Chitre, Manali

Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial

Marson, A., Burnside, G., Appleton, R., Smith, D., Leach, J. P., Sills, G., Tudur-Smith, C., Plumpton, C., Hughes, D. A., Williamson, P., et al. (2021) · The Lancet

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 208

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

O'Callaghan, F. J. K., Edwards, S. W., Alber, F. D., Cortina Borja, M., Hancock, E., Johnson, A. L., Kennedy, C. R., Likeman, M., Lux, A. L., Mackay, M. T., et al. (2018) · The Lancet Child & Adolescent Health

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 167

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., et al. (2020) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 76

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 41

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

Sanchis-Juan, A., Megy, K., Stephens, J., Armirola Ricaurte, C., Dewhurst, E., Low, K., French, C. E., Grozeva, D., Stirrups, K., Erwood, M., et al. (2023) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenomic variations and chromosomal abnormalities

Cited by 24