Publications by authors named "Guylaine DʹAmours"
Article Synopsis
- Genetic testing demand is rising, leading to long waitlists and pressure on traditional genetic healthcare, highlighting the need for alternative solutions like e-health tools.* -
- This study evaluates the Genetics Navigator, a digital platform designed to enhance genetic testing support by integrating with usual care provided by clinicians in both adult and pediatric contexts.* -
- The effectiveness will be assessed through a randomized controlled trial measuring various outcomes, including participant distress, knowledge, and satisfaction, while considering cost-effectiveness compared to standard care.*
Neonatal progeroid syndrome, also known as Wiedemann-Rautenstrauch syndrome, is a rare condition characterized by severe growth retardation, apparent macrocephaly with prominent scalp veins, and lipodystrophy. It is caused by biallelic variants in POLR3A, a gene encoding for a subunit of RNA polymerase III. All variants reported in the literature lead to at least a partial loss-of-function (when considering both alleles together).
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- Deletions on chromosome 15q14 can cause cleft palate and are often linked with intellectual disabilities, facial abnormalities, and heart defects, with MEIS2 gene haploinsufficiency being a potential reason for these issues.
- Researchers studied 23 new patients, gathering data on 9 with MEIS2 sequence variants and 14 with microdeletions, primarily using whole-exome sequencing.
- Patients displayed not only cleft palate and heart issues but also specific facial features, and those with larger deletions showed more severe intellectual disabilities, suggesting a different genetic factor affecting development near MEIS2.
Background: Molecular karyotyping is now the first-tier genetic test for patients affected with unexplained intellectual disability (ID) and/or multiple congenital anomalies (MCA), since it identifies a pathogenic copy number variation (CNV) in 10-14% of them. High-resolution microarrays combining molecular karyotyping and single nucleotide polymorphism (SNP) genotyping were recently introduced to the market. In addition to identifying CNVs, these platforms detect loss of heterozygosity (LOH), which can indicate the presence of a homozygous mutation or uniparental disomy.
View Article and Find Full Text PDFLeft-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants are largely unidentified.
View Article and Find Full Text PDFMuch research has implicated the striatum in motor learning, but the underlying mechanism is still under extensive investigation. In this study, genome-wide analysis of gene expression was conducted in mice that have learned a complex motor task. It is well recognized that successful learning requires repetitive training and is learned slowly over several training sessions.
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