Vernon Reid Sutton

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.

The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

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.

Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement

The paper evaluates the construct validity of PROMIS instruments in osteogenesis imperfecta (OI) and explores using a registry to recruit participants for health status surveys.

Dental and facial characteristics of osteogenesis imperfecta type V

This study describes the dental and craniofacial characteristics of OI type V, finding missing permanent teeth but not dentinogenesis imperfecta, and a distinct craniofacial phenotype compared to other OI types.