Pollard, Martin

Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7

Luo, Y., de Lange, K. M., Jostins, L., Moutsianas, L., Randall, J., Kennedy, N. A., Lamb, C. A., McCarthy, S., Ahmad, T., Edwards, C., et al. (2017) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

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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

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Very low-depth whole-genome sequencing in complex trait association studies

Gilly, A., Southam, L., Suveges, D., Kuchenbaecker, K., Moore, R., Melloni, G. E. M., Hatzikotoulas, K., Farmaki, A.-E., Ritchie, G., Schwartzentruber, J., et al. (2019) · Bioinformatics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 93

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

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