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PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W. Schmidt LS, et al. Among authors: nielsen d. Urology. 2023 Sep;179:58-70. doi: 10.1016/j.urology.2023.04.035. Epub 2023 Jun 16. Urology. 2023. PMID: 37331486 Free article.
TFEB and TFE3 drive kidney cystogenesis and tumorigenesis.
Di Malta C, Zampelli A, Granieri L, Vilardo C, De Cegli R, Cinque L, Nusco E, Pece S, Tosoni D, Sanguedolce F, Sorrentino NC, Merino MJ, Nielsen D, Srinivasan R, Ball MW, Ricketts CJ, Vocke CD, Lang M, Karim B, Lanfrancone L, Schmidt LS, Linehan WM, Ballabio A. Di Malta C, et al. Among authors: nielsen d. EMBO Mol Med. 2023 May 8;15(5):e16877. doi: 10.15252/emmm.202216877. Epub 2023 Mar 29. EMBO Mol Med. 2023. PMID: 36987696 Free PMC article.
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of Hereditary Leiomyomatosis and Renal Cell Cancer.
Crooks DR, Cawthon GM, Fitzsimmons CM, Perez M, Ricketts CJ, Vocke CD, Yang Y, Middelton L, Nielsen D, Schmidt LS, Tandon M, Merino MJ, Ball MW, Meier JL, Batista PJ, Linehan WM. Crooks DR, et al. Among authors: nielsen d. Hum Mol Genet. 2023 Nov 3;32(22):3135-3145. doi: 10.1093/hmg/ddad131. Hum Mol Genet. 2023. PMID: 37561409
Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.
Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, Umstead KL, Turbitt E, Alevizos I, Baron J, Bönnemann C, Brooks B, Donkervoort S, Jee YH, Linehan WM, McMahon FJ, Moss J, Mullikin JC, Nielsen D, Pelayo E, Remaley AT, Siegel R, Su H, Zarate C; NISC Comparative Sequencing Program; Manolio TA, Biesecker BB, Biesecker LG. Sapp JC, et al. Among authors: nielsen d. Am J Hum Genet. 2018 Sep 6;103(3):358-366. doi: 10.1016/j.ajhg.2018.07.018. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122538 Free PMC article.
PECARN prediction rules for CT imaging of children presenting to the emergency department with blunt abdominal or minor head trauma: a multicentre prospective validation study.
Holmes JF, Yen K, Ugalde IT, Ishimine P, Chaudhari PP, Atigapramoj N, Badawy M, McCarten-Gibbs KA, Nielsen D, Sage AC, Tatro G, Upperman JS, Adelson PD, Tancredi DJ, Kuppermann N. Holmes JF, et al. Among authors: nielsen d. Lancet Child Adolesc Health. 2024 May;8(5):339-347. doi: 10.1016/S2352-4642(24)00029-4. Lancet Child Adolesc Health. 2024. PMID: 38609287
1,475 results