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Page 1
Autoimmune regulator (AIRE)-deficient CD8+CD28low regulatory T lymphocytes fail to control experimental colitis.
Pomié C, Vicente R, Vuddamalay Y, Lundgren BA, van der Hoek M, Enault G, Kagan J, Fazilleau N, Scott HS, Romagnoli P, van Meerwijk JP. Pomié C, et al. Among authors: scott hs. Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12437-42. doi: 10.1073/pnas.1107136108. Epub 2011 Jul 11. Proc Natl Acad Sci U S A. 2011. PMID: 21746930 Free PMC article.
Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas.
Scarpino S, Di Napoli A, Stoppacciaro A, Antonelli M, Pilozzi E, Chiarle R, Palestro G, Marino M, Facciolo F, Rendina EA, Webster KE, Kinkel SA, Scott HS, Ruco L. Scarpino S, et al. Among authors: scott hs. Clin Exp Immunol. 2007 Sep;149(3):504-12. doi: 10.1111/j.1365-2249.2007.03442.x. Epub 2007 Jun 22. Clin Exp Immunol. 2007. PMID: 17590173 Free PMC article.
Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Folland C, Perić S, Fahmy N, Udd B, Horakova M, Łusakowska A, Manoj R, Nalini A, Karcagi V, Polavarapu K, Lochmüller H, Horvath R, Bönnemann CG, Donkervoort S, Haliloğlu G, Herguner O, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. Among authors: scott hs. Genet Med. 2024 Dec 9:101336. doi: 10.1016/j.gim.2024.101336. Online ahead of print. Genet Med. 2024. PMID: 39670433
Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.
Ball M, Bouffler SE, Barnett CB, Freckmann ML, Hunter MF, Kamien B, Kassahn KS, Lunke S, Patel CV, Pinner J, Roscioli T, Sandaradura SA, Scott HS, Tan TY, Wallis M, Compton AG, Thorburn DR, Stark Z, Christodoulou J. Ball M, et al. Among authors: scott hs. Genet Med. 2025 Jan;27(1):101293. doi: 10.1016/j.gim.2024.101293. Epub 2024 Oct 15. Genet Med. 2025. PMID: 39417332
Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy.
Maese LD, Wlodarski MW, Kim SY, Bertuch AA, Bougeard G, Chang VY, Godley LA, Khincha PP, Kuiper RP, Lesmana H, McGee RB, McReynolds LJ, Meade J, Plon SE, Savage SA, Scollon SR, Scott HS, Walsh MF, Nichols KE, Porter CC. Maese LD, et al. Among authors: scott hs. Clin Cancer Res. 2024 Oct 1;30(19):4286-4295. doi: 10.1158/1078-0432.CCR-24-0685. Clin Cancer Res. 2024. PMID: 39078402 Review.
Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features.
Wechalekar MD, Zhao LP, Kutyna MM, Hong LE, Li J, Hung K, Scott HS, Brown A, Hahn CC, Kassahn K, Ladon D, Yeung DT, Thomas D, Patnaik M, Proudman S, Ades L, Shah MV, Kok CH, Hiwase DK. Wechalekar MD, et al. Among authors: scott hs. Blood Cancer J. 2024 Jul 19;14(1):116. doi: 10.1038/s41408-024-01093-9. Blood Cancer J. 2024. PMID: 39030163 Free PMC article. No abstract available.
Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.
Zerella JR, Homan CC, Arts P, Lin X, Spinelli SJ, Venugopal P, Babic M, Brautigan PJ, Truong L, Arriola-Martinez L, Moore S, Hollins R, Parker WT, Nguyen H, Kassahn KS, Branford S, Feurstein S, Larcher L, Sicre de Fontbrune F, Demirdas S, de Munnik S, Antoine-Poirel H, Brichard B, Mansour S, Gordon K, Wlodarski MW, Koppayi A, Dobbins S, Mutsaers PGNJ, Nichols KE, Oak N, DeMille D, Mao R, Crawford A, McCarrier J, Basel D, Flores-Daboub J, Drazer MW, Phillips K, Poplawski NK, Birdsey GM, Pirri D, Ostergaard P, Simons A, Godley LA, Ross DM, Hiwase DK, Soulier J, Brown AL, Carmichael CL, Scott HS, Hahn CN. Zerella JR, et al. Among authors: scott hs. Blood. 2024 Oct 24;144(17):1765-1780. doi: 10.1182/blood.2024024607. Blood. 2024. PMID: 38991192 Free PMC article.
Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults.
Das A, MacFarland SP, Meade J, Hansford JR, Schneider KW, Kuiper RP, Jongmans MCJ, Lesmana H, Schultz KAP, Nichols KE, Durno C, Zelley K, Porter CC, States LJ, Ben-Shachar S, Savage SA, Kalish JM, Walsh MF, Scott HS, Plon SE, Tabori U. Das A, et al. Among authors: scott hs. Clin Cancer Res. 2024 Aug 15;30(16):3378-3387. doi: 10.1158/1078-0432.CCR-23-3994. Clin Cancer Res. 2024. PMID: 38860976 Review.
291 results