J. O'Byrne

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland

D. Keegan, G. Silvestri, P. Humphries, 2020, Genes.

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

D. Keegan, R. Pandey, G. Silvestri, 2021, Orphanet Journal of Rare Diseases.

Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations

M. King, D. Betts, J. O'Byrne, 2016, Irish Journal of Medical Science (1971 -).

Management of significant secondary genetic findings in an ophthalmic genetics clinic

D. Keegan, J. O'Byrne, Julia Zhu, 2021, Eye.

Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings

W. Reardon, E. Phelan, W. Van Hul, 2016, Clinical dysmorphology.

Ictal aphasia in LGI1-related autosomal dominant epilepsy with auditory features

T. Lynch, J. McHugh, J. O'Byrne, 2022, Practical Neurology.

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

S. Züchner, M. Lek, F. Muntoni, 2013, Brain : a journal of neurology.

Incidence of Fragile X syndrome in Ireland

D. Barton, S. Lynch, D. Donnelly, 2017, American journal of medical genetics. Part A.