Publications by authors named "Lia Boyle"

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Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Nicola de Prisco, Caitlin Ford, Nathan D Elrod, Winston Lee, Lauren C Tang, Lia Boyle

Sci Adv· February 2023

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Genotype and defects in microtubule-based motility correlate with clinical severity in -associated neurological disorder.
Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane

HGG Adv· April 2021

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Detailed Clinical and Psychological Phenotype of the X-linked -Related Neurodevelopmental Disorder.
Jennifer M Bain, Olivia Thornburg, Cheryl Pan, Donnielle Rome-Martin, Lia Boyle

Neurol Genet· February 2021

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Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A).
Simranpreet Kaur, Nicole J Van Bergen, Kristen J Verhey, Cameron J Nowell, Breane Budaitis, Lia Boyle

Hum Mutat· October 2020

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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, Birthe Roos, Ana Pop

Am J Hum Genet· June 2016

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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, Walter E Kaufmann

Am J Med Genet A· May 2014

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The behavioral phenotype of FMR1 mutations.
Lia Boyle, Walter E Kaufmann

Am J Med Genet C Semin Med Genet· November 2010

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