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The protein kinase DYRK1A regulates caspase-9-mediated apoptosis during retina development.

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Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID

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DYRK1A and cognition: A lifelong relationship

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

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Chromatin-wide Profiling of DYRK1A Reveals a Role as a Gene-Specific RNA Polymerase II CTD Kinase

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Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism

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Minibrain/Dyrk1a Regulates Food Intake through the Sir2-FOXO-sNPF/NPY Pathway in Drosophila and Mammals

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Excitation/inhibition balance and learning are modified by Dyrk1a gene dosage

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Dysfunction of the corticostriatal pathway in autism spectrum disorders

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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The Parkinson's Disease Genome‐Wide Association Study Locus Browser

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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

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Dyrk1a from gene function in development and physiology to dosage correction across life span in down syndrome

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Gene dosage imbalances: action, reaction, and models

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Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models

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Riquiqui and Minibrain are regulators of the Hippo pathway downstream of Dachsous

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Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

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What we can learn from a genetic rodent model about autism

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Overexpression ofDyrk1A, a Down Syndrome Candidate, Decreases Excitability and Impairs Gamma Oscillations in the Prefrontal Cortex

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DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

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Possible functional links among brain- and skull-related genes selected in modern humans

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Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome

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Intellectual disability and autism spectrum disorders ‘on the fly’: insights from Drosophila

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Syndromic Autism Revisited: Review of the Literature and Lessons Learned

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A Requirement for Mena, an Actin Regulator, in Local mRNA Translation in Developing Neurons

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Bridging the Gap between Genes and Language Deficits in Schizophrenia: An Oscillopathic Approach

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DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson’s disease

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The Social Brain Network and Autism

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Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

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Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome

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Dyrk1a Mutations Cause Undergrowth of Cortical Pyramidal Neurons via Dysregulated Growth Factor Signaling

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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

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Effect of DYRK1A activity inhibition on development of neuronal progenitors isolated from Ts65Dn mice

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Emerging Roles of DYRK Kinases in Embryogenesis and Hedgehog Pathway Control

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Global kinome profiling reveals DYRK1A as critical activator of the human mitochondrial import machinery

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DYRK1A mutations in two unrelated patients

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New Perspectives for the Rescue of Cognitive Disability in Down Syndrome

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Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism

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Structural analysis of pathogenic mutations in theDYRK1Agene in patients with developmental disorders

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Whole genome sequencing of 45 Japanese patients with intellectual disability

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Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

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Distinct selective forces and Neanderthal introgression shaped genetic diversity at genes involved in neurodevelopmental disorders

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Gene Dosage-Dependent Association of DYRK1A With the Cytoskeleton in the Brain and Lymphocytes of Down Syndrome Patients

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Minibrain drives the Dacapo dependent cell cycle exit of neurons in the Drosophila brain by promoting asense and prospero expression

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Cerebellar alterations in a model of Down syndrome: The role of the Dyrk1A gene

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DYRK1A signalling synchronizes the mitochondrial import pathways for metabolic rewiring

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Ocular Phenotype Associated with DYRK1A Variants

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Bone Tissue and the Nervous System: What Do They Have in Common?

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DCAF7/WDR68 is required for normal levels of DYRK1A and DYRK1B

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Osteogenesis and neurogenesis: a robust link also for language evolution

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Neurocognitive and neurobehavioral characterization of two frequent forms of neurodevelopmental disorders: the DYRK1A and the Wiedemann–Steiner syndromes

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The molecular genetics of PI3K/PTEN/AKT/mTOR pathway in the malformations of cortical development

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A novel binding protein of single-minded 2: the mitotic arrest-deficient protein MAD2B

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Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability

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Drosophila Dyrk2 Plays a Role in the Development of the Visual System

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Correction: Minibrain/Dyrk1a Regulates Food Intake through the Sir2-FOXO-sNPF/NPY Pathway in Drosophila and Mammals

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Characterizing the autism spectrum phenotype in DYRK1A ‐related syndrome

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Precision Revisited: Targeting Microcephaly Kinases in Brain Tumors

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Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome

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Autism Spectrum Disorders

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DYRK1A Is a Regulator of S-Phase Entry in Hepatic Progenitor Cells

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Abnormalities of DYRK1A-Cytoskeleton Complexes in the Blood Cells as Potential Biomarkers of Alzheimer’s Disease

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Disease Modeling of Rare Neurological Disorders in Zebrafish

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Risk of Alzheimer's disease in Down syndrome: Insights gained by multi‐omics

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A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization

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One-carbon cycle alterations induced by Dyrk1a dosage

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Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing

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DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition

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The Genetics of Brain Malformations

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Cerebral organoid proteomics reveals signatures of dysregulated cortical development associated with human trisomy 21Preprint

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PhenoScore: AI-based phenomics to quantify rare disease and genetic variationPreprint

Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L. C. M. J., van Reeuwijk, J., de Leeuw, N., Schuurs-Hoeijmakers, J. H. M., Pfundt, R., Diets, I. J., den Hoed, J., et al. (2022) · medRxiv · doi:10.1101/2022.10.24.22281480 · Cited by 6

Identification of two novel and one rare mutation in DYRK1A and prenatal diagnoses in three Chinese families with intellectual Disability-7

Huang, C., Luo, H., Zeng, B., Feng, C., Chen, J., Yuan, H., Huang, S., Yang, B., Zou, Y., & Liu, Y. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1290949 · Cited by 5

Association of the Single Nucleotide Polymorphisms in RUNX1, DYRK1A, and KCNJ15 with Blood Related Traits in Pigs

Lee, J.-B., Yoo, C.-K., Park, H.-B., Cho, I., & Lim, H. (2016) · Asian-Australasian Journal of Animal Sciences · doi:10.5713/ajas.16.0348 · Cited by 5

Language Impairment with a Partial Duplication of DOCK8

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Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7

Zhou, C., Zhu, H., Xiang, Q., Mai, J., Wang, X., Wang, J., & Liu, S. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1174925 · Cited by 4

Mnb/Dyrk1Aorchestrates a transcriptional network at the transition from self-renewing neurogenic progenitors to postmitotic neuronal precursors

Nurunnabi, S. M., & Tejedor, F. J. (2018) · Journal of Neurogenetics · doi:10.1080/01677063.2018.1438427 · Cited by 4

Delving into the Genetic Causes of Language Impairment in a Case of Partial Deletion of NRXN1

Benítez‐Burraco, A., Jiménez-Romero, M. S., & Fernández-Urquiza, M. (2022) · Molecular Syndromology · doi:10.1159/000524710 · Cited by 4

A Munc18-1 mutant mimicking phosphorylation by Down Syndrome-related kinase Dyrk1a supports normal synaptic transmission and promotes recovery after intense activity

Classen, J., Saarloos, I., Meijer, M., Sullivan, P. F., & Verhage, M. (2020) · Scientific Reports · doi:10.1038/s41598-020-59757-y · Cited by 3

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis

Hinckelmann, M.-V., Dubos, A., Artot, V., Rudolf, G., Nguyen, T. L., Tilly, P., Nalesso, V., Moreno, M. D. M. M., Birling, M., Godin, J. D., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-03109-7 · Cited by 4

Partial monosomy of chromosome 21 and congenital malformations monosomy of chromosome 21 and malformations

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Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis via actomyosin dynamics deregulationsPreprint

Hinckelmann, M.-V., Dubos, A., Artot, V., Rudolf, G., Nguyen, T. L., Tilly, P., Nalesso, V., Moreno, M. D. M. M., Birling, M., Godin, J. D., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.09.566424 · Cited by 2

Engine breakdown of lysosomes and related organelles and the resulting physiology

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Transcriptional Biomarkers in the Diagnosis of Genetic Disorders: Opportunities, Challenges, and Prospects for Application

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Growth charts in DYRK1A syndrome

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Regulation of Drosophila brain development and organ growth by the Minibrain/Rala signaling network

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Dyrk1a inhibition with the Novel Compound DYR533: A Cross-Disease Therapeutic Strategy Targeting Amyloidosis, Tau Pathogenesis, and NeuroinflammationPreprint

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Casein kinase 2 controls synapse organization and stability

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The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

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Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

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