Publications by authors named "D B Everman"
Article Synopsis
- The American Medical Informatics Association's Genomics and Translational Biomedical Informatics Workgroup is assessing how AI can be applied in genomics for better health outcomes.
- The assessment involved discussions among workgroup members and reviews of relevant literature to reach consensus on key factors influencing AI's clinical application in genomics.
- Important conclusions highlight the need for extensive informatics research, larger datasets, the avoidance of exacerbating disparities, standardized genomic data, and collaborative interfaces between AI technologies and clinicians for improved decision-making.
Chromosome 2p (chr2p) duplication, also known as trisomy 2p, is a rare chromosome abnormality associated with developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most of the reported cases involving trisomy 2p include additional copy number variants (CNVs) in other regions of the genome and are usually small in size. Little is known about the clinical outcomes of large duplications of chr2p as the sole cytogenetic abnormality.
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- De novo variants contribute significantly to neurodevelopmental disorders (NDDs), but due to their rarity, understanding the full range of symptoms and genetic variations linked to specific genes like KDM6B poses a challenge.
- The study of 85 individuals with KDM6B variants reveals that cognitive deficits are common, while features like coarse facies and skeletal issues are rare, indicating that existing descriptions may be misleading.
- Through innovative testing methods and studies on Drosophila, the researchers highlight the critical role of KDM6B in cognitive function and the importance of international collaboration for accurate diagnosis of rare disorders.
Split hand/foot malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many individuals, the genetic etiology is unknown. Through whole-exome and targeted sequencing, we detected three novel variants in a gene encoding a transcription factor, PRDM1, that arose de novo in families with SHFM or segregated with the phenotype.
View Article and Find Full Text PDFMosaic variants in the PIK3CA gene, encoding the catalytic subunit of phosphoinositide 3-kinase (PI3K), produce constitutive PI3K activation, which causes PIK3CA-related overgrowth spectrum disorders. To date, fewer than 20 patients have been described with germline alterations in PIK3CA. In this study, we describe three unrelated individuals with overgrowth and germline PIK3CA variants.
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