Elizabeth Scotchman
Great Ormond Street Hospital(GB)Great Ormond Street Hospital for Children NHS Foundation Trust(GB)University College London(GB)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Fetal and Pediatric Neurological Disorders, Genomic variations and chromosomal abnormalities, Epilepsy research and treatment
Most-Cited Works
- → Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis(2022)217 cited
- → Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier(2019)88 cited
- → Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study(2023)71 cited
- → PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders(2020)69 cited
- → Non-invasive prenatal diagnosis and screening for monogenic disorders(2020)64 cited
- → Lessons learnt from prenatal exome sequencing(2022)44 cited