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Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
Int J Neonatal Screen. 2019 Dec;5(4):40. doi: 10.3390/ijns5040040. Epub 2019 Nov 5.
Int J Neonatal Screen. 2019.
PMID: 31844782
Free PMC article.
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK.
Loong L, et al.
Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18.
Genet Med. 2022.
PMID: 34906453
Free PMC article.
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A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.
van Campen J, Silcock L, Yau S, Daniel Y, Ahn JW, Ogilvie C, Mann K, Oteng-Ntim E.
van Campen J, et al.
Br J Haematol. 2020 Jul;190(1):119-124. doi: 10.1111/bjh.16529. Epub 2020 Feb 25.
Br J Haematol. 2020.
PMID: 32097993
Free article.
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Combined Chlorophyll Fluorescence and Transcriptomic Analysis Identifies the P3/P4 Transition as a Key Stage in Rice Leaf Photosynthetic Development.
van Campen JC, Yaapar MN, Narawatthana S, Lehmeier C, Wanchana S, Thakur V, Chater C, Kelly S, Rolfe SA, Quick WP, Fleming AJ.
van Campen JC, et al.
Plant Physiol. 2016 Mar;170(3):1655-74. doi: 10.1104/pp.15.01624. Epub 2016 Jan 26.
Plant Physiol. 2016.
PMID: 26813793
Free PMC article.
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