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A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects.
George M, Solanki A, Chavan N, Rajendran A, Raj R, Mohan S, Nemani S, Kanvinde S, Munirathnam D, Rao S, Radhakrishnan N, Lashkari HP, Ghildhiyal RG, Manglani M, Shanmukhaiah C, Bhat S, Ramesh S, Cherian A, Junagade P, Vundinti BR. George M, et al. Hum Mutat. 2021 Dec;42(12):1648-1665. doi: 10.1002/humu.24286. Epub 2021 Oct 5. Hum Mutat. 2021. PMID: 34585473
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Donovan FX, Solanki A, Mori M, Chavan N, George M, C SK, Okuno Y, Muramastsu H, Yoshida K, Shimamoto A, Takaori-Kondo A, Yabe H, Ogawa S, Kojima S, Yabe M, Ramanagoudr-Bhojappa R, Smogorzewska A, Mohan S, Rajendran A, Auerbach AD, Takata M, Chandrasekharappa SC, Vundinti BR. Donovan FX, et al. Among authors: george m. Hum Mutat. 2020 Jan;41(1):122-128. doi: 10.1002/humu.23914. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31513304 Free PMC article.
A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case.
Gaikwad P, Bargir UA, Shinde S, Kini P, Chaurasia R, Yadav U, Dhawale A, George M, Jodhawat N, Setia P, Vedpathak D, Dalvi A, Parab A, Gupta M, Yadav RM, Goriwale M, Vundinti B, Bhat N, Sapra BK, Otiv M, Sharma R, Madkaikar M. Gaikwad P, et al. Among authors: george m. J Clin Immunol. 2023 Nov;43(8):1891-1902. doi: 10.1007/s10875-023-01553-0. Epub 2023 Aug 1. J Clin Immunol. 2023. PMID: 37526892
The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes in Rare Disease: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated Developmental Epileptic Encephalopathy.
Sevinc G, Knox K, George M, Evans L, Kaiser A, Paltell KC, Myers LS, Ludwig NN, Wojnaroski M, Conecker G, Hecker J, Downs J, Chapman CA, Berg AT. Sevinc G, et al. Among authors: george m. Value Health. 2024 Dec 27:S1098-3015(24)06795-0. doi: 10.1016/j.jval.2024.12.004. Online ahead of print. Value Health. 2024. PMID: 39733836
Distinct virologic trajectories in chronic hepatitis B identify heterogeneity in response to nucleos(t)ide analogue therapy.
Wang T, Campbell C, Stockdale AJ, Todd S, McIntyre K, Frankland A, Jaworski J, Glampson B, Papadimitriou D, Mercuri L, Mayer E, Jones CR, Salih H, Roadknight G, Little S, Noble T, Várnai KA, Davis C, Heinson AI, George M, Borca F, English L, Romão L, Ramlakhan D; NIHR HIC Viral Hepatitis and Liver Disease Consortium; Woods K, Davies J, Nastouli E, Khakoo SI, Gelson W, Cooke GS, Barnes E, Matthews PC. Wang T, et al. Among authors: george m. JHEP Rep. 2024 Oct 9;7(1):101229. doi: 10.1016/j.jhepr.2024.101229. eCollection 2025 Jan. JHEP Rep. 2024. PMID: 39717508 Free PMC article.
3,277 results