Matthew F. Hunter
Monash Health(AU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, RNA modifications and cancer, Autism Spectrum Disorder Research
Most-Cited Works
- → Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response(2009)682 cited
- → Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort(2016)389 cited
- → Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System(2020)231 cited
- → Meeting the challenges of implementing rapid genomic testing in acute pediatric care(2018)162 cited
- → Integrated multi-omics for rapid rare disease diagnosis on a national scale(2023)124 cited
- → Phenotypic insights into ADCY5‐associated disease(2016)122 cited
- → Clinical impact of genomic testing in patients with suspected monogenic kidney disease(2020)119 cited
- → Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants(2021)103 cited
- → FOXP1 mutations cause intellectual disability and a recognizable phenotype(2013)101 cited
- → Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review(2020)83 cited