Daryl A. Scott

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

The paper identifies rare variants in PRKCI as a novel cause of Van der Woude syndrome and other peridermopathy features through clinical and functional analyses.

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

MAJIQ-CLIN improves the detection of Mendelian disease-causing variants from RNA-Seq by addressing splicing aberrations, showing better accuracy and efficiency than existing tools.

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

The paper identifies missense variants in PLS3 causing X-linked congenital diaphragmatic hernia and body wall defects through genetic analysis and functional studies.

The paper identifies novel disease candidate genes in craniofacial development using transcriptomics data and coexpression networks.

The paper shows SOX7 deficiency causes ventricular septal defects by impairing endocardial-to-mesenchymal transition through reduced Wnt4 and Bmp2 expression in developing atrioventricular canals.

This study identifies COPB2 haploinsufficiency as a cause of a coatopathy with osteoporosis and developmental delay, showing disrupted collagen trafficking and potential treatment with ascorbic acid.