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A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.
Borrego S, Wright FA, Fernández RM, Williams N, López-Alonso M, Davuluri R, Antiñolo G, Eng C. Borrego S, et al. Among authors: eng c. Am J Hum Genet. 2003 Jan;72(1):88-100. doi: 10.1086/345466. Epub 2002 Dec 9. Am J Hum Genet. 2003. PMID: 12474140 Free PMC article.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Jerez PÁ, Wild Crea PA, Ramos DM, Gustavsson EK, Radefeldt M, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu C, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Jerez PÁ, et al. Among authors: eng c. medRxiv [Preprint]. 2024 Feb 24:2024.02.20.24302827. doi: 10.1101/2024.02.20.24302827. medRxiv. 2024. Update in: Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2 PMID: 39802803 Free PMC article. Updated. Preprint.
Targeting chromosomally unstable tumors with a selective KIF18A inhibitor.
Phillips AF, Zhang R, Jaffe M, Schulz R, Carty MC, Verma A, Feinberg TY, Arensman MD, Chiu A, Letso R, Bosco N, Queen KA, Racela AR, Stumpff J, Andreu-Agullo C, Bettigole SE, Depetris RS, Drutman S, Su SM, Cogan DA, Eng CH. Phillips AF, et al. Among authors: eng ch. Nat Commun. 2025 Jan 2;16(1):307. doi: 10.1038/s41467-024-55300-z. Nat Commun. 2025. PMID: 39747049 Free PMC article.
International consensus to define outcomes for trials of chemoradiotherapy for anal cancer (CORMAC-2): defining the outcomes from the CORMAC core outcome set.
Samuel R, Knight SR, Adams R, Das P, Dorth J, Finch D, Guren MG, Hawkins MA, Moug S, Rajdev L, Sebag-Montefiore D, Renehan AG, Fish R; plus the CORMAC-2 collaborators. Samuel R, et al. EClinicalMedicine. 2024 Dec 5;78:102939. doi: 10.1016/j.eclinm.2024.102939. eCollection 2024 Dec. EClinicalMedicine. 2024. PMID: 39720423 Free PMC article. Review.
1,913 results