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

CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects

(2020) Hala Nasser et al.   JOURNAL OF MEDICAL GENETICS

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

(2020) Sanaa Choufani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation

(2020) Nathalie Carion et al.   GENE

A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay

(2020) Kyu-Sun Lee et al.   Scientific Reports

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

(2019) Erfan Aref-Eshghi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

(2019) Eric Chater-Diehl et al.   BMC Medical Genomics

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract

(2019) Alexandria T. M. Blackburn et al.   GENETICS IN MEDICINE

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

(2019) Angélique Quartier et al.   HUMAN MUTATION

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

(2019) Juan Arranz et al.   NEUROBIOLOGY OF DISEASE

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

(2019) Chris Balak et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PROBE: analysis and visualization of protein block-level evolution

(2018) Arnaud Kress et al.   BIOINFORMATICS

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder

(2018) Angélique Quartier et al.   BIOLOGICAL PSYCHIATRY

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

(2018) Esti Wahyu Widowati et al.   Biology Open

DYRK1A interacts with histone acetyl transferase p300 and CBP and localizes to enhancers

(2018) Shanshan Li et al.   NUCLEIC ACIDS RESEARCH

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

(2018) Mattioli Francesca et al.   HUMAN MOLECULAR GENETICS

Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development

(2017) T Dang et al.   MOLECULAR PSYCHIATRY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

(2017) Rachel K. Earl et al.   Molecular Autism

DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome

(2016) Arnaud Duchon et al.   Frontiers in Behavioral Neuroscience

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

(2016) Andrea J. Gonzalez-Mantilla et al.   JAMA Psychiatry

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

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Lucas M Bronicki et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DYRK1A mutations in two unrelated patients

(2015) Lyse Ruaud et al.   European Journal of Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2015) B W M van Bon et al.   MOLECULAR PSYCHIATRY

NSD1 mutations generate a genome-wide DNA methylation signature

(2015) S. Choufani et al.   Nature Communications

DYRK1A phoshorylates histone H3 to differentially regulate the binding of HP1 isoforms and antagonize HP1-mediated transcriptional repression

(2014) S. M. Jang et al.   EMBO REPORTS

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

(2012) Jean-Benoît Courcet et al.   JOURNAL OF MEDICAL GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

MNB/DYRK1A as a multiple regulator of neuronal development

(2010) Francisco J. Tejedor et al.   FEBS Journal

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome

(2009) Aude-Marie Lepagnol-Bestel et al.   HUMAN MOLECULAR GENETICS

Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly

(2008) Rikke S. Møller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development

(2008) Barbara Hämmerle et al.   EUROPEAN JOURNAL OF NEUROSCIENCE