X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth

(2014) Claire C. Homan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Intragenic rearrangements in X-linked intellectual deficiency: Results of a-CGH in a series of 54 patients and identification ofTRPC5andKLHL15as potential XLID genes

(2014) Cécile Mignon-Ravix et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Absent CNKSR2 causes seizures and intellectual, attention, and language deficits

(2014) Andrea K. Vaags et al.   ANNALS OF NEUROLOGY

The CNK2 Scaffold Interacts with Vilse and Modulates Rac Cycling during Spine Morphogenesis in Hippocampal Neurons

(2014) Junghwa Lim et al.   CURRENT BIOLOGY

Mutation in the X-linked RAB40AL gene (Martin-Probst syndrome) with mental retardation, sensorineural hearing loss, and anomalies of the craniofacies and genitourinary tract: a second case report

(2014) James Lee et al.   EUROPEAN JOURNAL OF PEDIATRICS

Variants inCUL4Bare Associated with Cerebral Malformations

(2014) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

Integrated Sequence Analysis Pipeline Provides One-Stop Solution for Identifying Disease-Causing Mutations

(2014) Hao Hu et al.   HUMAN MUTATION

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

(2014) Martin Kircher et al.   NATURE GENETICS

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

(2014) R. J. Butterfield et al.   NEUROLOGY

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

(2014) Anju K Philips et al.   Orphanet Journal of Rare Diseases

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

(2013) Hiromi Hirata et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus

(2013) Pierre Cacciagli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MED12 Cause X-Linked Ohdo Syndrome

(2013) Anneke T. Vulto-van Silfhout et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

(2013) Amélie Piton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and neurocognitive characterization of a family with a novelMED12gene frameshift mutation

(2013) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the clinical phenotype of patients with aZDHHC9mutation

(2013) Alice Masurel-Paulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation

(2013) Susan J. Hayflick et al.   BRAIN

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

(2013) Amélie Piton et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

(2013) Joke Vandewalle et al.   HUMAN GENETICS

Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth

(2013) Lionel Van Maldergem et al.   HUMAN MOLECULAR GENETICS

Targeted Deep Resequencing IdentifiesMID2Mutation for X-Linked Intellectual Disability with Varied Disease Severity in a Large Kindred from India

(2013) Thenral S. Geetha et al.   HUMAN MUTATION

CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling

(2013) Petro Starokadomskyy et al.   JOURNAL OF CLINICAL INVESTIGATION

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

(2013) Christel Depienne et al.   LANCET NEUROLOGY

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

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

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

(2013) Elaine T. Lim et al.   NEURON

Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2

(2013) Shlomit Hellman-Aharony et al.   PEDIATRIC NEUROLOGY

Screening of NLGN3 and NLGN4X genes in Thai children with autism spectrum disorder

(2013) Anna Mikhailov et al.   PSYCHIATRIC GENETICS

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

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

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detecting genomic indel variants with exact breakpoints in single- and paired-end sequencing data using SplazerS

(2012) Anne-Katrin Emde et al.   BIOINFORMATICS

Preso regulation of dendritic outgrowth through PI(4,5)P2-dependent PDZ interaction with βPix

(2012) Jiwon Mo et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Selective Proteasomal Degradation of the B′β Subunit of Protein Phosphatase 2A by the E3 Ubiquitin Ligase Adaptor Kelch-like 15

(2012) Elizabeth A. Oberg et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disruption of RAB40AL function leads to Martin–Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder

(2012) Jirair Krikor Bedoyan et al.   JOURNAL OF MEDICAL GENETICS

X-exome sequencing identifies aHDAC8variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

(2012) Magdalena Harakalova et al.   JOURNAL OF MEDICAL GENETICS

Five Friends of Methylated Chromatin Target of Protein-Arginine-Methyltransferase[Prmt]-1 (Chtop), a Complex Linking Arginine Methylation to Desumoylation

(2012) Pavlos Fanis et al.   MOLECULAR & CELLULAR PROTEOMICS

ENCODE explained

(2012) Joseph R. Ecker et al.   NATURE

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

(2012) Matthew A. Deardorff et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

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

(2012) Stephan J. Sanders et al.   NATURE

Culturing pyramidal neurons from the early postnatal mouse hippocampus and cortex

(2012) Gerard M J Beaudoin et al.   Nature Protocols

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel GDI1 mutation in a large family with nonsyndromic X-linked intellectual disability

