Lia Boyle

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

Lia Boyle, Lu Rao, Simranpreet Kaur et al. · Human Genetics and Genomics Advances · 2021 · 84 citations · Full text

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons et al. · The American Journal of Human Genetics · 2016 · 60 citations · Full text

Down Syndrome, Developmental Anomaly, Developmental Biology +10

Autism and anxiety in males with fragile X syndrome: An exploratory analysis of neurobehavioral profiles from a parent survey

Victor B. Talisa, Lia Boyle, Daina Crafa et al. · American Journal of Medical Genetics Part A · 2014 · 49 citations

Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A ( <i>KIF1A</i> )

Simranpreet Kaur, Nicole J. Van Bergen, Kristen J. Verhey et al. · Human Mutation · 2020 · 33 citations · Full text

Motor Domain, Kif1a Motor Domain, Mendelian Disorder +15

Detailed Clinical and Psychological Phenotype of the X-linked <i>HNRNPH2</i> -Related Neurodevelopmental Disorder

Jennifer Bain, Olivia Thornburg, Cheryl Pan et al. · Neurology Genetics · 2021 · 31 citations · Full text