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| Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ... JAMA pediatrics 171 (9), 855-862, 2017 | 331 | 2017 |
| A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype T Cundy, M Hegde, D Naot, B Chong, A King, R Wallace, J Mulley, ... Human Molecular Genetics 11 (18), 2119-2127, 2002 | 288 | 2002 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian Public Health Care System S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 167 | 2020 |
| Meeting the challenges of implementing rapid genomic testing in acute pediatric care Z Stark, S Lunke, GR Brett, NB Tan, R Stapleton, S Kumble, A Yeung, ... Genetics in Medicine 20 (12), 1554-1563, 2018 | 151 | 2018 |
| Idiopathic Hyperphosphatasia and TNFRSF11B Mutations: Relationships Between Phenotype and Genotype B Chong, M Hegde, M Fawkner, S Simonet, H Cassinelli, M Coker, ... Journal of Bone and Mineral Research 18 (12), 2095-2104, 2003 | 141 | 2003 |
| A homozygous mutation in MSH6 causes Turcot syndrome MR Hegde, B Chong, ME Blazo, LHE Chin, PA Ward, MM Chintagumpala, ... Clinical cancer research 11 (13), 4689-4693, 2005 | 110 | 2005 |
| A comprehensive evaluation of myocardial fibrosis in hypertrophic cardiomyopathy with cardiac magnetic resonance imaging: linking genotype with fibrotic phenotype AH Ellims, LM Iles, L Ling, B Chong, I Macciocca, GS Slavin, JL Hare, ... European Heart Journal–Cardiovascular Imaging 15 (10), 1108-1116, 2014 | 101 | 2014 |
| Population screening and cascade testing for carriers of SMA M Smith, V Calabro, B Chong, N Gardiner, S Cowie, D du Sart European journal of human genetics 15 (7), 759-766, 2007 | 99 | 2007 |
| Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review NB Tan, R Stapleton, Z Stark, MB Delatycki, A Yeung, MF Hunter, ... Molecular genetics & genomic medicine 8 (11), e1508, 2020 | 85 | 2020 |
| Integrated multi-omics for rapid rare disease diagnosis on a national scale S Lunke, SE Bouffler, CV Patel, SA Sandaradura, M Wilson, J Pinner, ... Nature Medicine, 1-11, 2023 | 66 | 2023 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in Medicine 24 (1), 130-145, 2022 | 61 | 2022 |
| A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis TY Tan, S Lunke, B Chong, D Phelan, M Fanjul-Fernandez, JE Marum, ... European Journal of Human Genetics 27 (12), 1791-1799, 2019 | 55 | 2019 |
| Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy M Walsh, KM Bell, B Chong, E Creed, GR Brett, K Pope, NP Thorne, ... Annals of clinical and translational neurology 4 (5), 318-325, 2017 | 47 | 2017 |
| SMARCB1/INI1 maternal germ line mosaicism in schwannomatosis TJM Hulsebos, SB Kenter, ME Jakobs, F Baas, B Chong, MB Delatycki Clinical genetics 77 (1), 86-91, 2010 | 47 | 2010 |
| Detection of Sequence Variations in the Adenomatous Polyposis Coli (APC) Gene Using Denaturing High-Performance Liquid Chromatography G Wu, W Wu, M Hegde, M Fawkner, B Chong, D Love, LK Su, P Lynch, ... Genetic testing 5 (4), 281-290, 2001 | 44 | 2001 |
| Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6 M Hegde, M Blazo, B Chong, T Prior, C Richards The Journal of Molecular Diagnostics 7 (4), 525-534, 2005 | 43 | 2005 |
| Genetic, radiologic, and clinical variability in Brown-Vialetto-van Laere syndrome IR Woodcock, MP Menezes, L Coleman, J Yaplito-Lee, H Peters, ... Seminars in Pediatric Neurology 26, 2-9, 2018 | 35 | 2018 |
| Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T SV Khadilkar, RK Singh, M Hegde, A Urtizberea, DR Love, B Chong Neurology India 57 (4), 406, 2009 | 35 | 2009 |
| Prospective evaluation of the utility of whole exome sequencing in dilated cardiomyopathy J Ramchand, M Wallis, I Macciocca, E Lynch, O Farouque, M Martyn, ... Journal of the American Heart Association 9 (2), e013346, 2020 | 34 | 2020 |
