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Items where Author is "Javadiyan, S"
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Number of items: 10.
Article
Javadiyan, S, Craig, JE, Sharma, S, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017
, 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)'
, BMC Medical Genetics, vol. 18, no. 1
, pp. 1-6
, doi: https://doi.org/10.1186/s12881-017-0414-7.
Javadiyan, S, Craig, JE, Sharma, Shiwani, Lower, KM, Casey, T, Haan, E, Souzeau, E and Burdon, KP ORCID: 0000-0001-8217-1249 2017
, 'Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)'
, BMC Medical Genetics, vol. 18, no. 1
, pp. 1-6
, doi: https://doi.org/10.1186/s12881-017-0414-7.
Javadiyan, S, Craig, JE, Souzeau, E, Sharma, S, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017
, 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia'
, G3: Genes, Genomes, Genetics, vol. 7, no. 10
, pp. 3257-3268
, doi: https://doi.org/10.1534/g3.117.300109.
Javadiyan, S, Craig, JE, Souzeau, E, Sharma, Shiwani, Lower, KM, Mackey, DA, Staffieri, SE, Elder, JE, Taranath, D, Straga, T, Black, J, Pater, J, Casey, T, Hewitt, AW ORCID: 0000-0002-5123-5999 and Burdon, KP ORCID: 0000-0001-8217-1249 2017
, 'High-throughput genetic screening of 51 pediatric cataract genes identifies causative mutations in inherited pediatric cataract in South Eastern Australia'
, G3: Genes, Genomes, Genetics, vol. 7, no. 10
, pp. 3257-3268
, doi: https://doi.org/10.1534/g3.117.300109.
Javadiyan, S, Lucas, SEM ORCID: 0000-0003-0104-5406, Wangmo, D, Ngy, M, Edussuriya, K, Craig, JE, Rudkin, A, Casson, R, Selva, D, Sharma, Shiwani, Lower, KM, Meucke, J and Burdon, KP ORCID: 0000-0001-8217-1249 2018
, 'Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka'
, Molecular Genetics & Genomic Medicine
, pp. 1-10
, doi: https://doi.org/10.1002/mgg3.406.
Siggs, OM, Javadiyan, S, Sharma, S, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract'
, European Journal of Human Genetics, vol. 25, no. 6
, pp. 711-718
, doi: https://doi.org/10.1038/ejhg.2017.33.
Siggs, OM, Javadiyan, S, Sharma, Shiwani, Souzeau, E, Lower, KM, Taranath, DA, Black, J, Pater, J, Willoughby, JG, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2017
, 'Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract'
, European Journal of Human Genetics, vol. 25, no. 6
, pp. 711-718
, doi: https://doi.org/10.1038/ejhg.2017.33.
Siggs, OM, Souzeau, E, Taranath, DA, Dubowsky, A, Chappell, A, Zhou, T, Javadiyan, S, Nicholl, J, Kearns, LS, Staffieri, SE, Narita, A, Smith, JEH, Pater, J, Hewitt, AW ORCID: 0000-0002-5123-5999, Ruddle, JB, Elder, JE, Mackey, DA, Burdon, KP ORCID: 0000-0001-8217-1249 and Craig, JE 2020
, 'Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma'
, Ophthalmology, vol. 127, no. 6
, pp. 758-766
, doi: https://doi.org/10.1016/j.ophtha.2019.12.024.
Thomson, BR, Souma, T, Tompson, SW, Onay, T, Kizhatil, K, Siggs, OM, Feng, L, Whisenhunt, KN, Yanovitch, TL, Kalaydjieva, L, Azmanov, DN, Finzi, S, Tanna, CE, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Bradfield, YS, Souzeau, E, Javadiyan, S, Wiggs, JL, Pasutto, F, Liu, X, John, SWM, Craig, JE, Jin, J, Young, TL and Quaggin, SE 2017
, 'Angiopoietin-1 is required for Schlemm's canal development in mice and humans'
, Journal of Clinical Investigation
, pp. 1-16
, doi: https://doi.org/10.1172/JCI95545.
Thomson, BR, Souma, T, Tompson, SW, Onay, T, Kizhatil, K, Siggs, OM, Feng, L, Whisenhunt, KN, Yanovitch, TL, Kalaydjieva, L, Azmanov, DN, Finzi, S, Tanna, CE, Hewitt, AW ORCID: 0000-0002-5123-5999, Mackey, DA, Bradfield, YS, Souzeau, E, Javadiyan, S, Wiggs, JL, Pasutto, F, Liu, X, John, SWM, Craig, JE, Jin, J, Young, TL and Quaggin, SE 2017
, 'Angiopoietin-1 is required for Schlemm's canal development in mice and humans'
, Journal of Clinical Investigation, vol. 127, no. 12
, pp. 4421-4436
, doi: https://doi.org/10.1172/JCI95545.
This list was generated on Thu Jun 1 02:25:27 2023 AEST.