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26 results

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Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
Sargen MR, Kim J, Potjer TP, Velthuizen ME, Martir-Negron AE, Odia Y, Helgadottir H, Hatton JN, Haley JS, Thone G, Widemann BC, Gross AM, Yohe ME, Kaplan RN, Shern JF, Sundby RT, Astiazaran-Symonds E, Yang XR, Carey DJ, Tucker MA, Stewart DR, Goldstein AM. Sargen MR, et al. Among authors: haley js. JAMA Dermatol. 2023 Oct 1;159(10):1112-1118. doi: 10.1001/jamadermatol.2023.2621. JAMA Dermatol. 2023. PMID: 37585199 Free PMC article.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
de Andrade KC, Strande NT, Kim J, Haley JS, Hatton JN, Frone MN, Khincha PP, Thone GM, Mirshahi UL, Schneider C, Desai H, Dove JT, Smelser DT; Penn Medicine BioBank; Regeneron Genetics Center; Levine AJ, Maxwell KN, Stewart DR, Carey DJ, Savage SA. de Andrade KC, et al. Among authors: haley js. HGG Adv. 2024 Jan 11;5(1):100242. doi: 10.1016/j.xhgg.2023.100242. Epub 2023 Sep 29. HGG Adv. 2024. PMID: 37777824 Free PMC article.
Development of a Polygenic Risk Score to Predict Diverticulitis.
Schaeffer HD, Smelser DT, Rao HS, Haley JS, Long KC, Slipak SH, Carey DJ, Hoffman RL. Schaeffer HD, et al. Among authors: haley js. Dis Colon Rectum. 2024 Feb 1;67(2):254-263. doi: 10.1097/DCR.0000000000002943. Epub 2023 Oct 11. Dis Colon Rectum. 2024. PMID: 37844217
Intronic Germline DICER1 Variants in Patients With Sertoli-Leydig Cell Tumor.
Fraire CR, Mallinger PR, Hatton JN, Kim J, Dickens DS, Argenta PA, Milanovich S, Hartshorne T, Carey DJ, Haley JS, Urban G, Lee J, Hill DA, Stewart DR, Schultz KAP, Chen KS. Fraire CR, et al. Among authors: haley js. JCO Precis Oncol. 2023 Sep;7:e2300189. doi: 10.1200/PO.23.00189. JCO Precis Oncol. 2023. PMID: 37883719 Free PMC article.
Genomic ascertainment of CHEK2-related cancer predisposition.
Kim SY, Kim J, Ramos M, Haley J, Smelser D, Rao HS, Mirshahi UL; Geisinger-Regeneron DiscovEHR Collaboration; Graubard BI, Katki HA, Carey D, Stewart DR. Kim SY, et al. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311613. doi: 10.1101/2024.08.07.24311613. medRxiv. 2024. PMID: 39371170 Free PMC article. Preprint.
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Kim J, Ney G, Frone MN, Haley JS, Mirshahi UL, Astiazaran-Symonds E, Shandrina M, Urban G, Rao HS, Stahl R, Golden A, Yohe ME, Gross AM, Ding Y, Carey DJ, Gelb BD, Stewart DR. Kim J, et al. Among authors: haley js. medRxiv [Preprint]. 2024 Oct 11:2024.10.09.24314324. doi: 10.1101/2024.10.09.24314324. medRxiv. 2024. PMID: 39802765 Free PMC article. Preprint.
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