Publications:

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: rs12933120

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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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: rs12933120

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs12933120

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Genome-wide association study of medication-use and associated disease in the UK Biobank.

Nature Communications

Wu, Yeda Y; Byrne, Enda M EM; Zheng, Zhili Z; Kemper, Kathryn E KE; Yengo, Loic L; Mallett, Andrew J AJ; Yang, Jian J; Visscher, Peter M PM; Wray, Naomi R NR

Publication Date: 2019-04-23

Variant appearance in text: rs12933120

PubMed Link: 31015401

Variant Present in the following documents:

• 41467_2019_9572_MOESM6_ESM.xlsx, sheet 1

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Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.

Bmc Cancer

Fernández-Rodríguez, Juana J; Quiles, Francisco F; Blanco, Ignacio I; Teulé, Alex A; Feliubadaló, Lídia L; Valle, Jesús Del JD; Salinas, Mónica M; Izquierdo, Angel A; Darder, Esther E; Schindler, Detlev D; Capellá, Gabriel G; Brunet, Joan J; Lázaro, Conxi C; Pujana, Miguel Angel MA

Publication Date: 2012-03-08

Variant appearance in text: rs12933120

PubMed Link: 22401137

Variant Present in the following documents:

• Main text
• 1471-2407-12-84.pdf

View BVdb publication page