Search Results - "Scotchman, Elizabeth"

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

“…Objectives We conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal…”
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Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier by Scotchman, Elizabeth, Chandler, Natalie J, Mellis, Rhiannon, Chitty, Lyn S

“…Cell-free fetal DNA (cffDNA) is present in the maternal blood from around 4 weeks gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA)…”
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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 by Hanson, Britt, Scotchman, Elizabeth, Chitty, Lyn S, Chandler, Natalie J

“…Cell-free fetal DNA (cffDNA) is released into the maternal circulation from trophoblastic cells during pregnancy, is detectable from 4 weeks and is…”
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Lessons learnt from prenatal exome sequencing by Chandler, Natalie J., Scotchman, Elizabeth, Mellis, Rhiannon, Ramachandran, Vijaya, Roberts, Rowenna, Chitty, Lyn S.

“…Background Prenatal exome sequencing (ES) for monogenic disorders in fetuses with structural anomalies increases diagnostic yield. In England there is a…”
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Identification of mutants with increased variation in cell size at onset of mitosis in fission yeast by Scotchman, Elizabeth, Kume, Kazunori, Navarro, Francisco J, Nurse, Paul

“…Fission yeast cells divide at a similar cell length with little variation about the mean. This is thought to be the result of a control mechanism that senses…”
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Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families by Hanson, Britt, Shaw, Joe, Povarnitsyn, Nikita, Bowns, Benjamin, Young, Elizabeth, Gerrish, Amy, Allen, Stephanie, Scotchman, Elizabeth, Chitty, Lyn S, Chandler, Natalie J

“…Cell-free fetal DNA exists within the maternal bloodstream during pregnancy and provides a means for noninvasive prenatal diagnosis (NIPD). Our accredited…”
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Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches by Shaw, Joe, Scotchman, Elizabeth, Paternoster, Ben, Ramos, Maureen, Nesbitt, Sarah, Sheppard, Sophie, Snowsill, Tristan, Chitty, Lyn S., Chandler, Natalie

“…Objectives To develop a flexible droplet digital PCR (ddPCR) workflow to perform non‐invasive prenatal diagnosis via relative mutation dosage (RMD) for…”
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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 by D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, McTague, Amy

“…Most neonatal and infantile-onset epilepsies have presumed genetic aetiologies, and early genetic diagnoses have the potential to inform clinical management…”
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Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications by Macken, William L, Falabella, Micol, Pizzamiglio, Chiara, Woodward, Cathy E, Scotchman, Elizabeth, Chitty, Lyn S, Polke, James M, Bugiardini, Enrico, Hanna, Michael G, Vandrovcova, Jana, Chandler, Natalie, Labrum, Robyn, Pitceathly, Robert D S

“…Primary mitochondrial diseases (PMDs) comprise a large and heterogeneous group of genetic diseases that result from pathogenic variants in either nuclear DNA…”
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