Hurles, Matthew E.

Deletions of chromosomal regulatory boundaries are associated with congenital disease

Ibn-Salem, J., Köhler, S., Love, M. I., Chung, H.-R., Huang, N., Hurles, M. E., Haendel, M., Washington, N. L., Smedley, D., Mungall, C. J., et al. (2014) · Genome Biology

Genomic variations and chromosomal abnormalitiesGenomics and Chromatin Dynamics

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A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

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

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Houge, G., Haesen, D., Vissers, L. E. L. M., Mehta, S., Parker, M. J., Wright, M., Vogt, J., McKee, S., Tolmie, J. L., Cordeiro, N., et al. (2015) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersProtein Tyrosine Phosphatases

Cited by 124

Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy

Muona, M., Ishimura, R., Laari, A., Ichimura, Y., Linnankivi, T., Keski-Filppula, R., Herva, R., Rantala, H., Paetau, A., Pöyhönen, M., et al. (2016) · The American Journal of Human Genetics

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 119

Untangling Oceanic settlement: the edge of the knowable

Hurles, M. E., Matisoo-Smith, E., Gray, R. D., & Penny, D. (2003) · Trends in Ecology & Evolution

Pacific and Southeast Asian StudiesLanguage and cultural evolution

Cited by 118

European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA

Hurles, M. E., Irven, C., Nicholson, J., Taylor, P. G., Santos, F. R., Loughlin, J., Jobling, M. A., & Sykes, B. C. (1998) · The American Journal of Human Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 112

Whole-genome sequence-based analysis of thyroid function

Taylor, P. N., Porcu, E., Chew, S., Campbell, P. J., Traglia, M., Brown, S. J., Mullin, B. H., Shihab, H. A., Min, J., Walter, K., et al. (2015) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 104

Analysis of deletion breakpoints from 1,092 humans reveals details of mutation mechanisms

Abyzov, A., Li, S., Kim, D. R., Mohiyuddin, M., Stütz, A. M., Parrish, N. F., Mu, X. J., Clark, W., Chen, K., Hurles, M., et al. (2015) · Nature Communications

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 91

A minimal role for synonymous variation in human disease

Dhindsa, R. S., Wang, Q., Vitsios, D., Burren, O. S., Hu, F., DiCarlo, J. E., Kruglyak, L., MacArthur, D. G., Hurles, M. E., & Petrovski, S. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 38

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

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. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 36

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

Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

Allen, S., Garrett, A., Muffley, L., Fayer, S., Foreman, J., Adams, D. J., Hurles, M., Rubin, A. F., Roth, F. P., Starita, L. M., et al. (2024) · European Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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