Publications:

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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: rs2277119

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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Pleiotropic Meta-Analysis of Age-Related Phenotypes Addressing Evolutionary Uncertainty in Their Molecular Mechanisms.

Frontiers In Genetics

Kulminski, Alexander M AM; Loika, Yury Y; Huang, Jian J; Arbeev, Konstantin G KG; Bagley, Olivia O; Ukraintseva, Svetlana S; Yashin, Anatoliy I AI; Culminskaya, Irina I

Publication Date: 2019

Variant appearance in text: rs2277119

PubMed Link: 31134135

Variant Present in the following documents:

• Main text
• fgene-10-00433.pdf

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: rs2277119

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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Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

Scientific Reports

Liu, Ruihong R; Chen, Chuming C; Xia, Xuefeng X; Liao, Qijun Q; Wang, Qiong Q; Newcombe, Paul J PJ; Xu, Shuhua S; Chen, Minghui M; Ding, Yue Y; Li, Xiaoying X; Liao, Zhihong Z; Li, Fucheng F; Du, Minlian M; Huang, Huaiqiu H; Dong, Ruimin R; Deng, Weiping W; Wang, Ye Y; Zeng, Binghui B; Pan, Qihao Q; Jiang, Danhua D; Zeng, Hao H; Sham, Pak P; Cao, Yingnan Y; Maxwell, Patrick H PH; Gao, Zhi-Liang ZL; Peng, Liang L; Wang, Yiming Y

Publication Date: 2017-08-23

Variant appearance in text: rs2277119

PubMed Link: 28835676

Variant Present in the following documents:

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: rs2277119

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Role of Pharmacogenetics in Hematopoietic Stem Cell Transplantation Outcome in Children.

International Journal Of Molecular Sciences

Franca, Raffaella R; Stocco, Gabriele G; Favretto, Diego D; Giurici, Nagua N; Decorti, Giuliana G; Rabusin, Marco M

Publication Date: 2015-08-10

Variant appearance in text: rs2277119

PubMed Link: 26266406

Variant Present in the following documents:

• Main text
• ijms-16-18601.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: rs2277119

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: rs2277119

PubMed Link: 25126521

Variant Present in the following documents:

• mmc1.xls, sheet 1

View BVdb publication page

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Genetic variants associated with methotrexate efficacy and toxicity in early rheumatoid arthritis: results from the treatment of early aggressive rheumatoid arthritis trial.

The Pharmacogenomics Journal

Aslibekyan, S S; Brown, E E EE; Reynolds, R J RJ; Redden, D T DT; Morgan, S S; Baggott, J E JE; Sha, J J; Moreland, L W LW; O'Dell, J R JR; Curtis, J R JR; Mikuls, T R TR; Bridges, S L SL; Arnett, D K DK

Publication Date: 2014-02

Variant appearance in text: rs2277119

PubMed Link: 23545897

Variant Present in the following documents:

• Main text
• nihms442410.pdf

View BVdb publication page

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