Publications:

---

A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs3213427

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs3213427

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Systematic Review: Genetic Associations for Prognostic Factors of Urinary Bladder Cancer.

Biomarkers In Cancer

Lipunova, Nadezda N; Wesselius, Anke A; Cheng, Kar K KK; van Schooten, Frederik J FJ; Cazier, Jean-Baptiste JB; Bryan, Richard T RT; Zeegers, Maurice P MP

Publication Date: 2019

Variant appearance in text: rs3213427

PubMed Link: 31908559

Variant Present in the following documents:

• Supplementary_Tables_1_12_Sep24_xyz268777d1d25d8.pdf

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs3213427

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1

View BVdb publication page

---

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer

Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F

Publication Date: 2017-05-12

Variant appearance in text: rs3213427

PubMed Link: 28499365

Variant Present in the following documents:

• 12885_2017_3314_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk.

Plos One

de Maturana, Evangelina López EL; Ye, Yuanqing Y; Calle, M Luz ML; Rothman, Nathaniel N; Urrea, Víctor V; Kogevinas, Manolis M; Petrus, Sandra S; Chanock, Stephen J SJ; Tardón, Adonina A; García-Closas, Montserrat M; González-Neira, Anna A; Vellalta, Gemma G; Carrato, Alfredo A; Navarro, Arcadi A; Lorente-Galdós, Belén B; Silverman, Debra T DT; Real, Francisco X FX; Wu, Xifeng X; Malats, Núria N

Publication Date: 2013

Variant appearance in text: rs3213427

PubMed Link: 24391818

Variant Present in the following documents:

• Main text
• pone.0083745.pdf

View BVdb publication page

---

Genetic susceptibility to distinct bladder cancer subphenotypes.

European Urology

Guey, Lin T LT; García-Closas, Montserrat M; Murta-Nascimento, Cristiane C; Lloreta, Josep J; Palencia, Laia L; Kogevinas, Manolis M; Rothman, Nathaniel N; Vellalta, Gemma G; Calle, M Luz ML; Marenne, Gaëlle G; Tardón, Adonina A; Carrato, Alfredo A; García-Closas, Reina R; Serra, Consol C; Silverman, Debra T DT; Chanock, Stephen S; Real, Francisco X FX; Malats, Núria N; ,

Publication Date: 2010-02

Variant appearance in text: rs3213427

PubMed Link: 19692168

Variant Present in the following documents:

• Main text

View BVdb publication page

---