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All Outputs (11)

Effect of skin color on optical properties and the implications for medical optical technologies: a review (2024)
Journal Article

Significance: Skin color affects light penetration leading to differences in its absorption and scattering properties. COVID-19 highlighted the importance of understanding of the interaction of light with different skin types, e.g., pulse oximetry (P... Read More about Effect of skin color on optical properties and the implications for medical optical technologies: a review.

Relevance and utility of the in-vivo and ex-vivo optical properties of the skin reported in the literature: a review [Invited] (2023)
Journal Article

Imaging non-invasively into the human body is currently limited by cost (MRI and CT scan), image resolution (ultrasound), exposure to ionising radiation (CT scan and X-ray), and the requirement for exogenous contrast agents (CT scan and PET scan). Op... Read More about Relevance and utility of the in-vivo and ex-vivo optical properties of the skin reported in the literature: a review [Invited].

Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects (2017)
Journal Article

Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of sarcomeric proteins, such as alpha myosin heavy chain, play crucial roles in cardiac development. M... Read More about Tropomyosin 1: multiple roles in the developing heart and in the formation of congenital heart defects.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (2016)
Journal Article

Congenital heart defects (CHDs) have a neonatal incidence of 0.8–1%. Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (~2.7%), suggesting a considerable role for de novo mutations (DNMs) an... Read More about Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations (2012)
Journal Article

Background: Variants of several genes encoding transcription modulators, signal transduction, and structural proteins are known to cause Mendelian congenital heart disease (CHD). NKX2-5 and GATA4 were the first CHD-causing genes identified by linkage... Read More about Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.