Sheridan, Eamonn

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 615

Health and population effects of rare gene knockouts in adult humans with related parents

Narasimhan, V. M., Hunt, K. A., Mason, D., Baker, C. L., Karczewski, K. J., Barnes, M. R., Barnett, A. H., Bates, C., Bellary, S., Bockett, N. A., et al. (2016) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 286

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., et al. (2014) · The American Journal of Human Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 174

Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 131

Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia

Vijayakrishnan, J., Studd, J., Broderick, P., Kinnersley, B., Holroyd, A., Law, P. J., Kumar, R., Allan, J. M., Harrison, C. J., Moorman, A. V., et al. (2018) · Nature Communications

Acute Lymphoblastic Leukemia researchGenetic Associations and Epidemiology

Cited by 84

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Diggle, C. P., Moore, D. J., Mali, G., zur Lage, P., Ait-Lounis, A., Schmidts, M., Shoemark, A., Garcia Munoz, A., Halachev, M. R., Gautier, P., et al. (2014) · PLoS Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 67

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 30