| Year |
Citation |
Score |
| 2022 |
Innes EA, Goetti R, Mahant N, Ho G, Williams L, Gill D, Dale RC, Mohammad SS. SPG11 presenting with dystonic tremor in childhood. Parkinsonism & Related Disorders. 99: 76-78. PMID 35617747 DOI: 10.1016/j.parkreldis.2022.05.011 |
0.31 |
|
| 2020 |
Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, et al. Mutations in the exocyst component EXOC2 cause severe defects in human brain development. The Journal of Experimental Medicine. 217. PMID 32639540 DOI: 10.1084/Jem.20192040 |
0.362 |
|
| 2020 |
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, et al. Revealing hidden genetic diagnoses in the ocular anterior segment disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32499604 DOI: 10.1038/S41436-020-0854-X |
0.303 |
|
| 2019 |
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. 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. PMID 31810733 DOI: 10.1053/J.Ajkd.2019.08.031 |
0.334 |
|
| 2018 |
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, et al. Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms. American Journal of Human Genetics. PMID 29706353 DOI: 10.1016/J.Ajhg.2018.03.014 |
0.339 |
|
| 2018 |
Hung D, Bennetts B, Farnsworth E, Ho G, Holman K, Williams A, Wong M. Investigation of genetic mutations in primary immunodeficiency (PID) using massively parallel sequencing (MPS) with a targeted gene panel approach Pathology. 50. DOI: 10.1016/J.Pathol.2017.12.279 |
0.383 |
|
| 2017 |
Mallett AJ, McCarthy HJ, Ho G, Holman K, Farnsworth E, Patel C, Fletcher JT, Mallawaarachchi A, Quinlan C, Bennetts B, Alexander SI. Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International. PMID 28844315 DOI: 10.1016/J.Kint.2017.06.013 |
0.385 |
|
| 2017 |
Krishnaraj R, Ho G, Christodoulou J. RettBASE: Rett Syndrome Database Update. Human Mutation. PMID 28544139 DOI: 10.1002/Humu.23263 |
0.444 |
|
| 2016 |
Smith T, Ho G, Christodoulou J, Price EA, Onadim Z, Gauthier-Villars M, Dehainault C, Houdayer C, Parfait B, van Minkelen R, Lohman D, Eyre-Walker A. Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease. Human Mutation. PMID 26857394 DOI: 10.1002/Humu.22967 |
0.366 |
|
| 2015 |
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, et al. Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing. Human Mutation. PMID 26694549 DOI: 10.1002/Humu.22948 |
0.442 |
|
| 2015 |
Fehr S, Leonard H, Ho G, Williams S, de Klerk N, Forbes D, Christodoulou J, Downs J. There is variability in the attainment of developmental milestones in the CDKL5 disorder. Journal of Neurodevelopmental Disorders. 7: 2. PMID 25657822 DOI: 10.1186/1866-1955-7-2 |
0.379 |
|
| 2015 |
Ho G, Gold W, Williamson SL, Christodoulou J. Pathogenicity of C-terminal mutations in CDKL5 Journal of Pediatric Epilepsy. 1: 185-186. DOI: 10.3233/Pep-2012-029 |
0.412 |
|
| 2014 |
Ho G, Christodoulou J. Phenylketonuria: translating research into novel therapies. Translational Pediatrics. 3: 49-62. PMID 26835324 DOI: 10.3978/J.Issn.2224-4336.2014.01.01 |
0.314 |
|
| 2013 |
Ho G, Reichardt J, Christodoulou J. In vitro read-through of phenylalanine hydroxylase (PAH) nonsense mutations using aminoglycosides: a potential therapy for phenylketonuria. Journal of Inherited Metabolic Disease. 36: 955-9. PMID 23532445 DOI: 10.1007/S10545-013-9602-6 |
0.394 |
|
| 2013 |
Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J. 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. European Journal of Human Genetics : Ejhg. 21: 522-7. PMID 22968132 DOI: 10.1038/Ejhg.2012.208 |
0.429 |
|
| 2013 |
Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X, de Klerk N, Leonard H, Christodoulou J. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics : Ejhg. 21: 266-73. PMID 22872100 DOI: 10.1038/Ejhg.2012.156 |
0.412 |
|
| 2012 |
Armani R, Archer H, Clarke A, Vasudevan P, Zweier C, Ho G, Williamson S, Cloosterman D, Yang N, Christodoulou J. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. American Journal of Medical Genetics. Part A. 158: 713-9. PMID 22383159 DOI: 10.1002/Ajmg.A.34206 |
0.432 |
|
| 2012 |
Georgiou T, Ho G, Vogazianos M, Dionysiou M, Nicolaou A, Chappa G, Nicolaides P, Stylianidou G, Christodoulou J, Drousiotou A. The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening. Clinical Biochemistry. 45: 588-92. PMID 22330942 DOI: 10.1016/J.Clinbiochem.2012.01.026 |
0.363 |
|
| 2011 |
Ho G, Yonezawa A, Masuda S, Inui K, Sim KG, Carpenter K, Olsen RK, Mitchell JJ, Rhead WJ, Peters G, Christodoulou J. Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Human Mutation. 32: E1976-84. PMID 21089064 DOI: 10.1002/Humu.21399 |
0.319 |
|
| 2010 |
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, et al. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 13: 168-78. PMID 20397747 DOI: 10.1375/Twin.13.2.168 |
0.426 |
|
| 2009 |
Zeev BB, Bebbington A, Ho G, Leonard H, Klerk Nd, Gak E, Vecksler M, Christodoulou J. The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome Neurology. 72: 1242-1247. PMID 19349604 DOI: 10.1212/01.Wnl.0000345664.72220.6A |
0.35 |
|
| 2008 |
Ho G, Walter JH, Christodoulou J. Costeff optic atrophy syndrome: new clinical case and novel molecular findings. Journal of Inherited Metabolic Disease. 31: 419-423. PMID 18985435 DOI: 10.1007/S10545-008-0981-Z |
0.375 |
|
| 2007 |
Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RK, Christodoulou J. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molecular Genetics and Metabolism. 92: 109-14. PMID 17689999 DOI: 10.1016/J.Ymgme.2007.06.017 |
0.338 |
|
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