Michael F. Buckley
University of Manchester(GB)Prince of Wales Hospital(AU)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments, Genetic factors in colorectal cancer
Most-Cited Works
- → Next‐generation genetic testing for retinitis pigmentosa(2012)284 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
- → Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan(2012)209 cited
- → Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders(2018)193 cited
- → Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2(2012)161 cited
- → A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9(2012)140 cited