Publications by authors named "Elizabeth Scotchman"

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Parental Somatic Mosaicism Detected During Prenatal Diagnosis.
Natalie J Chandler, Elizabeth Scotchman, Fiona McKay, Vijaya Ramachandran, Lyn S Chitty

Prenat Diagn· February 2025

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Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families.
Britt Hanson, Joe Shaw, Nikita Povarnitsyn, Benjamin Bowns, Elizabeth Young, Elizabeth Scotchman

Clin Chem· May 2024

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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications.
William L Macken, Micol Falabella, Chiara Pizzamiglio, Cathy E Woodward, Elizabeth Scotchman

Expert Rev Mol Diagn· October 2023

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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 R Sheidley, Fadil Boodhoo, Sarah Buts, Elizabeth Scotchman

Lancet Neurol· September 2023

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Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches.
Joe Shaw, Elizabeth Scotchman, Ben Paternoster, Maureen Ramos, Sarah Nesbitt

Prenat Diagn· April 2023

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Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.
Britt Hanson, Ben Paternoster, Nikita Povarnitsyn, Elizabeth Scotchman, Lyn Chitty

Extracell Vesicles Circ Nucl Acids· February 2023

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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, Natalie J Chandler

Clin Sci (Lond)· November 2022

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Lessons learnt from prenatal exome sequencing.
Natalie J Chandler, Elizabeth Scotchman, Rhiannon Mellis, Vijaya Ramachandran, Rowenna Roberts

Prenat Diagn· June 2022

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Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis.
Rhiannon Mellis, Kathryn Oprych, Elizabeth Scotchman, Melissa Hill, Lyn S Chitty

Prenat Diagn· May 2022

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Identification of mutants with increased variation in cell size at onset of mitosis in fission yeast.
Elizabeth Scotchman, Kazunori Kume, Francisco J Navarro, Paul Nurse

J Cell Sci· February 2021

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Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
Elizabeth Scotchman, Natalie J Chandler, Rhiannon Mellis, Lyn S Chitty

Clin Chem· January 2020

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