Publications by authors named "Kayla J Muirhead"
Exome sequencing (ES) has emerged as an essential tool in the evaluation of neurodevelopmental disorders (NDD) of unknown etiology. Genome sequencing (GS) offers advantages over ES due to improved detection of structural, copy number, repeat number and non-coding variants. However, GS is less commonly utilized due to higher cost and more intense analysis.
View Article and Find Full Text PDFMucins are large, highly glycosylated extracellular matrix proteins that line and protect epithelia of the respiratory, digestive, and urogenital tracts. Previous work has shown that mucins form large, interconnected polymeric networks that mediate their biological functions once secreted. However, how these large matrix molecules are compacted and packaged into much smaller secretory granules within cells prior to secretion is largely unknown.
View Article and Find Full Text PDFArticle Synopsis
- Undiagnosed genetic diseases can create heavy challenges for families and healthcare systems, especially when symptoms are complex.
- A child suspected of having leukodystrophy exhibited various symptoms, including hearing loss and physical abnormalities, leading to genome sequencing which uncovered three genetic diagnoses.
- This case highlights the effectiveness of genome sequencing in identifying multiple genetic variants and underscores the importance of thorough genetic analysis and clinical assessments for better patient care and family support.