Publication Rapid Diagnosis of Spinocerebellar Ataxia 36 in a three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Publication Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.
Publication Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Publication Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Publication The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments.
Publication The effectiveness, feasibility and scalability of the school platform in adolescent mental healthcare.
Publication Sleep problems increase the risk of musculoskeletal pain in boys but not girls: a prospective cohort study.
