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PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma.
Polubothu S, Bender N, Muthiah S, Zecchin D, Demetriou C, Martin SB, Malhotra S, Travnickova J, Zeng Z, Böhm M, Barbarot S, Cottrell C, Davies O, Baselga E, Burrows NP, Carmignac V, Diaz JS, Fink C, Haenssle HA, Happle R, Harland M, Majerowski J, Vabres P, Vincent M, Newton-Bishop JA, Bishop DT, Siegel D, Patton EE, Topf M, Rajan N, Drolet B, Kinsler VA. Polubothu S, et al. Among authors: malhotra s. J Invest Dermatol. 2023 Jun;143(6):1042-1051.e3. doi: 10.1016/j.jid.2022.09.661. Epub 2022 Dec 23. J Invest Dermatol. 2023. PMID: 36566878 Free PMC article.
Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals.
Sun KY, Bai X, Chen S, Bao S, Zhang C, Kapoor M, Backman J, Joseph T, Maxwell E, Mitra G, Gorovits A, Mansfield A, Boutkov B, Gokhale S, Habegger L, Marcketta A, Locke AE, Ganel L, Hawes A, Kessler MD, Sharma D, Staples J, Bovijn J, Gelfman S, Di Gioia A, Rajagopal VM, Lopez A, Varela JR, Alegre-Díaz J, Berumen J, Tapia-Conyer R, Kuri-Morales P, Torres J, Emberson J, Collins R; Regeneron Genetics Center; RGC-ME Cohort Partners; Cantor M, Thornton T, Kang HM, Overton JD, Shuldiner AR, Cremona ML, Nafde M, Baras A, Abecasis G, Marchini J, Reid JG, Salerno W, Balasubramanian S. Sun KY, et al. Nature. 2025 Jan 8. doi: 10.1038/s41586-024-08571-x. Online ahead of print. Nature. 2025. PMID: 39779867 No abstract available.
Context-dependent effects of CDKN2A and other 9p21 gene losses during the evolution of esophageal cancer.
Ganguli P, Basanta CC, Acha-Sagredo A, Misetic H, Armero M, Mendez A, Zahra A, Devonshire G, Kelly G, Freeman A, Green M, Nye E, Bichisecchi A, Bonfanti P; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Rodriguez-Justo M, Spencer J, Fitzgerald RC, Ciccarelli FD. Ganguli P, et al. Nat Cancer. 2025 Jan 3. doi: 10.1038/s43018-024-00876-0. Online ahead of print. Nat Cancer. 2025. PMID: 39753721
2,185 results