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Page 1
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Lancet Neurol. 2022 Mar;21(3):234-245. doi: 10.1016/S1474-4422(21)00462-2.
Lancet Neurol. 2022.
PMID: 35182509
Free PMC article.
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.
Mellis R, Oprych K, Scotchman E, Hill M, Chitty LS.
Mellis R, et al. Among authors: oprych k.
Prenat Diagn. 2022 May;42(6):662-685. doi: 10.1002/pd.6115. Epub 2022 May 7.
Prenat Diagn. 2022.
PMID: 35170059
Free PMC article.
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Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Muthiah MN, Kalitzeos A, Oprych K, Singh N, Georgiou M, Wright GA, Robson AG, Arno G, Khan K, Michaelides M.
Muthiah MN, et al. Among authors: oprych k.
Br J Ophthalmol. 2022 Sep;106(9):1274-1281. doi: 10.1136/bjophthalmol-2020-318034. Epub 2021 May 24.
Br J Ophthalmol. 2022.
PMID: 34031043
Free PMC article.
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Repairing Peripheral Nerves: Is there a Role for Carbon Nanotubes?
Oprych KM, Whitby RL, Mikhalovsky SV, Tomlins P, Adu J.
Oprych KM, et al.
Adv Healthc Mater. 2016 Jun;5(11):1253-71. doi: 10.1002/adhm.201500864. Epub 2016 Mar 29.
Adv Healthc Mater. 2016.
PMID: 27027923
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Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G.
Daich Varela M, et al. Among authors: oprych k.
Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227.
Hum Mol Genet. 2023.
PMID: 36084042
Free PMC article.
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Common olfactory ensheathing glial markers in the developing human olfactory system.
Oprych K, Cotfas D, Choi D.
Oprych K, et al.
Brain Struct Funct. 2017 May;222(4):1877-1895. doi: 10.1007/s00429-016-1313-y. Epub 2016 Oct 7.
Brain Struct Funct. 2017.
PMID: 27718014
Free PMC article.
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Technical Improvements to a Rat Brachial Plexus Avulsion Model via a Posterior Surgical Approach.
Oprych KM, Kalsi PS, Kachramanoglou C, Choi D.
Oprych KM, et al.
Plast Reconstr Surg Glob Open. 2016 Jan 7;3(12):e576. doi: 10.1097/GOX.0000000000000535. eCollection 2015 Dec.
Plast Reconstr Surg Glob Open. 2016.
PMID: 26894001
Free PMC article.
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