Amy Gerrish
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View article: Contrast‐Enhanced Ultrasound (CEUS) Reveals Perfusion of Human Bone in Acute Fracture Healing: A Pilot Study
Contrast‐Enhanced Ultrasound (CEUS) Reveals Perfusion of Human Bone in Acute Fracture Healing: A Pilot Study Open
Bone fractures are common injuries with reported non‐union rates of up to 9%. Current treatments for non‐union include surgery with complication rates of up to 17% and significant costs. Microbubbles are used clinically in ultrasonography …
View article: Diagnostic performance of axial T2-weighted MRI sequence for exclusion of brain tumour in paediatric patients with non-localizing symptoms
Diagnostic performance of axial T2-weighted MRI sequence for exclusion of brain tumour in paediatric patients with non-localizing symptoms Open
Objective To establish diagnostic performance of a single axial T2-weighted sequence for detection of brain tumours in children with non-localizing symptoms, compared to a standard MRI protocol. Methods Retrospective analysis of children u…
View article: Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort
Genetic Diagnosis of Retinoblastoma Using Aqueous Humour—Findings from an Extended Cohort Open
The identification of somatic RB1 variation is crucial to confirm the heritability of retinoblastoma. We and others have previously shown that, when tumour DNA is unavailable, cell-free DNA (cfDNA) derived from aqueous humour (AH) can be u…
View article: Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families
Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families Open
Background Cell-free fetal DNA exists within the maternal bloodstream during pregnancy and provides a means for noninvasive prenatal diagnosis (NIPD). Our accredited clinical service offers definitive NIPD for several autosomal recessive (…
View article: The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma
The Impact of Cell-Free DNA Analysis on the Management of Retinoblastoma Open
Retinoblastoma is a childhood eye cancer, mainly caused by mutations in the RB1 gene, which can be somatic or constitutional. Unlike many other cancers, tumour biopsies are not performed due to the risk of tumour dissemination. As a result…
View article: Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies Open
Retinoblastoma, the most common childhood eye cancer, presents in two forms: heritable or sporadic. Heritable retinoblastoma is caused by a germline mutation in the RB1 gene. Early diagnosis of children at risk of inheriting an RB1 mutatio…
View article: Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing
Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing Open
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
View article: Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour Open
Retinoblastoma is the most common eye malignancy in childhood caused by mutations in the RB1 gene. Both alleles of the RB1 gene must be mutated for tumour development. The initial RB1 mutation may be constitutional germline or somatic (ori…
View article: Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing
Meta-analysis of genetic association with diagnosed Alzheimer’s disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing Open
Introduction Late-onset Alzheimer’s disease (LOAD, onset age > 60 years) is the most prevalent dementia in the elderly 1 , and risk is partially driven by genetics 2 . Many of the loci responsible for this genetic risk were identified by g…
View article: MOESM1 of Decreasing the expression of PICALM reduces endocytosis and the activity of β-secretase: implications for Alzheimer’s disease
MOESM1 of Decreasing the expression of PICALM reduces endocytosis and the activity of β-secretase: implications for Alzheimer’s disease Open
Additional file 1. These data were used to produce the graphs shown in Figures 1, 3, 4, 5, 6, 7, 8 and 9.