Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

The impact of nonverbal ability on prevalence and clinical presentation of language disorder: evidence from a population study

(2016) Courtenay Frazier Norbury et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

Identification of disruptedAUTS2andEPHA6genes by array painting in a patient carrying a de novo balanced translocation t(3;7) with intellectual disability and neurodevelopment disorder

(2015) Anouck Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

(2015) Angela T. Morgan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Understanding Language from a Genomic Perspective

(2015) Sarah A. Graham et al.   Annual Review of Genetics

Kabuki syndrome: a Chinese case series and systematic review of the spectrum of mutations

(2015) Shuang Liu et al.   BMC Medical Genetics

Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis

(2015) Kevin X. Liu et al.   BRAIN

New Genes for Focal Epilepsies with Speech and Language Disorders

(2015) Samantha J. Turner et al.   Current Neurology and Neuroscience Reports

Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait

(2015) Sanja Franić et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide analysis identifies a role for common copy number variants in specific language impairment

(2015) Nuala H Simpson et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13

(2015) P. D. Evans et al.   GENES BRAIN AND BEHAVIOR

Identification and functional characterization ofde novo FOXP1variants provides novel insights into the etiology of neurodevelopmental disorder

(2015) Elliot Sollis et al.   HUMAN MOLECULAR GENETICS

A unique insertion in STARD9's motor domain regulates its stability

(2015) Silvia Senese et al.   MOLECULAR BIOLOGY OF THE CELL

Exome Sequencing in an Admixed Isolated Population Indicates NFXL1 Variants Confer a Risk for Specific Language Impairment

(2015) Pía Villanueva et al.   PLoS Genetics

De novo single exon deletion ofAUTS2in a patient with speech and language disorder: A review of disruptedAUTS2and further evidence for its role in neurodevelopmental disorders

(2014) Ina E. Amarillo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Analysis ofELP4,SRPX2, and interacting genes in typical and atypical rolandic epilepsy

(2014) Eva M. Reinthaler et al.   EPILEPSIA

Reply to Pembrey et al: ‘ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis’

(2014) Fabiola Ceroni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment

(2014) Fabiola Ceroni et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment

(2014) R. Nudel et al.   GENES BRAIN AND BEHAVIOR

Genome-wide screening for DNA variants associated with reading and language traits

(2014) A. Gialluisi et al.   GENES BRAIN AND BEHAVIOR

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

(2014) Lucia Micale et al.   HUMAN MUTATION

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome

(2014) Chong Kun Cheon et al.   JOURNAL OF HUMAN GENETICS

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Refining analyses of copy number variation identifies specific genes associated with developmental delay

(2014) Bradley P Coe et al.   NATURE GENETICS

Cytoskeletal Regulation by AUTS2 in Neuronal Migration and Neuritogenesis

(2014) Kei Hori et al.   Cell Reports

Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

(2013) Gea Beunders et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero

(2013) Manal Salmi et al.   BRAIN

A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk

(2013) David R. Blair et al.   CELL

Role of the sodium channelSCN9Ain genetic epilepsy with febrile seizures plus and Dravet syndrome

(2013) John C. Mulley et al.   EPILEPSIA

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

DYX1C1 is required for axonemal dynein assembly and ciliary motility

(2013) Aarti Tarkar et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

The Human Language-Associated Gene SRPX2 Regulates Synapse Formation and Vocalization in Mice

(2013) G. M. Sia et al.   SCIENCE

The genetic relationship between handedness and neurodevelopmental disorders

(2013) William M. Brandler et al.   TRENDS IN MOLECULAR MEDICINE

Molecular Networks of DYX1C1 Gene Show Connection to Neuronal Migration Genes and Cytoskeletal Proteins

(2012) Kristiina Tammimies et al.   BIOLOGICAL PSYCHIATRY

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Decoding the genetics of speech and language

(2012) Sarah A Graham et al.   CURRENT OPINION IN NEUROBIOLOGY

Febrile seizures and behavioural and cognitive outcomes in preschool children: the Generation R Study

(2012) ANNEMARIE M VISSER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

(2012) Julien Thevenon et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders

(2012) Sandesh C S Nagamani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment

(2012) Giuseppina Marseglia et al.   European Journal of Medical Genetics

The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders

(2012) Claire Bacon et al.   HUMAN GENETICS

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

(2012)   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

Variation in the NMDA receptor 2B subunit gene GRIN2B is associated with differential language lateralization

(2011) Sebastian Ocklenburg et al.   BEHAVIOURAL BRAIN RESEARCH

A balanced t(10;15) translocation in a male patient with developmental language disorder

(2011) A. Gulhan Ercan-Sencicek et al.   European Journal of Medical Genetics

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

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

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

KEGG for integration and interpretation of large-scale molecular data sets

(2011) M. Kanehisa et al.   NUCLEIC ACIDS RESEARCH

Increased Expression of the Dyslexia Candidate Gene DCDC2 Affects Length and Signaling of Primary Cilia in Neurons

(2011) Satu Massinen et al.   PLoS One

Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration

(2011) Peter L. Oliver et al.   PLoS Genetics

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

(2011) Santhosh Girirajan et al.   PLoS Genetics

Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia

(2010) Alistair T. Pagnamenta et al.   BIOLOGICAL PSYCHIATRY

GENETIC BASIS OF SPECIFIC LANGUAGE IMPAIRMENT: EVIDENCE FROM A TWIN STUDY

(2010) D. V. M. Bishop et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

(2010) Patrice Roll et al.   HUMAN MOLECULAR GENETICS

Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome

(2010) I. Filges et al.   JOURNAL OF MEDICAL GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

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

Recent advances in the genetics of language impairment

(2010) Dianne F Newbury et al.   Genome Medicine

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

CMIP and ATP2C2 Modulate Phonological Short-Term Memory in Language Impairment

(2009) Dianne F. Newbury et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

FOXP2 as a molecular window into speech and language

(2009) Simon E. Fisher et al.   TRENDS IN GENETICS

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

A Functional Genetic Link between Distinct Developmental Language Disorders

(2008) Sonja C. Vernes et al.   NEW ENGLAND JOURNAL OF MEDICINE

Reactome knowledgebase of human biological pathways and processes

(2008) L. Matthews et al.   NUCLEIC ACIDS RESEARCH

Genetic and phenotypic effects of phonological short-term memory and grammatical morphology in specific language impairment

(2007) M. Falcaro et al.   GENES BRAIN AND BEHAVIOR