Concepedia

Elizabeth Scotchman

ES

6

Publications

273

Citations

6

H-Index

2019

Active since

Affiliations

University College London(Current)

Great Ormond Street Hospital

Great Ormond Street Hospital for Children NHS Foundation Trust

Elizabeth Scotchman is an author at University College London specializing in pediatrics, genetics, and genomics.

ORCID

Top concepts

Publications per year

2019–2023

6

Publications

6

Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier

Elizabeth Scotchman, Natalie Chandler, Rhiannon Mellis et al. · Clinical Chemistry · 2019 · 87 citations · Full text

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

Alissa M. D’Gama, Sarah Mulhern, Beth Rosen Sheidley et al. · The Lancet Neurology · 2023 · 68 citations · Full text

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Lessons learnt from prenatal exome sequencing

Natalie Chandler, Elizabeth Scotchman, Rhiannon Mellis et al. · Prenatal Diagnosis · 2022 · 44 citations · Full text

Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders

Britt Hanson, Elizabeth Scotchman, Lyn S. Chitty et al. · Clinical Science · 2022 · 42 citations · Full text

Identification of mutants with increased variation in cell size at onset of mitosis in fission yeast

Elizabeth Scotchman, Kazunori Kume, Francisco J. Navarro et al. · Journal of Cell Science · 2021 · 21 citations · Full text

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