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
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
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
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
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract December 21, 2019 Amy Clugston Read Full Read more
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency October 5, 2017 Amy Clugston Read Full Read more
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature February 27, 2016 DYRK1A Read Full Read more
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. May 12, 2015 DYRK1A Read Full Read more
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A April 29, 2015 DYRK1A Read Full Read more
