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D

Dean Phelan

Melbourne Genomics Health Alliance
H指数:23
被引数:2,189

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Integrated multi-omics for rapid rare disease diagnosis on a national scale
2023-06-0835
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
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants
2020-07-0133
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
Pathogenic Variants in GPC4 Cause Keipert Syndrome
2019-05-0122
OAAI
Meeting the challenges of implementing rapid genomic testing in acute pediatric care
2018-12-01127
OAAI
NKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network

NKX2-5通过HEY2依赖性转录网络调节人类心肌发生

2018-04-1084
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
ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathyaEuro
2016-04-2249
OAAI