Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing December 20, 2020 Amy Clugston Full Article Read more
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review November 11, 2020 Amy Clugston Full Article Read more
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature November 7, 2020 Amy Clugston Full Article Read more
Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder September 12, 2020 Amy Clugston Abstract Read more
Ocular findings of albinism in DYRK1A-related intellectual disability syndrome August 24, 2020 Amy Clugston Abstract Read more
Altered age‐linked regulation of plasma DYRK1A in elderly cognitive complainers (INSIGHT‐preAD study) with high brain amyloid load July 2, 2020 Amy Clugston Full Article Read more
Neurodevelopmental disorder risk gene DYRK1A is required for ciliogenesis and brain size in Xenopus embryos June 22, 2020 Amy Clugston Full Article Read more
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay June 17, 2020 Amy Clugston Full Article Read more
Impact of DYRK1A Haploinsufficiency on Facial Morphology using Three-Dimensional Morphometric Analysis March 30, 2020 Amy Clugston Full Article Read more
Co-occurring medical conditions among individuals with ASD-associated disruptive mutations March 17, 2020 Amy Clugston Abstract Read more
