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Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma.
Kalish JM, Doros L, Helman LJ, Hennekam RC, Kuiper RP, Maas SM, Maher ER, Nichols KE, Plon SE, Porter CC, Rednam S, Schultz KAP, States LJ, Tomlinson GE, Zelley K, Druley TE. Kalish JM, et al. Clin Cancer Res. 2017 Jul 1;23(13):e115-e122. doi: 10.1158/1078-0432.CCR-17-0710. Clin Cancer Res. 2017. PMID: 28674120 Free PMC article. Review.
Germline POLE mutation in a child with hypermutated medulloblastoma and features of constitutional mismatch repair deficiency.
Lindsay H, Scollon S, Reuther J, Voicu H, Rednam SP, Lin FY, Fisher KE, Chintagumpala M, Adesina AM, Parsons DW, Plon SE, Roy A. Lindsay H, et al. Among authors: rednam sp. Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004499. doi: 10.1101/mcs.a004499. Print 2019 Oct. Cold Spring Harb Mol Case Stud. 2019. PMID: 31624068 Free PMC article.
Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity.
Hirschi OR, Felker SA, Rednam SP, Vallance KL, Parsons DW, Roy A, Cooper GM, Plon SE. Hirschi OR, et al. Among authors: rednam sp. medRxiv [Preprint]. 2023 Nov 1:2023.10.30.23297632. doi: 10.1101/2023.10.30.23297632. medRxiv. 2023. Update in: Genet Med Open. 2024 May 15;2:101850. doi: 10.1016/j.gimo.2024.101850 PMID: 37961416 Free PMC article. Updated. Preprint.
32 results