Browsing by Author Dunwoodie, Sally

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Issue DateTitleAuthor(s)Citation
2015Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defectsZankl, Andreas; Brown, Matthew; Duncan, Emma; Dunwoodie, Sally; Gardiner, Brooke; Harris, Jessica; Leo, Paul; Marshall, Mhairi; McInerney-Leo, Aideen; O'Reilly, Victoria; Shi, Hongjun; Sparrow, D. B.; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects, Human Molecular Genetics, vol.24, 5, 2015,pp 1234-1242
2016Gestational stress induces the unfolded protein response, resulting in heart defectsChapman, Bogdan; Grieve, Stuart; Bewes, Therese; Chapman, G.; Dunwoodie, Sally; Graham, Robert M; Moreau, Julie; O'Reilly, Victoria; Shi, Hongjun; Sparrow, D. B.; Stocker, Roland; Yam, Michelle; Molecular Bioscience; Central Clinical School: MedicineGestational stress induces the unfolded protein response, resulting in heart defects, Development, vol.143, 14, 2016,pp 2561-2572
2016Insulin downregulates the transcriptional coregulator CITED2, an inhibitor of proangiogenic function in endothelial cellsDunwoodie, Sally; Albadawi, Hassan; Beck, Hans Christian; Dwivedi, Nishant; et al, Various; Lockhart, Samuel; O'Neill, Brian; Preil, Simone Rordam; Rathjen, Thomas; Sørensen, Ditte; Wang, Xuanchun; Medicine Faculty OfficeInsulin downregulates the transcriptional coregulator CITED2, an inhibitor of proangiogenic function in endothelial cells, Diabetes, vol.65, 12, 2016,pp 3680-3690
2006Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.Sillence, David; Chapman, Gavin; Dunwoodie, Sally; Ellard, S.; Fatkin, Diane; Kusumi, K.; Sparrow, D. B.; Turnpenny, P. D.; Whittock, N. V.; Wouters, Merridee A.; Childrens Hospital Westmead: Paediatrics & Child HealthMutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype., The American Journal of Human Genetics, vol.78, 1, 2006,pp N/A-N/A
2006Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.Sillence, David; Chapman, Gavin; Dunwoodie, Sally; Ellard, S.; Fatkin, Diane; Kusumi, K.; Sparrow, D. B.; Turnpenny, P. D.; Whittock, N. V.; Wouters, Merridee A.; Childrens Hospital Westmead: Paediatrics & Child HealthMutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype., The American Journal of Human Genetics, vol.78, 1, 2006,pp N/A-N/A
2015NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targetsWaardenberg, Ashley; Bhattacharya, Shoumo; Blanpain, Cedric; Bondue, Antoine; Bouveret, Romaric; Chapman, G.; Chen, Chiann-mun; de Jong, Danielle; Doan, Tram; Dunwoodie, Sally; Fonoudi, Hananeh; Harvey, R; Kaur, Gurpreet; Mohamed, Stephanie; Plachta, Nicolas; Ramialison, Mirana; Schonrock, Nicole; Wouters, Merridee A.; Childrens Medical Research Institute (CMRI)NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets, eLife, vol.4, N/A, 2015,pp 1-30
2016The promises and challenges of exome sequencing in familial, non-syndromic congenital heart diseaseBlue, Gillian; Sholler, Gary; Winlaw, David; Bosman, Alexis Gina; Chapman, Gavin; Dunwoodie, Sally; Harvey, Richard; Humphreys, David; Kirk, Edwin P.; Major, Joelene; Szot, Justin O.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthThe promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease, International Journal of Cardiology, vol.230, N/A, 2016,pp 155-163
2015Renal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signalingGrieve, Stuart; Dunwoodie, Sally; Ju, Adler; Kurniawan, Nyoman; Little, Melisssa H.; Moritz, Karen M; Neal, Cailda S; Singh, Reetu R; Sparrow, D. B.; Wilkinson, Lorine; Central Clinical School: MedicineRenal developmental defects resulting from in utero hypoxia are associated with suppression of ureteric β-catenin signaling, Kidney International, vol.87, 5, 2015,pp 975-83
2014Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart diseaseBlue, Gillian; Sholler, Gary; Winlaw, David; Dunwoodie, Sally; Giannoulatou, Eleni; Harvey, Richard P; Hilton, Desiree C.K; Ho, Joshua W.K.; Kirk, Edwin; White, Susan M.; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthTargeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease, Journal of the American College of Cardiology, vol.64, 23, 2014,pp 2498-2506