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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2010 1
2011 3
2012 5
2014 1
2015 2
2016 4
2017 6
2018 1
2019 4
2020 3
2021 4
2022 5
2023 7
2024 1

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39 results

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Page 1
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes.
Khurana I, Kaipananickal H, Maxwell S, Birkelund S, Syreeni A, Forsblom C, Okabe J, Ziemann M, Kaspi A, Rafehi H, Jørgensen A, Al-Hasani K, Thomas MC, Jiang G, Luk AO, Lee HM, Huang Y, Thewjitcharoen Y, Nakasatien S, Himathongkam T, Fogarty C, Njeim R, Eid A, Hansen TW, Tofte N, Ottesen EC, Ma RC, Chan JC, Cooper ME, Rossing P, Groop PH, El-Osta A. Khurana I, et al. Among authors: rafehi h. J Clin Invest. 2023 Feb 15;133(4):e160959. doi: 10.1172/JCI160959. J Clin Invest. 2023. PMID: 36633903 Free PMC article.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Am J Hum Genet. 2023 Jun 1;110(6):1018. doi: 10.1016/j.ajhg.2023.05.005. Am J Hum Genet. 2023. PMID: 37267898 Free PMC article. No abstract available.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Barbier M, Bahlo M, Pennisi A, Jacoupy M, Tankard RM, Ewenczyk C, Davies KC, Lino-Coulon P, Colace C, Rafehi H, Auger N, Ansell BRE, van der Stelt I, Howell KB, Coutelier M, Amor DJ, Mundwiller E, Guillot-Noël L, Storey E, Gardner RJM, Wallis MJ, Brusco A, Corti O, Rötig A, Leventer RJ, Brice A, Delatycki MB, Stevanin G, Lockhart PJ, Durr A. Barbier M, et al. Among authors: rafehi h. Ann Neurol. 2022 Jul;92(1):122-137. doi: 10.1002/ana.26366. Epub 2022 May 7. Ann Neurol. 2022. PMID: 35411967 Free article.
Metabolism and chromatin dynamics in health and disease.
Rodriguez H, Rafehi H, Bhave M, El-Osta A. Rodriguez H, et al. Among authors: rafehi h. Mol Aspects Med. 2017 Apr;54:1-15. doi: 10.1016/j.mam.2016.09.004. Epub 2016 Sep 30. Mol Aspects Med. 2017. PMID: 27697603 Review.
Infanticide vs. inherited cardiac arrhythmias.
Brohus M, Arsov T, Wallace DA, Jensen HH, Nyegaard M, Crotti L, Adamski M, Zhang Y, Field MA, Athanasopoulos V, Baró I, Ribeiro de Oliveira-Mendes BB, Redon R, Charpentier F, Raju H, DiSilvestre D, Wei J, Wang R, Rafehi H, Kaspi A, Bahlo M, Dick IE, Chen SRW, Cook MC, Vinuesa CG, Overgaard MT, Schwartz PJ. Brohus M, et al. Among authors: rafehi h. Europace. 2021 Mar 8;23(3):441-450. doi: 10.1093/europace/euaa272. Europace. 2021. PMID: 33200177 Free PMC article.
Genetic and epigenetic events in diabetic wound healing.
Rafehi H, El-Osta A, Karagiannis TC. Rafehi H, et al. Int Wound J. 2011 Feb;8(1):12-21. doi: 10.1111/j.1742-481X.2010.00745.x. Epub 2010 Dec 16. Int Wound J. 2011. PMID: 21159125 Free PMC article. Review.
39 results