Publications:

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: MYH9: E1115E; rs875725

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYH9: 3345A>G; Glu1115=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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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: MYH9: E1115E; rs875725

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.

Human Molecular Genetics

Nelson, George W GW; Freedman, Barry I BI; Bowden, Donald W DW; Langefeld, Carl D CD; An, Ping P; Hicks, Pamela J PJ; Bostrom, Meredith A MA; Johnson, Randall C RC; Kopp, Jeffrey B JB; Winkler, Cheryl A CA

Publication Date: 2010-05-01

Variant appearance in text: rs875725

PubMed Link: 20124285

Variant Present in the following documents:

• Main text

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MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis.

Nature Genetics

Kopp, Jeffrey B JB; Smith, Michael W MW; Nelson, George W GW; Johnson, Randall C RC; Freedman, Barry I BI; Bowden, Donald W DW; Oleksyk, Taras T; McKenzie, Louise M LM; Kajiyama, Hiroshi H; Ahuja, Tejinder S TS; Berns, Jeffrey S JS; Briggs, William W; Cho, Monique E ME; Dart, Richard A RA; Kimmel, Paul L PL; Korbet, Stephen M SM; Michel, Donna M DM; Mokrzycki, Michele H MH; Schelling, Jeffrey R JR; Simon, Eric E; Trachtman, Howard H; Vlahov, David D; Winkler, Cheryl A CA

Publication Date: 2008-10

Variant appearance in text: rs875725

PubMed Link: 18794856

Variant Present in the following documents:

• Main text

View BVdb publication page