De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems

(2014) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability

(2014) Detelina Grozeva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism

(2014) Henry J. Mroczkowski et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

De Novo Mutations in Moderate or Severe Intellectual Disability

(2014) Fadi F. Hamdan et al.   PLoS Genetics

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

Mutations in the Intellectual Disability Gene Ube2a Cause Neuronal Dysfunction and Impair Parkin-Dependent Mitophagy

(2013) Dominik M. Haddad et al.   MOLECULAR CELL

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

(2013) Guillermo Luxán et al.   NATURE MEDICINE

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

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

(2012) Nana Okamoto et al.   JOURNAL OF HUMAN GENETICS

Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects

(2012) Marjolein H Willemsen et al.   JOURNAL OF MEDICAL GENETICS

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

(2011) Christian Wentzel et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

WAC, a Functional Partner of RNF20/40, Regulates Histone H2B Ubiquitination and Gene Transcription

(2011) Feng Zhang et al.   MOLECULAR CELL

Epigenetic Regulation of Learning and Memory by Drosophila EHMT/G9a

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

The developmental transcriptome of Drosophila melanogaster

(2010) Brenton R. Graveley et al.   NATURE

Smith–Magenis syndrome

(2008) Sarah H Elsea et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Neurobiology of a Simple Memory

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