Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes July 12, 2022 Amy Clugston Abstract Read more
Clinical and genetic analysis of a child with mental retardation autosomal dominant 7 May 10, 2022 Amy Clugston Chinese Artical / Click Enlish Abstract Read more
Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments April 18, 2022 Amy Clugston Abstract Read more
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures March 14, 2022 Amy Clugston Abstract Read more
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder November 10, 2021 Amy Clugston Full Article Read more
Deep learning is widely applicable to phenotyping embryonic development and disease November 5, 2021 Amy Clugston Full Article Read more
Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome September 17, 2021 Amy Clugston Full Article Read more
Global kinome profiling reveals DYRK1A as critical activator of the human mitochondrial import machinery July 13, 2021 Amy Clugston Full Article Read more
Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant July 12, 2021 Amy Clugston Full Article Read more
Sleep Problems in Children with ASD and Gene Disrupting Mutations May 17, 2021 Amy Clugston Abstract Read more
Generation of an induced pluripotent stem cell line from a patient with global development delay carrying DYRK1A mutation (c.1730T>A) and a gene correction isogenic iPSC line May 1, 2021 Amy Clugston Full Article Read more
Dyrk1a Mutations Cause Undergrowth of Cortical Pyramidal Neurons via Dysregulated Growth Factor Signaling April 8, 2021 Amy Clugston Full Article Read more
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder January 26, 2021 Amy Clugston Full Article Read more
Ocular Phenotype Associated with DYRK1A Variants January 20, 2021 Amy Clugston Full Article Read more
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
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
