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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: munro kj. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
Expanding the genotypic spectrum of Perrault syndrome.
Demain LA, Urquhart JE, O'Sullivan J, Williams SG, Bhaskar SS, Jenkinson EM, Lourenco CM, Heiberg A, Pearce SH, Shalev SA, Yue WW, Mackinnon S, Munro KJ, Newbury-Ecob R, Becker K, Kim MJ, O' Keefe RT, Newman WG. Demain LA, et al. Among authors: munro kj. Clin Genet. 2017 Feb;91(2):302-312. doi: 10.1111/cge.12776. Epub 2016 Apr 1. Clin Genet. 2017. PMID: 26970254
Patient and public involvement in hearing research: opportunities, impact and reflections with case studies from the Manchester Centre for Audiology and Deafness.
Dawes P, Arru P, Corry R, McDermott JH, Garlick J, Guest H, Howlett E, Jackson I, James R, Keane A, Murray C, Newman W, Visram A, Munro KJ. Dawes P, et al. Among authors: munro kj. Int J Audiol. 2024 Feb;63(2):146-154. doi: 10.1080/14992027.2022.2155881. Epub 2022 Dec 26. Int J Audiol. 2024. PMID: 36573267
A role for HLA-DRB1*1101 and DRB1*0801 in cognitive ability and its decline with age.
Payton A, Dawes P, Platt H, Morton CC, Moore DR, Massey J, Horan M, Ollier W, Munro KJ, Pendleton N. Payton A, et al. Among authors: munro kj. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):209-14. doi: 10.1002/ajmg.b.32393. Epub 2015 Oct 16. Am J Med Genet B Neuropsychiatr Genet. 2016. PMID: 26473500
Placebo effects in hearing-aid trials are reliable.
Dawes P, Hopkins R, Munro KJ. Dawes P, et al. Among authors: munro kj. Int J Audiol. 2013 Jul;52(7):472-7. doi: 10.3109/14992027.2013.783718. Epub 2013 Apr 18. Int J Audiol. 2013. PMID: 23594421 Clinical Trial.
Acclimatization to hearing aids.
Dawes P, Munro KJ, Kalluri S, Edwards B. Dawes P, et al. Among authors: munro kj. Ear Hear. 2014 Mar-Apr;35(2):203-12. doi: 10.1097/AUD.0b013e3182a8eda4. Ear Hear. 2014. PMID: 24351612
200 results