Publications:

---

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: N/A

PubMed Link: 36241656

Variant Present in the following documents:

View BVdb publication page

---

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

View BVdb publication page

---

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

View BVdb publication page

---

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: N/A

PubMed Link: 33420045

Variant Present in the following documents:

View BVdb publication page

---

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: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

---

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

View BVdb publication page

---

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

---

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: N/A

PubMed Link: 25390934

Variant Present in the following documents:

View BVdb publication page

---

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

---