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Article
Open AccessDeficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency
Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases, POI is syndromic in association with othe...
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Article
Open AccessIntegrated multi-omics for rapid rare disease diagnosis on a national scale
Critically ill infants and children with rare diseases need equitable access to rapid and accurate diagnosis to direct clinical management. Over 2 years, the Acute Care Genomics program provided whole-genome s...
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Article
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
Mitochondrial disorders are collectively common, genetically heterogeneous disorders in both pediatric and adult populations. They are caused by molecular defects in oxidative phosphorylation, failure of essen...
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Article
Open AccessPublisher Correction: The role of cardiac transcription factor NKX2-5 in regulating the human cardiac miRNAome
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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Article
Open AccessThe role of cardiac transcription factor NKX2-5 in regulating the human cardiac miRNAome
MicroRNAs (miRNAs) are translational regulatory molecules with recognised roles in heart development and disease. Therefore, it is important to define the human miRNA expression profile in cardiac progenitors ...
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Article
Open AccessNKX2-5 regulates human cardiomyogenesis via a HEY2 dependent transcriptional network
Congenital heart defects can be caused by mutations in genes that guide cardiac lineage formation. Here, we show deletion of NKX2-5, a critical component of the cardiac gene regulatory network, in human embryonic...
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Article
Open AccessComprehensive Expression Analysis of microRNAs and mRNAs in Synovial Tissue from a Mouse Model of Early Post-Traumatic Osteoarthritis
To better understand the molecular processes involved in driving osteoarthritis disease progression we characterized expression profiles of microRNAs (miRNA) and mRNAs in synovial tissue from a post-traumatic ...
