Gladys Ho
Affiliations: | School of Biological Sciences | University of Sydney, Camperdown, New South Wales, Australia |
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"Gladys Ho"
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| Innes EA, Goetti R, Mahant N, et al. (2022) SPG11 presenting with dystonic tremor in childhood. Parkinsonism & Related Disorders. 99: 76-78 |
| Van Bergen NJ, Ahmed SM, Collins F, et al. (2020) Mutations in the exocyst component EXOC2 cause severe defects in human brain development. The Journal of Experimental Medicine. 217 |
| Ma A, Yousoof S, Grigg JR, et al. (2020) Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics |
| Hudson R, Patel C, Hawley CM, et al. (2019) Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants. American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation |
| Forbes TA, Howden SE, Lawlor K, et al. (2018) Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms. American Journal of Human Genetics |
| Hung D, Bennetts B, Farnsworth E, et al. (2018) Investigation of genetic mutations in primary immunodeficiency (PID) using massively parallel sequencing (MPS) with a targeted gene panel approach Pathology. 50 |
| Mallett AJ, McCarthy HJ, Ho G, et al. (2017) Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International |
| Krishnaraj R, Ho G, Christodoulou J. (2017) RettBASE: Rett Syndrome Database Update. Human Mutation |
| Smith T, Ho G, Christodoulou J, et al. (2016) Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease. Human Mutation |
| Ma AS, Grigg JR, Ho G, et al. (2015) Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing. Human Mutation |