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

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development

(2014) Raphael Bernier et al.   CELL

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

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

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

(2014) Céline Helsmoortel et al.   NATURE GENETICS

A comprehensive survey of non-canonical splice sites in the human transcriptome

(2014) Guillermo E. Parada et al.   NUCLEIC ACIDS RESEARCH

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

(2014) Maggie Brett et al.   PLoS One

New Perspectives of Dyrk1A Role in Neurogenesis and Neuropathologic Features of Down Syndrome

(2014) Joongkyu Park et al.   Experimental Neurobiology

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

(2013) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The genetic landscape of autism spectrum disorders

(2013) Rasim O Rosti et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

(2013) Ariadna Laguna et al.   HUMAN MOLECULAR GENETICS

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

Autism

(2013) Meng-Chuan Lai et al.   LANCET

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Dyrk1A Is Dynamically Expressed on Subsets of Motor Neurons and in the Neuromuscular Junction: Possible Role in Down Syndrome

(2013) Gloria Arque et al.   PLoS One

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

(2013) Nathan Luebbering et al.   PLoS One

Structures of Down Syndrome Kinases, DYRKs, Reveal Mechanisms of Kinase Activation and Substrate Recognition

(2013) Meera Soundararajan et al.   STRUCTURE

Haploinsufficiency of ARID1B , a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

(2012) Juliane Hoyer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

DYRK1A and Glycogen Synthase Kinase 3 , a Dual-Kinase Mechanism Directing Proteasomal Degradation of CRY2 for Circadian Timekeeping

(2010) N. Kurabayashi et al.   MOLECULAR AND CELLULAR BIOLOGY

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

Age-associated motor and visuo-spatial learning phenotype in Dyrk1A heterozygous mutant mice

(2009) Glòria Arqué et al.   NEUROBIOLOGY OF DISEASE

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 Protein Kinase DYRK1A Regulates Caspase-9-Mediated Apoptosis during Retina Development

(2008) Ariadna Laguna et al.   DEVELOPMENTAL CELL