Wilson, Meredith

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., et al. (2014) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V, Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., et al. (2020) · JAMA

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

Cited by 135

Parental experiences of ultrarapid genomic testing for their critically unwell infants and children

Brett, G. R., Martyn, M., Lynch, F., de Silva, M. G., Ayres, S., Gallacher, L., Boggs, K., Baxendale, A., Schenscher, S., King-Smith, S., et al. (2020) · Genetics in Medicine

Genomics and Rare DiseasesEthics and Legal Issues in Pediatric Healthcare

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