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Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H. Sheppard SE, et al. Among authors: niazi r. JCI Insight. 2023 May 8;8(9):e155888. doi: 10.1172/jci.insight.155888. JCI Insight. 2023. PMID: 37154160 Free PMC article.
Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.
Wu C, Devkota B, Evans P, Zhao X, Baker SW, Niazi R, Cao K, Gonzalez MA, Jayaraman P, Conlin LK, Krock BL, Deardorff MA, Spinner NB, Krantz ID, Santani AB, Tayoun ANA, Sarmady M. Wu C, et al. Among authors: niazi r. Eur J Hum Genet. 2019 Apr;27(4):612-620. doi: 10.1038/s41431-018-0328-7. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626929 Free PMC article.
Global incidence, prevalence, years lived with disability (YLDs), disability-adjusted life-years (DALYs), and healthy life expectancy (HALE) for 371 diseases and injuries in 204 countries and territories and 811 subnational locations, 1990-2021: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Diseases and Injuries Collaborators. GBD 2021 Diseases and Injuries Collaborators. Lancet. 2024 Apr 15:S0140-6736(24)00757-8. doi: 10.1016/S0140-6736(24)00757-8. Online ahead of print. Lancet. 2024. PMID: 38642570 Free article.
Global estimates on the number of people blind or visually impaired by cataract: a meta-analysis from 2000 to 2020.
Pesudovs K, Lansingh VC, Kempen JH, Tapply I, Fernandes AG, Cicinelli MV, Arrigo A, Leveziel N, Briant PS, Vos T, Resnikoff S, Taylor HR, Sedighi T, Flaxman S, Steinmetz J, Bourne R; Vision Loss Expert Group of the Global Burden of Disease Study; GBD 2019 Blindness and Vision Impairment Collaborators. Pesudovs K, et al. Eye (Lond). 2024 Mar 9. doi: 10.1038/s41433-024-02961-1. Online ahead of print. Eye (Lond). 2024. PMID: 38461217
Global Burden of Cardiovascular Diseases and Risks, 1990-2022.
Mensah GA, Fuster V, Murray CJL, Roth GA; Global Burden of Cardiovascular Diseases and Risks Collaborators. Mensah GA, et al. J Am Coll Cardiol. 2023 Dec 19;82(25):2350-2473. doi: 10.1016/j.jacc.2023.11.007. J Am Coll Cardiol. 2023. PMID: 38092509 No abstract available.
63 results