Sophie B. Shaw

Heath Park
Cardiff, WLS, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: medRxiv : the preprint server for health sciences

Published: February 06, 2026

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

Journal: European journal of human genetics : EJHG

Published: February 02, 2026

Wearable Electronic Monitoring of Vital Signs in Hospitalised Adults: A Nursing Focused Scoping Review of Clinical, Economic and Implementation Outcomes.

Wearable Electronic Monitoring of Vital Signs in Hospitalised Adults: A Nursing Focused Scoping Review of Clinical, Economic and Implementation Outcomes.

Journal: Journal of advanced nursing

Published: May 21, 2025

Novel insights into carbohydrate utilisation, antimicrobial resistance, and sporulation potential in Roseburia intestinalis isolates across diverse geographical locations.

Novel insights into carbohydrate utilisation, antimicrobial resistance, and sporulation potential in Roseburia intestinalis isolates across diverse geographical locations.

Journal: Gut microbes

Published: March 16, 2025

Identification of lens-regulated genes driving anterior eye development.

Identification of lens-regulated genes driving anterior eye development.

Journal: Developmental biology

Published: August 13, 2024

The Genomic Signature and Transcriptional Response of Metal Tolerance in Brown Trout Inhabiting Metal-Polluted Rivers.

The Genomic Signature and Transcriptional Response of Metal Tolerance in Brown Trout Inhabiting Metal-Polluted Rivers.

Journal: Molecular ecology

Published: July 29, 2024

Linking epidemiology and genomics of maternal smoking during pregnancy in utero and in ageing: a population-based study using human foetuses and the UK Biobank cohort.

Linking epidemiology and genomics of maternal smoking during pregnancy in utero and in ageing: a population-based study using human foetuses and the UK Biobank cohort.

Journal: EBioMedicine

Published: July 25, 2024

A CO2 sensing module modulates β-1,3-glucan exposure in Candida albicans.

A CO2 sensing module modulates β-1,3-glucan exposure in Candida albicans.

Journal: mBio

Published: January 23, 2024

Candida auris undergoes adhesin-dependent and -independent cellular aggregation.

Candida auris undergoes adhesin-dependent and -independent cellular aggregation.

Journal: PLoS pathogens

Published: April 21, 2023

In utero exposures to perfluoroalkyl substances and the human fetal liver metabolome in Scotland: a cross-sectional study.

In utero exposures to perfluoroalkyl substances and the human fetal liver metabolome in Scotland: a cross-sectional study.

Journal: The Lancet. Planetary health

Published: February 27, 2023

Rapid genome sequencing for pediatrics.

Rapid genome sequencing for pediatrics.

Journal: Human mutation

Published: July 22, 2022

Comparison of microbial signatures between paired faecal and rectal biopsy samples from healthy volunteers using next-generation sequencing and culturomics.

Comparison of microbial signatures between paired faecal and rectal biopsy samples from healthy volunteers using next-generation sequencing and culturomics.

Journal: Microbiome

Published: April 01, 2022

Showing 1-12 of 32

Last Updated: 09/26/2026