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6 items matching your search terms.
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome
Gibson, J.; Fieldhouse, R.; Chan, M. M. Y.; Sadeghi-Alavijeh, O.; Burnett, L.; Izzi, V.; Persikov, A. V.; Gale, D. P.; Storey, H.; Savige, J.; Genomics England Research, Consortium
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY 32 (9) :2273-2290, 2021 10.1681/ASN.2020071065
Evaluation of two population screening programmes for BRCA1/2 founder mutations in the Australian Jewish community: a protocol paper
Cousens, N. E.; Tiller, J.; Meiser, B.; Barlow-Stewart, K.; Rowley, S.; Ko, Y. A.; Mahale, S.; Campbell, I. G.; Kaur, R.; Bankier, A.; Burnett, L.; Jacobs, C.; James, P. A.; Trainer, A.; Neil, S.; Delatycki, M. B.; Andrews, L.
BMJ Open 11 (6) :e041186, 2021 10.1136/bmjopen-2020-041186
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
Mallawaarachchi, A. C.; Lundie, B.; Hort, Y.; Schonrock, N.; Senum, S. R.; Gayevskiy, V.; Minoche, A. E.; Hollway, G.; Ohnesorg, T.; Hinchcliffe, M.; Patel, C.; Tchan, M.; Mallett, A.; Dinger, M. E.; Rangan, G.; Cowley, M. J.; Harris, P. C.; Burnett, L.; Shine, J.; Furlong, T. J.
EUROPEAN JOURNAL OF HUMAN GENETICS 29 (5) :760-770, 2021 10.1038/s41431-020-00796-4
Somatic reversion of pathogenic DOCK8 variants alters lymphocyte differentiation and function to effectively cure DOCK8 deficiency
Pillay, B. A.; Fusaro, M.; Gray, P. E.; Statham, A. L.; Burnett, L.; Bezrodnik, L.; Kane, A.; Tong, W.; Abdo, C.; Winter, S.; Chevalier, S.; Levy, R.; Masson, C.; Schmitt, Y.; Bole, C.; Malphettes, M.; Macintyre, E.; De Villartay, J. P.; Ziegler, J. B.; Smart, J. M.; Peake, J.; Aghamohammadi, A.; Hammarstrom, L.; Abolhassani, H.; Picard, C.; Fischer, A.; Latour, S.; Neven, B.; Tangye, S. G.; Ma, C. S.
Journal of Genetic Counseling 131 (3) 2021 10.1172/JCI142434
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data
Minoche, A. E.; Lundie, B.; Peters, G. B.; Ohnesorg, T.; Pinese, M.; Thomas, D. M.; Zankl, A.; Roscioli, T.; Schonrock, N.; Kummerfeld, S.; Burnett, L.; Dinger, M. E.; Cowley, M. J.
Genome Medicine 13 (1) :32, 2021 10.1186/s13073-021-00841-x
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"
Kirk, E. P.; Barlow-Stewart, K.; Selvanathan, A.; Josephi-Taylor, S.; Worgan, L.; Rajagopalan, S.; Cowley, M. J.; Gayevskiy, V.; Bittles, A.; Burnett, L.; Elakis, G.; Lo, W.; Buckley, M.; Colley, A.; Roscioli, T.
GENETICS IN MEDICINE 21 (3) :608-612, 2019 10.1038/s41436-018-0082-9