Publications by authors named "R Tyler Miller"
WHIM syndrome is typically caused by C-terminal gain-of-function variants in , yet clinical heterogeneity suggests additional genetic modifiers. We investigated a family in which the 22-year-old proband harbored two heterozygous variants: a novel missense variant, c.1022C>A (p.
View Article and Find Full Text PDFBackground: Signet Ring Cell Adenocarcinoma (SRCA) of the appendix is a rare tumor with a poor prognosis and limited information to help guide treatment.
Methods: We reviewed patients diagnosed with SRCA between 1998 and 2024 at all Mayo Clinic sites.
Results: Among 84 patients, the most common presentation was non-specific abdominal pain (31 %).
Objective: Chronic synovitis is associated with osteoarthritis (OA) pain, but the molecular underpinnings remain unclear. Our objective was to characterize the transcriptional phenotype of OA synovium with a focus on signaling relevant to pain.
Design: Eight publicly-available microarray and RNA-sequencing GEO datasets from human non-OA and OA subjects underwent quality control and re-analysis for differentially-expressed genes (DEGs).
Background: Elevated prevalence of coexisting health conditions has been observed in autistic people, yet how the timing of their initial diagnoses varies by sex and age of autism diagnosis remains understudied. Using a person-centered approach, we examined the patterns of initial diagnosis for mental health and neurodevelopmental conditions among autistic children and youth identified from the general population.
Methods: The sample was drawn from the 2019 Canadian Health Survey on Children and Youth (CHSCY) cohort (N = 47,781), consisting of 776 5-17-year-olds (82% assigned-male-at-birth) with a caregiver-reported diagnosis of autism.