Kingston, Helen
4 papers on CoChat
Most cited papers
- Verified
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
Nicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., et al. (2007) · Nature Genetics
Muscle Physiology and DisordersGenomics and Rare Diseases
Cited by 434
- Verified
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation
Genomics and Rare DiseasesChromatin Remodeling and Cancer
Cited by 221
- Verified
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
- Verified
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
Go further with a free account
Verify every reference, keep papers in a library, and ask questions across them.
Sign up - it is free