Suri, Mohnish

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

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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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Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers-Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

Syx, D., Van Damme, T., Symoens, S., Maiburg, M. C., van de Laar, I., Morton, J., Suri, M., Del Campo, M., Hausser, I., Hermanns-Lê, T., et al. (2015) · Human Mutation

Proteoglycans and glycosaminoglycans researchConnective tissue disorders research

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Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Hamilton, M. J., Caswell, R. C., Canham, N., Cole, T., Firth, H. V., Foulds, N., Heimdal, K., Hobson, E., Houge, G., Joss, S., et al. (2018) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: Phenotype comparison in two related syndromes

Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., et al. (2020) · Journal of Intellectual Disability Research

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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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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Genetic variants predisposing to an increased risk of kidney stone disease

Lovegrove, C. E., Goldsworthy, M., Haley, J., Smelser, D., Gorvin, C., Hannan, F. M., Mahajan, A., Suri, M., Sadeghi-Alavijeh, O., Moochhala, S. H., et al. (2025) · Journal of Clinical Investigation

Kidney Stones and Urolithiasis TreatmentsGenetic Associations and Epidemiology

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