Roscioli, Tony

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 239

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Justice, C. M., Yagnik, G., Kim, Y., Peter, I., Jabs, E. W., Erazo, M., Ye, X., Ainehsazan, E., Shi, L., Cunningham, M. L., et al. (2012) · Nature Genetics

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 140

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

Palmer, E. E., Schofield, D., Shrestha, R., Kandula, T., Macintosh, R., Lawson, J. A., Andrews, I., Sampaio, H., Johnson, A. M., Farrar, M. A., et al. (2018) · Molecular Genetics & Genomic Medicine

Genomics and Rare DiseasesEpilepsy research and treatment

Cited by 113

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

Levy, M. A., Relator, R., McConkey, H., Pranckeviciene, E., Kerkhof, J., Barat‐Houari, M., Bargiacchi, S., Biamino, E., Palomares Bralo, M., Cappuccio, G., et al. (2022) · Human Mutation

Epigenetics and DNA MethylationGenetics and Neurodevelopmental Disorders

Cited by 76

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Bochukova, E. G., Roscioli, T., Hedges, D. J., Taylor, I. B., Johnson, D., David, D. J., Deininger, P. L., & Wilkie, A. O. M. (2009) · Human Mutation

Craniofacial Disorders and TreatmentsGenomics and Rare Diseases

Cited by 66

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

LaFlamme, C. W., Rastin, C., Sengupta, S., Pennington, H. E., Russ-Hall, S. J., Schneider, A. L., Bonkowski, E. S., Almanza Fuerte, E. P., Allan, T. J., Zalusky, M. P.-G., et al. (2024) · Nature Communications

Epilepsy research and treatmentEpigenetics and DNA Methylation

Cited by 31

Somatic FGFR and TWIST Mutations are not a Common Cause of Isolated Nonsyndromic Single Suture Craniosynostosis

Anderson, P. J., Cox, T. C., Roscioli, T., Elakis, G., Smithers, L., David, D. J., & Powell, B. (2007) · Journal of Craniofacial Surgery

Craniofacial Disorders and Treatmentsdental development and anomalies

Cited by 23

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13