-Sattler, Rui R; Giedraitis, Vilmantas V; Berne, Christian C; Gieger, Christian C; Pedersen, Nancy L NL; Ingelsson, Erik E; Lind, Lars L

Publication Date: 2016-10

Variant appearance in text: rs272893

PubMed Link: 27406814

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: rs272893

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs272893

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.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: rs272893

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: rs272893

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: SLC22A4: I306R

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs272893

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Evidence for the association of the SLC22A4 and SLC22A5 genes with type 1 diabetes: a case control study.

Bmc Medical Genetics

Santiago, Jose Luis JL; Martínez, Alfonso A; de la Calle, Hermenegildo H; Fernández-Arquero, Miguel M; Figueredo, M Angeles MA; de la Concha, Emilio G EG; Urcelay, Elena E

Publication Date: 2006-06-23

Variant appearance in text: rs272893

PubMed Link: 16796743

Variant Present in the following documents:

• Main text
• 1471-2350-7-54.pdf

View BVdb publication page

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