Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

(2018) Takuya Hiraide et al.   HUMAN GENETICS

CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy

(2017) Karine Poirier et al.   HUMAN MUTATION

Truncating mutation in CSNK2B and myoclonic epilepsy

(2017) Yuri Sakaguchi et al.   HUMAN MUTATION

A novel de novo mutation in CSNK2A1: reinforcing the link to neurodevelopmental abnormalities and dysmorphic features

(2017) Joanne Trinh et al.   JOURNAL OF HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

(2016) Volkan Okur et al.   HUMAN GENETICS

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures

(2016) Ryoko Fukai et al.   JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

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

Protein Kinase CK2 Interacts at the Neuromuscular Synapse with Rapsyn, Rac1, 14-3-3γ, and Dok-7 Proteins and Phosphorylates the Latter Two

(2015) Dustin Herrmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

New classification for neurodevelopmental disorders in DSM-5

(2014) James C. Harris   CURRENT OPINION IN PSYCHIATRY

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

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

(2014) Martin Kircher et al.   NATURE GENETICS

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

(2014) S. E. Soden et al.   Science Translational Medicine

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

(2013) Hirotomo Saitsu et al.   NATURE GENETICS

Preterm birth–associated neurodevelopmental impairment estimates at regional and global levels for 2010

(2013) Hannah Blencowe et al.   PEDIATRIC RESEARCH

Diagnostic status, functional status and complexity among Canadian children with neurodevelopmental disorders and disabilities: a population-based study

(2012) Anton R. Miller et al.   DISABILITY AND REHABILITATION

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

CK2α is essential for embryonic morphogenesis

(2011) Isabel Dominguez et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

ATAD2B is a phylogenetically conserved nuclear protein expressed during neuronal differentiation and tumorigenesis

(2010) Nathaniel T. Leachman et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Protein Kinase CK2 in Health and Disease

(2009) N. A. St-Denis et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Protein Kinase CK2 in Health and Disease

(2009) J. H. Trembley et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

First Inactive Conformation of CK2α, the Catalytic Subunit of Protein Kinase CK2

(2009) Jennifer Raaf et al.   JOURNAL OF MOLECULAR BIOLOGY

Drosophila protein kinase CK2 is rendered temperature-sensitive by mutations of highly conserved residues flanking the activation segment

(2008) Pallavi P. Kuntamalla et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Too much of a good thing: The role of protein kinase CK2 in tumorigenesis and prospects for therapeutic inhibition of CK2

(2007) James S. Duncan et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS