Ho G - Search Results

1

Intronic variants in inborn errors of metabolism: Beyond the exome.

Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K. Hertzog A, et al. Among authors: ho g. Front Genet. 2022 Dec 6;13:1031495. doi: 10.3389/fgene.2022.1031495. eCollection 2022. Front Genet. 2022. PMID: 36561316 Free PMC article.

2

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Among authors: ho g. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747

3

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Ho G, Alexander I, Bhattacharya K, Dennison B, Ellaway C, Thompson S, Wilcken B, Christodoulou J. Ho G, et al. JIMD Rep. 2014;14:55-65. doi: 10.1007/8904_2013_284. Epub 2013 Dec 25. JIMD Rep. 2014. PMID: 24368688 Free PMC article.

4

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. Ma AS, et al. Among authors: ho g. Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14. Hum Mutat. 2016. PMID: 26694549 Free PMC article.

5

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C, Fletcher JT, Mallawaarachchi A, Quinlan C, Bennetts B, Alexander SI. Mallett AJ, et al. Among authors: ho g. Kidney Int. 2017 Dec;92(6):1493-1506. doi: 10.1016/j.kint.2017.06.013. Epub 2017 Aug 23. Kidney Int. 2017. PMID: 28844315 Free article.

6

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms.

Forbes TA, Howden SE, Lawlor K, Phipson B, Maksimovic J, Hale L, Wilson S, Quinlan C, Ho G, Holman K, Bennetts B, Crawford J, Trnka P, Oshlack A, Patel C, Mallett A, Simons C, Little MH. Forbes TA, et al. Among authors: ho g. Am J Hum Genet. 2018 May 3;102(5):816-831. doi: 10.1016/j.ajhg.2018.03.014. Epub 2018 Apr 26. Am J Hum Genet. 2018. PMID: 29706353 Free PMC article.

7

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Kothur K, Holman K, Farnsworth E, Ho G, Lorentzos M, Troedson C, Gupta S, Webster R, Procopis PG, Menezes MP, Antony J, Ardern-Holmes S, Dale RC, Christodoulou J, Gill D, Bennetts B. Kothur K, et al. Among authors: ho g. Seizure. 2018 Jul;59:132-140. doi: 10.1016/j.seizure.2018.05.005. Epub 2018 May 28. Seizure. 2018. PMID: 29852413 Free article.

8

CFHR5 Nephropathy in a Greek-Cypriot Australian Family: Ancestry-Informed Precision Medicine.

Ng MSY, McClymont K, McCallum N, Dua R, Holman K, Bennetts B, Ho G, Patel C, Mallett AJ. Ng MSY, et al. Among authors: ho g. Kidney Int Rep. 2018 Apr 22;3(5):1222-1228. doi: 10.1016/j.ekir.2018.04.007. eCollection 2018 Sep. Kidney Int Rep. 2018. PMID: 30197990 Free PMC article. No abstract available.

9

Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants.

Hudson R, Patel C, Hawley CM, O'Shea S, Snelling P, Ho G, Holman K, Bennetts B, Crawford J, Francis L, Simons C, Mallett A. Hudson R, et al. Among authors: ho g. Am J Kidney Dis. 2020 Aug;76(2):282-287. doi: 10.1053/j.ajkd.2019.08.031. Epub 2019 Dec 4. Am J Kidney Dis. 2020. PMID: 31810733 Free article.

10

Revealing hidden genetic diagnoses in the ocular anterior segment disorders.

Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: ho g. Genet Med. 2020 Oct;22(10):1623-1632. doi: 10.1038/s41436-020-0854-x. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499604 Free PMC article.

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