(2011) Gertrud Strobl-Wildemann et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

X inactivation testing for identifying a non-syndromic X-linked mental retardation gene

(2011) Hagith Yonath et al.   JOURNAL OF APPLIED GENETICS

LAS1L interacts with the mammalian Rix1 complex to regulate ribosome biogenesis

(2011) Christopher D. Castle et al.   MOLECULAR BIOLOGY OF THE CELL

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability

(2011) I Voineagu et al.   MOLECULAR PSYCHIATRY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

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

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

Initiation factor eIF2γ promotes eIF2–GTP–Met-tRNAiMet ternary complex binding to the 40S ribosome

(2011) Byung-Sik Shin et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Cyclin-dependent kinase 5-dependent phosphorylation of Pctaire1 regulates dendrite development

(2011) W.-Y. Fu et al.   NEUROSCIENCE

Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

(2010) Annabel C. Whibley et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

(2010) Maila Giannandrea et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

Two Cyclin-Dependent Kinase Pathways Are Essential for Polarized Trafficking of Presynaptic Components

(2010) Chan-Yen Ou et al.   CELL

Myocardin-related transcription factors regulate the Cdk5/Pctaire1 kinase cascade to control neurite outgrowth, neuronal migration and brain development

(2010) M. H. Mokalled et al.   DEVELOPMENT

ATP is required for interactions between UAP56 and two conserved mRNA export proteins, Aly and CIP29, to assemble the TREX complex

(2010) K. Dufu et al.   GENES & DEVELOPMENT

Role of ClC-5 in Renal Endocytosis Is Unique among ClC Exchangers and Does Not Require PY-motif-dependent Ubiquitylation

(2010) Gesa Rickheit et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sorting Motifs of the Endosomal/Lysosomal CLC Chloride Transporters

(2010) Tobias Stauber et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel deletion at Xq24 including the UBE2A gene in a patient with X-linked mental retardation

(2010) Shozo Honda et al.   JOURNAL OF HUMAN GENETICS

Distinct Transcriptomes Define Rostral and Caudal Serotonin Neurons

(2010) C. J. Wylie et al.   JOURNAL OF NEUROSCIENCE

Las1L Is a Nucleolar Protein Required for Cell Proliferation and Ribosome Biogenesis

(2010) C. D. Castle et al.   MOLECULAR AND CELLULAR BIOLOGY

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability

(2010) Cheryl Shoubridge et al.   NATURE GENETICS

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

(2010) Yingrui Li et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Disruption of the epigenetic code: An emerging mechanism in mental retardation

(2010) Hans van Bokhoven et al.   NEUROBIOLOGY OF DISEASE

Structure of a Eukaryotic CLC Transporter Defines an Intermediate State in the Transport Cycle

(2010) Liang Feng et al.   SCIENCE

SOAP2: an improved ultrafast tool for short read alignment

(2009) R. Li et al.   BIOINFORMATICS

Defining the Human Deubiquitinating Enzyme Interaction Landscape

(2009) Mathew E. Sowa et al.   CELL

The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors

(2009) N. Nadif Kasri et al.   GENES & DEVELOPMENT

RazerS--fast read mapping with sensitivity control

(2009) D. Weese et al.   GENOME RESEARCH

Analysis of the human E2 ubiquitin conjugating enzyme protein interaction network

(2009) G. Markson et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

Preso, A Novel PSD-95-Interacting FERM and PDZ Domain Protein That Regulates Dendritic Spine Morphogenesis

(2009) H. W. Lee et al.   JOURNAL OF NEUROSCIENCE

Direct Binding of CoREST1 to SUMO-2/3 Contributes to Gene-Specific Repression by the LSD1/CoREST1/HDAC Complex

(2009) Jian Ouyang et al.   MOLECULAR CELL

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

(2008) Gregor D. Gilfillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SKAR Links Pre-mRNA Splicing to mTOR/S6K1-Mediated Enhanced Translation Efficiency of Spliced mRNAs

(2008) Xiaoju Max Ma et al.   CELL

Mapping short DNA sequencing reads and calling variants using mapping quality scores

(2008) H. Li et al.   GENOME RESEARCH

A TFTC/STAGA Module Mediates Histone H2A and H2B Deubiquitination, Coactivates Nuclear Receptors, and Counteracts Heterochromatin Silencing

(2008) Yue Zhao et al.   MOLECULAR CELL

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS