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
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
Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome July 1, 2019 Amy Clugston Read Full Read more
Vascular defects of DYRK1A knockouts are ameliorated by modulating calcium signaling in zebrafish May 23, 2019 Amy Clugston Read Full Read more
The nuclear interactome of DYRK1A reveals a functional role in DNA damage repair April 25, 2019 Amy Clugston Read Full Read more
A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response April 12, 2019 Amy Clugston Read Full Read more
Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism April 15, 2018 Amy Clugston Read Full Read more
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency October 5, 2017 Amy Clugston Read Full Read more
Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism September 29, 2017 Amy Clugston Read Full Read more
Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders January 4, 2017 Amy Clugston Read Full Read more
Association of DYRK1A polymorphisms with sporadic Parkinson’s disease in Chinese Han population October 6, 2016 DYRK1A Read Abstract Read more
The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients. May 16, 2016 DYRK1A Read Abstract 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
Characterizing autism spectrum disorders by key biochemical pathways September 24, 2015 DYRK1A Read Full Read more
Rescue of the abnormal skeletal phenotype in Ts65Dn Down syndrome mice using genetic and therapeutic modulation of trisomic Dyrk1a July 23, 2015 Amy Clugston Full Article Read more
