Publications:

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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: UMOD: V264V; rs13335818

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

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

Olinger, Eric E; Schaeffer, Céline C; Kidd, Kendrah K; Elhassan, Elhussein A E EAE; Cheng, Yurong Y; Dufour, Inès I; Schiano, Guglielmo G; Mabillard, Holly H; Pasqualetto, Elena E; Hofmann, Patrick P; Fuster, Daniel G DG; Kistler, Andreas D AD; Wilson, Ian J IJ; Kmoch, Stanislav S; Raymond, Laure L; Robert, Thomas T; , ; Eckardt, Kai-Uwe KU; Bleyer, Anthony J AJ; Köttgen, Anna A; Conlon, Peter J PJ; Wiesener, Michael M; Sayer, John A JA; Rampoldi, Luca L; Devuyst, Olivier O

Publication Date: 2022-08-16

Variant appearance in text: rs13335818

PubMed Link: 35947615

Variant Present in the following documents:

• pnas.2114734119.sapp.pdf

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Serum uromodulin and decline of kidney function in older participants of the population-based KORA F4/FF4 study.

Clinical Kidney Journal

Then, Cornelia C; Then, Holger L HL; Lechner, Andreas A; Thorand, Barbara B; Meisinger, Christa C; Heier, Margit M; Peters, Annette A; Koenig, Wolfgang W; Rathmann, Wolfgang W; Scherberich, Jürgen J; Seissler, Jochen J

Publication Date: 2021-01

Variant appearance in text: rs13335818

PubMed Link: 33564420

Variant Present in the following documents:

• Main text
• sfaa032.pdf

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: UMOD: V264V; rs13335818

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

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: UMOD: Val264=; rs13335818

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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Genetic association in female stress urinary incontinence based on proteomic findings: a case-control study.

International Urogynecology Journal

Reischer, Theresa T; Balendran-Braun, Sukirthini S; Liebmann-Reindl, Sandra S; Streubel, Berthold B; Umek, Wolfgang W; Koelbl, Heinz H; Koch, Marianne M

Publication Date: 2020-01

Variant appearance in text: rs13335818

PubMed Link: 30715578

Variant Present in the following documents:

• Main text
• 192_2019_Article_3878.pdf

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs13335818

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: UMOD: V264V; rs13335818

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants identified by UMOD gene region sequencing.

Plos One

Köttgen, Anna A; Yang, Qiong Q; Shimmin, Lawrence C LC; Tin, Adrienne A; Schaeffer, Céline C; Coresh, Josef J; Liu, Xuan X; Rampoldi, Luca L; Hwang, Shih-Jen SJ; Boerwinkle, Eric E; Hixson, James E JE; Kao, W H Linda WH; Fox, Caroline S CS

Publication Date: 2012

Variant appearance in text: rs13335818

PubMed Link: 22693617

Variant Present in the following documents:

• Main text
• pone.0038311.pdf

View BVdb publication page

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Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

Plos Genetics

Gudbjartsson, Daniel F DF; Holm, Hilma H; Indridason, Olafur S OS; Thorleifsson, Gudmar G; Edvardsson, Vidar V; Sulem, Patrick P; de Vegt, Femmie F; d'Ancona, Frank C H FC; den Heijer, Martin M; Wetzels, Jack F M JF; Franzson, Leifur L; Rafnar, Thorunn T; Kristjansson, Kristleifur K; Bjornsdottir, Unnur S US; Eyjolfsson, Gudmundur I GI; Kiemeney, Lambertus A LA; Kong, Augustine A; Palsson, Runolfur R; Thorsteinsdottir, Unnur U; Stefansson, Kari K

Publication Date: 2010-07-29

Variant appearance in text: UMOD: V264V; rs13335818

PubMed Link: 20686651

Variant Present in the following documents:

• Main text
• pgen.1001039.pdf

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Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

Pediatric Nephrology (Berlin, Germany)

Wolf, Matthias T F MT; Hoskins, Bethan E BE; Beck, Bodo B BB; Hoppe, Bernd B; Tasic, Velibor V; Otto, Edgar A EA; Hildebrandt, Friedhelm F

Publication Date: 2009-01

Variant appearance in text: UMOD: V264V; rs13335818

PubMed Link: 18846391

Variant Present in the following documents:

• Main text

View BVdb publication page

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