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Page 1
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. Among authors: smelser d. medRxiv [Preprint]. 2024 Aug 8:2024.08.07.24311613. doi: 10.1101/2024.08.07.24311613. medRxiv. 2024. PMID: 39371170 Free PMC article. Preprint.
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: smelser dt. 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: smelser dt. 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
The genomics of heart failure: design and rationale of the HERMES consortium.
Lumbers RT, Shah S, Lin H, Czuba T, Henry A, Swerdlow DI, Mälarstig A, Andersson C, Verweij N, Holmes MV, Ärnlöv J, Svensson P, Hemingway H, Sallah N, Almgren P, Aragam KG, Asselin G, Backman JD, Biggs ML, Bloom HL, Boersma E, Brandimarto J, Brown MR, Brunner-La Rocca HP, Carey DJ, Chaffin MD, Chasman DI, Chazara O, Chen X, Chen X, Chung JH, Chutkow W, Cleland JGF, Cook JP, de Denus S, Dehghan A, Delgado GE, Denaxas S, Doney AS, Dörr M, Dudley SC, Engström G, Esko T, Fatemifar G, Felix SB, Finan C, Ford I, Fougerousse F, Fouodjio R, Ghanbari M, Ghasemi S, Giedraitis V, Giulianini F, Gottdiener JS, Gross S, Guðbjartsson DF, Gui H, Gutmann R, Haggerty CM, van der Harst P, Hedman ÅK, Helgadottir A, Hillege H, Hyde CL, Jacob J, Jukema JW, Kamanu F, Kardys I, Kavousi M, Khaw KT, Kleber ME, Køber L, Koekemoer A, Kraus B, Kuchenbaecker K, Langenberg C, Lind L, Lindgren CM, London B, Lotta LA, Lovering RC, Luan J, Magnusson P, Mahajan A, Mann D, Margulies KB, Marston NA, März W, McMurray JJV, Melander O, Melloni G, Mordi IR, Morley MP, Morris AD, Morris AP, Morrison AC, Nagle MW, Nelson CP, Newton-Cheh C, Niessner A, Niiranen T, Nowak C, O'Donoghue ML, Owens AT, Palmer CNA, Paré G, Perola… See abstract for full author list ➔ Lumbers RT, et al. Among authors: smelser dt. ESC Heart Fail. 2021 Dec;8(6):5531-5541. doi: 10.1002/ehf2.13517. Epub 2021 Sep 3. ESC Heart Fail. 2021. PMID: 34480422 Free PMC article.
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center. Dershem R, et al. Among authors: smelser dt. Am J Hum Genet. 2020 Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386559 Free PMC article.
40 results