Publications by authors named "T J FitzGerald"
Purpose: Structural variants such as multiexon deletions and duplications are an important cause of disease but are often overlooked in standard exome/genome sequencing analysis. We aimed to evaluate the detection of copy-number variants (CNVs) from exome sequencing (ES) in comparison with genome-wide low-resolution and exon-resolution chromosomal microarrays (CMAs) and to characterize the properties of de novo CNVs in a large clinical cohort.
Methods: We performed CNV detection using ES of 9859 parent-offspring trios in the Deciphering Developmental Disorders (DDD) study and compared them with CNVs detected from exon-resolution array comparative genomic hybridization in 5197 probands from the DDD study.
Motivation: Genome-wide association studies (GWAS) have been remarkably successful in identifying associations between genetic variants and imaging-derived phenotypes. To date, the main focus of these analyses has been on established, clinically-used imaging features. We sought to investigate if deep learning approaches can detect more nuanced patterns of image variability.
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- - Psoriatic arthritis (PsA) is a long-term inflammatory disease that requires ongoing treatment, with options like guselkumab and IL-17A inhibitors (ixekizumab, secukinumab) approved for use in adults by the FDA.
- - A retrospective analysis studied adults with PsA who started treatment with either guselkumab or IL-17A inhibitors, assessing how long they continued their therapy based on insurance claims data from July 2020 to June 2022.
- - Results showed that patients on guselkumab were significantly more likely to stick with their treatment for at least a year compared to those on IL-17A inhibitors, with longer median persistence and lower discontinuation rates for the gus
Purpose: For patients with hepatocellular carcinoma (HCC), stereotactic body radiation therapy (SBRT) has emerged as a locoregional treatment. Our purpose was to report outcomes in patients with HCC with Child-Pugh A (CP A) versus Child-Pugh B or C (CP B/C) liver dysfunction treated with SBRT.
Methods And Materials: A retrospective analysis of 80 patients with HCC, with a total of 94 tumors treated with SBRT, was conducted at a single institution.
Importance: Although children born moderate to late preterm (MLP; 32-36 weeks' gestation) have more neurodevelopmental problems compared with children born early term or later (≥37 weeks' gestation), detailed understanding of affected domains at school age is lacking. Little is known of risk factors for poorer development.
Objective: To examine whether being born MLP compared with being born early term or later is associated with neurodevelopmental outcomes at age 9 years and to describe factors associated with poorer neurodevelopment in children born MLP.