Chitty, Lyn S

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Ibañez, K., Polke, J., Hagelstrom, R. T., Dolzhenko, E., Pasko, D., Thomas, E. R. A., Daugherty, L. C., Kasperaviciute, D., Smith, K. R., McDonagh, E. M., et al. (2022) · The Lancet Neurology

Genetic Neurodegenerative DiseasesGenomics and Rare Diseases

Cited by 187

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

Chitty, L. S., Wright, D., Hill, M., Verhoef, T. I., Daley, R., Lewis, C., Mason, S., McKay, F., Jenkins, L., Howarth, A., et al. (2016) · BMJ

Prenatal Screening and DiagnosticsDown syndrome and intellectual disability research

Cited by 149

Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Hui, L., Ellis, K., Mayen, D., Pertile, M. D., Reimers, R., Sun, L., Vermeesch, J., Vora, N. L., & Chitty, L. S. (2023) · Prenatal Diagnosis

Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin Pregnancy

Cited by 109

Women’s Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study

Lewis, C., Hill, M., & Chitty, L. S. (2016) · PLOS ONE

Prenatal Screening and DiagnosticsMaternal and Perinatal Health Interventions

Cited by 85

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

D'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E. J., Holland, J., et al. (2023) · The Lancet Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 80

Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound

David, A. L., Turnbull, C., Scott, R., Freeman, J., Bilardo, C. M., van Maarle, M., & Chitty, L. S. (2007) · Prenatal Diagnosis

Prenatal Screening and DiagnosticsCraniofacial Disorders and Treatments

Cited by 61

Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study

Peter, M., Hammond, J., Sanderson, S. C., Gurasashvili, J., Hunter, A., Searle, B., Patch, C., Chitty, L. S., Hill, M., & Lewis, C. (2022) · European Journal of Human Genetics

Genomics and Rare DiseasesEthics and Legal Issues in Pediatric Healthcare

Cited by 37