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Belinda Chong

murdoch children’s research institute
H指数:26
被引数:2,638

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Increased yield of genetic diagnoses in inherited heart diseases using expanded genome and RNA-splicing analyses

使用扩展基因组学和RNA剪接分析提高遗传性心脏病的基因诊断产量

2025-10-290
OAAI
Integrated multi-omics for rapid rare disease diagnosis on a national scale
2023-06-0835
OAAI
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

Shariant平台: 支持澳大利亚临床基因检测实验室之间的证据共享,以支持变异解释

2022-11-0113
OAAI
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

使用临床可获得的标本进行RNA诊断的标准化实践重新分类了推定的剪接变体的75%

2022-01-0157
PRE
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective
2021-01-0121
OAAI
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

在复杂儿科患者的前瞻性与历史队列中进行基因组测序的成本效益分析

2020-12-0124
OAAI
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020-11-010
PRE
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

与TRAF7种系变异相关的表型谱和转录组谱

2020-07-0124
OAAI
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020-06-23161
OAAI
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
2018-12-01127
OAAI
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
2017-09-01238
OAAI
Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy
2017-04-2633
OAAI
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
2016-11-01294
OAAI