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Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics.
Pitceathly RD, Smith C, Fratter C, Alston CL, He L, Craig K, Blakely EL, Evans JC, Taylor J, Shabbir Z, Deschauer M, Pohl U, Roberts ME, Jackson MC, Halfpenny CA, Turnpenny PD, Lunt PW, Hanna MG, Schaefer AM, McFarland R, Horvath R, Chinnery PF, Turnbull DM, Poulton J, Taylor RW, Gorman GS. Pitceathly RD, et al. Among authors: taylor rw, taylor j. Brain. 2012 Nov;135(Pt 11):3392-403. doi: 10.1093/brain/aws231. Epub 2012 Oct 29. Brain. 2012. PMID: 23107649 Free PMC article.
Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease.
Bugiardini E, Poole OV, Manole A, Pittman AM, Horga A, Hargreaves I, Woodward CE, Sweeney MG, Holton JL, Taanman JW, Plant GT, Poulton J, Zeviani M, Ghezzi D, Taylor J, Smith C, Fratter C, Kanikannan MA, Paramasivam A, Thangaraj K, Spinazzola A, Holt IJ, Houlden H, Hanna MG, Pitceathly RDS. Bugiardini E, et al. Among authors: taylor j. Neurol Genet. 2017 May 2;3(3):e149. doi: 10.1212/NXG.0000000000000149. eCollection 2017 Jun. Neurol Genet. 2017. PMID: 28508084 Free PMC article.
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: taylor j. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Predictive modelling of metabolic syndrome in Ghanaian diabetic patients: an ensemble machine learning approach.
Acheampong E, Adua E, Obirikorang C, Anto EO, Peprah-Yamoah E, Obirikorang Y, Asamoah EA, Opoku-Yamoah V, Nyantakyi M, Taylor J, Buckman TA, Yakubu M, Afrifa-Yamoah E. Acheampong E, et al. Among authors: taylor j. J Diabetes Metab Disord. 2024 Aug 28;23(2):2233-2249. doi: 10.1007/s40200-024-01491-7. eCollection 2024 Dec. J Diabetes Metab Disord. 2024. PMID: 39610504 Free PMC article.
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Broeren EC, Gitau VN, Byrne AB, Ajuyah P, Balzotti MB, Berg JS, Bluske K, Bowen BM, Brown MP, Buchanan A, Burns BT, Burns NJ, Chandrasekhar A, Chawla A, Chong JX, Chopra M, Clause AR, DiStefano MT, DiTroia S, Elnagheeb MA, Girod AN, Goel H, Golden-Grant KL, Ha T, Hamosh A, Huang JM, Hughes MY, Jamuar SS, Kam S, Kesari A, Koh AL, Lassiter RNT, Leigh SE, Lemire G, Lim JY, Malhotra A, McCurry HR, Milewski B, Moosa S, Murray SA, Owens EH, Palmer EE, Palus BC, Patel MJ, Rajkumar R, Ratliff JC, Raymond FL, Assis BDRR, Sajan SA, Schlachetzki Z, Schmidt SA, Stark Z, Samuel SP, Taylor JP, Thaxton C, Thrush DL, Toro S, Tshering K, Vasilevsky NA, Wayburn B, Webb RF, O'Donnell-Luria A, Coffey AJ. Broeren EC, et al. Among authors: taylor jp. medRxiv [Preprint]. 2024 Nov 20:2024.11.19.24317561. doi: 10.1101/2024.11.19.24317561. medRxiv. 2024. PMID: 39606380 Free PMC article. Preprint.
Heterogeneous endocrine cell composition defines human islet functional phenotypes.
Evans-Molina C, Pettway YD, Saunders DC, Sharp SA, Bate TS, Sun H, Durai H, Mei S, Coldren A, Davis C, Reihsmann CV, Hopkirk AL, Taylor J, Bradley A, Aramandla R, Poffenberger G, Eskaros A, Jenkins R, Shi D, Kang H, Rajesh V, Thaman S, Feng F, Cartailler JP, Powers AC, Abraham K, Gloyn AL, Niland JC, Brissova M. Evans-Molina C, et al. Among authors: taylor j. bioRxiv [Preprint]. 2024 Nov 21:2024.11.20.623809. doi: 10.1101/2024.11.20.623809. bioRxiv. 2024. PMID: 39605606 Free PMC article. Preprint.
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