Browsing by Author Flaherty, Maree

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Showing results 1 to 11 of 11
Issue DateTitleAuthor(s)Citation
2015Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital AmaurosisJamieson, Robyn; Crofts, Stephanie; et al, Various; Flaherty, Maree; Guo, Yiran; Liang, Jinlong; Prokudin, I; Tian, Lifeng; Wang, Fengxiang; Xie, Yi; Yu, Cong; Childrens Medical Research Institute (CMRI)Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis, Ophthalmic Genetics, vol.36, 4, 2015,pp 333-338
2008Chromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and GlaucomaBillson, FranK; Grigg, John; Jamieson, Robyn; Peters, Gregory; Tam, Patrick; Flaherty, Maree; Mihelec, Marija; Rudduck, Christina; St Heaps, Luke; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsChromosomal Rearrangements and Novel Genes in Disorders of Eye Development, Cataract and Glaucoma, Twin Research and Human Genetics, vol.11,(4),2008,pp 412-421
2009Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomataJamieson, Robyn; Balachandran, C.; Engle, Elizabeth C.; Flaherty, Maree; Children's Hospital Westmead: Paediatrics & Child HealthCongenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata, Ophthalmic Genetics, vol.30, 2,pp 91-95
2014Exome sequencing in developmental eye disease leads to identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1Grigg, John; Jamieson, Robyn; Storen, Rebecca; Davila, S; Flaherty, Maree; Kumar, V; Phua, Z.Y.; Prokudin, I; Simons, Cas; Smith, J; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye HealthExome sequencing in developmental eye disease leads to identfication of causal variants in GJA8, CRYGC, PAX6 and CYP1B1, European Journal of Human Genetics, vol.22, 7, 2014,pp 907-915
2012An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervationGomes, Lavier; Jamieson, Robyn; Menezes, Manoj; Andrews, Caroline; Cederquist, Gustav; Chan, Wai-Man; Chew, Sheena; Engle, Elizabeth C.; Flaherty, Maree; Grant, Patricia Ellen; Gupta, Mohan; Luchniak, Anna; Peeva, Maya; Song, Yuyu; Tischfield, Max A.; Western Clinical School: Imaging; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation, Human Molecular Genetics, vol.21, 26, 2012,pp 5484-5499
2013Microphthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features: Understanding the SpectrumGrigg, John; Jamieson, Robyn; Jones, Michael; Martin, Frank; Skalicky, Simon; White, Andrew; Donaldson, Craig E.; Flaherty, Maree; Smith, James; Smith, Jeremy; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Central Clinical School: Ophthalmology & Eye HealthMicrophthalmia, Anophthalmia, and Coloboma and Associated Ocular and Systemic Features: Understanding the Spectrum, JAMA Ophthalmology, vol.131, 12, 2013,pp 1517-1524
2018Monitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentialsBillson, Frank; Flaherty, Maree; Fraser, Clare; Graham, Stuart Lindsay; Grigg, John; Jayanetti, Viran; Klistorner, Alexander; Dexter, Mark; Jones, Kristi J; North, Kathryn N.; Wilson, Mark; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Ophthalmology & Eye Health; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye Health; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye HealthMonitoring of optic nerve function in Neurofibromatosis 2 children with optic nerve sheath meningiomas using multifocal visual evoked potentials, Journal of Clinical Neuroscience, vol.50, N/A, 2018,pp 262-267
2004Neurofibromatosis Type 1 And Optic Pathway Gliomas: Follow-Up Of 54 Patients.Billson, FranK; North, Kathryn; Thiagalingam, Sureka; Flaherty, Maree; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; School of Public Health: Public HealthNeurofibromatosis Type 1 And Optic Pathway Gliomas: Follow-Up Of 54 Patients., Ophthalmology, vol.111,(3),2004,pp 568-577
2009Novel SOX2 partner-factor domain mutation in a four-generation familyGrigg, John; Jamieson, Robyn; Tam, Patrick; Abraham, Peter; Chen, Yongjuan; Donald, Jenny; Flaherty, Maree; Gibson, Kate; Gole, Glen A.; Krowka, Renata; Mihelec, Marija; Storen, Rebecca; Susman, Rachel D.; Central Clinical School: Clinical Ophthal & Eye Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsNovel SOX2 partner-factor domain mutation in a four-generation family, European Journal of Human Genetics, vol.17, 11,pp 1417-1422
2017Ocular and electrophysiological findings in a patient with Sly syndromeCrofts, Stephanie; Flaherty, Maree; Geering, Katie; Grigg, John; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye Health; Save Sight Institute; Central Clinical School: Clinical Ophthal & Eye HealthOcular and electrophysiological findings in a patient with Sly syndrome, Ophthalmic Genetics, vol.38, 4, 2017,pp 376-379
2016Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation SequencingBennetts, Bruce; Billson, Frank; Cheng, Anson; Christodoulou, John; Flaherty, Maree; Fraser, Clare; Grigg, John; Jamieson, Robyn; Ma, Alan; Martin, Frank; Prokudin, Ivan; Farnsworth, Elizabeth; Ho, Gladys; Holman, katherine; Mowat, David; Smith, James; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Childrens Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Clinical Ophthal & Eye Health; Central Clinical School: Save Sight & Eye Health Inst.; Central Clinical School: Clinical Ophthal & Eye Health; Childrens Medical Research Institute (CMRI); Children's Hospital Westmead: Genetic Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Medical Research Institute (CMRI)Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing, Human Mutation, vol.37, 4, 2016,pp 371-384