Browsing by Author Prokudin, I

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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
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
2015Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patientsJamieson, Robyn; Wilson, Meredith; Chen, Yulan; Goodwin, Linda; Guo, Yiran; Hakonarson, Hákon H.; He, Sijie; Keating, Brendan; Li, Dong; Liang, Jinlong; Prokudin, I; Rose, Loreto; Tian, Lifeng; Xu, Xun; Childrens Medical Research Institute (CMRI); Childrens Hospital Westmead: Paediatrics & Child HealthValue of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients, Clinical and Experimental Ophthalmology, vol.43, 2, 2015,pp 132-138