Clokie S - Search Results

1

Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

Gerrish A, Stone E, Clokie S, Ainsworth JR, Jenkinson H, McCalla M, Hitchcott C, Colmenero I, Allen S, Parulekar M, Cole T. Gerrish A, et al. Among authors: clokie s. Br J Ophthalmol. 2019 Feb 11;103(5):721-4. doi: 10.1136/bjophthalmol-2018-313005. Online ahead of print. Br J Ophthalmol. 2019. PMID: 30745306 Free PMC article.

2

Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Gerrish A, Bowns B, Mashayamombe-Wolfgarten C, Young E, Court S, Bott J, McCalla M, Ramsden S, Parks M, Goudie D, Carless S, Clokie S, Cole T, Allen S. Gerrish A, et al. Among authors: clokie s. J Clin Med. 2020 Oct 30;9(11):3517. doi: 10.3390/jcm9113517. J Clin Med. 2020. PMID: 33143217 Free PMC article.

3

Non-invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage.

Parks M, Court S, Cleary S, Clokie S, Hewitt J, Williams D, Cole T, MacDonald F, Griffiths M, Allen S. Parks M, et al. Among authors: clokie s. Prenat Diagn. 2016 Apr;36(4):312-20. doi: 10.1002/pd.4781. Epub 2016 Feb 23. Prenat Diagn. 2016. PMID: 26824862 Free PMC article.

4

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage.

Parks M, Court S, Bowns B, Cleary S, Clokie S, Hewitt J, Williams D, Cole T, MacDonald F, Griffiths M, Allen S. Parks M, et al. Among authors: clokie s. Eur J Hum Genet. 2017 Apr;25(4):416-422. doi: 10.1038/ejhg.2016.195. Epub 2017 Jan 25. Eur J Hum Genet. 2017. PMID: 28120840 Free PMC article.

5

Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders.

Young E, Bowns B, Gerrish A, Parks M, Court S, Clokie S, Mashayamombe-Wolfgarten C, Hewitt J, Williams D, Cole T, Allen S. Young E, et al. Among authors: clokie s. J Mol Diagn. 2020 Sep;22(9):1151-1161. doi: 10.1016/j.jmoldx.2020.06.001. Epub 2020 Jun 15. J Mol Diagn. 2020. PMID: 32553884 Free PMC article.

6

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD).

Hughes LA, McKay-Bounford K, Webb EA, Dasani P, Clokie S, Chandran H, McCarthy L, Mohamed Z, Kirk JMW, Krone NP, Allen S, Cole TRP. Hughes LA, et al. Among authors: clokie s. Endocr Connect. 2019 Feb;8(2):100-110. doi: 10.1530/EC-18-0376. Endocr Connect. 2019. PMID: 30668521 Free PMC article.

7

Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.

Watson CM, Camm N, Crinnion LA, Clokie S, Robinson RL, Adlard J, Charlton R, Markham AF, Carr IM, Bonthron DT. Watson CM, et al. Among authors: clokie s. Mol Diagn Ther. 2017 Dec;21(6):685-692. doi: 10.1007/s40291-017-0304-x. Mol Diagn Ther. 2017. PMID: 28986857 Free article.

8

Analysis of Fibroblast Growth Factor 14 (FGF14) structural variants reveals the genetic basis of the early onset nystagmus locus NYS4 and variable ataxia.

Ceroni F, Osborne D, Clokie S, Bax DA, Cassidy EJ, Dunn MJ, Harris CM, Self JE, Ragge NK. Ceroni F, et al. Among authors: clokie s. Eur J Hum Genet. 2023 Mar;31(3):353-359. doi: 10.1038/s41431-022-01197-5. Epub 2022 Oct 7. Eur J Hum Genet. 2023. PMID: 36207621 Free PMC article.

9

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.

Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Németh AH. Watson LM, et al. Among authors: clokie s. Am J Hum Genet. 2017 Sep 7;101(3):451-458. doi: 10.1016/j.ajhg.2017.08.005. Am J Hum Genet. 2017. PMID: 28886343 Free PMC article.

10

PALB2 variant status in hematological malignancies - a potential therapeutic target?

Oldreive CE, Byrd PJ, Stewart GS, Taylor AJ, Farhat S, Skowronska A, Smith E, Raghavan M, Janic D, Dokmanovic L, Clokie S, Davies N, Kwok M, Pratt G, Paneesha S, Moss P, Stankovic T, Taylor M. Oldreive CE, et al. Among authors: clokie s. Leuk Lymphoma. 2019 Jul;60(7):1823-1826. doi: 10.1080/10428194.2018.1551539. Epub 2019 Jan 7. Leuk Lymphoma. 2019. PMID: 30614742 No abstract available.

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