BOD1 Is Required for Cognitive Function in Humans and Drosophila

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

(2016) Korinna Kochinke et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Putative synaptic genes defined from a Drosophila whole body developmental transcriptome by a machine learning approach

(2015) Flavio Pazos Obregón et al.   BMC GENOMICS

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

(2015) Gunnar Houge et al.   JOURNAL OF CLINICAL INVESTIGATION

Cleavage of E-Cadherin and β-Catenin by Calpain Affects Wnt Signaling and Spheroid Formation in Suspension Cultures of Human Pluripotent Stem Cells

(2014) Sarah A. Konze et al.   MOLECULAR & CELLULAR PROTEOMICS

Network Plasticity in Adaptive Filtering and Behavioral Habituation

(2014) Mani Ramaswami   NEURON

Small organelle, big responsibility: the role of centrosomes in development and disease

(2014) P. L. Chavali et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Somatic deletions implicated in functional diversity of brain cells of individuals with schizophrenia and unaffected controls

(2014) Junho Kim et al.   Scientific Reports

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MLL2 and KDM6A mutations in patients with Kabuki syndrome

(2013) Noriko Miyake et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CEP89 is required for mitochondrial metabolism and neuronal function in man and fly

(2013) Bregje W.M. van Bon et al.   HUMAN MOLECULAR GENETICS

GATAD2Bloss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth inDrosophila

(2013) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Quantitative Dissection and Stoichiometry Determination of the Human SET1/MLL Histone Methyltransferase Complexes

(2013) R. van Nuland et al.   MOLECULAR AND CELLULAR BIOLOGY

Mice with Deficient BK Channel Function Show Impaired Prepulse Inhibition and Spatial Learning, but Normal Working and Spatial Reference Memory

(2013) Marei Typlt et al.   PLoS One

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

Bod1 regulates protein phosphatase 2A at mitotic kinetochores

(2013) Iain M. Porter et al.   Nature Communications

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

(2012) Wendy D. Jones et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

(2012) Lia Abbasi-Moheb et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions

(2011) Hao Hu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability

(2011) Muhammad Arshad Rafiq et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family

(2011) Masoud Garshasbi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Molecular and synaptic defects in intellectual disability syndromes

(2011) Chiara Verpelli et al.   CURRENT OPINION IN NEUROBIOLOGY

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Centrosomes, microtubules and neuronal development

(2011) Marijn Kuijpers et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Formation of stable attachments between kinetochores and microtubules depends on the B56-PP2A phosphatase

(2011) Emily A. Foley et al.   NATURE CELL BIOLOGY

Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

(2011) C. Pak et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a

(2011) Jamie M. Kramer et al.   PLOS BIOLOGY

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

(2010) Andreas Walter Kuss et al.   HUMAN GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation

(2009) Asif Mir et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT

Distinct behaviors of neural stem and progenitor cells underlie cortical neurogenesis

(2008) Stephen C. Noctor et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Neurobiology of a Simple Memory

(2008) Donald A. Wilson et al.   JOURNAL OF NEUROPHYSIOLOGY

Live Imaging at the Onset of Cortical Neurogenesis Reveals Differential Appearance of the Neuronal Phenotype in Apical versus Basal Progenitor Progeny

(2008) Alessio Attardo et al.   PLoS One