Publications by authors named "Maggie Siewyan Brett"
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Synopsis of recent research by authors named "Maggie Siewyan Brett"
- Maggie Siewyan Brett's research primarily focuses on genetic mutations associated with ciliopathies and cardiovascular conditions, specifically exploring the genetic basis of disorders like Oral-Facial-Digital Syndrome type VI and Left Ventricular Non-Compaction.
- In her 2018 study, she identified novel mutations in the CPLANE1 gene linked to Oral-Facial-Digital Syndrome type VI and proposed revised diagnostic criteria based on clinical manifestations observed in patients.
- Her earlier work in 2015 highlighted the heterogeneous genetic etiology of Left Ventricular Non-Compaction, emphasizing its prevalence and the necessity for further genetic investigations within affected pediatric populations.
