Molecular subtyping and improved treatment of neurodevelopmental disease
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Title
Molecular subtyping and improved treatment of neurodevelopmental disease
Authors
Keywords
Autism Spectrum Disorder, Schizophrenia, Autism Spectrum Disorder, Intellectual Disability, Intellectual Disability
Journal
Genome Medicine
Volume 8, Issue 1, Pages -
Publisher
Springer Nature
Online
2016-02-25
DOI
10.1186/s13073-016-0278-z
References
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Note: Only part of the references are listed.- Prevalence of Autism among Adolescents with Intellectual Disabilities
- (2017) Susan E Bryson et al. CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE
- De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
- (2015) Maja Hempel et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
- (2015) Georgia Vasileiou et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
- (2015) Lot Snijders Blok et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
- (2015) Gemma L. Carvill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- CHD2variants are a risk factor for photosensitivity in epilepsy
- (2015) Elizabeth C. Galizia et al. BRAIN
- Cerebral visual impairment and intellectual disability caused by PGAP1 variants
- (2015) Daniëlle G M Bosch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
- (2015) Nuria C. Bramswig et al. HUMAN GENETICS
- De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes
- (2015) María Concepción Gil-Rodríguez et al. HUMAN MUTATION
- B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
- (2015) Gunnar Houge et al. JOURNAL OF CLINICAL INVESTIGATION
- WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
- (2015) Cori DeSanto et al. JOURNAL OF MEDICAL GENETICS
- De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy
- (2015) Maxime G Blanchard et al. JOURNAL OF MEDICAL GENETICS
- Whole-genome sequencing of quartet families with autism spectrum disorder
- (2015) Ryan K C Yuen et al. NATURE MEDICINE
- Pathway-driven discovery of epilepsy genes
- (2015) Jeffrey Noebels NATURE NEUROSCIENCE
- Mutations in ARID2 are associated with intellectual disabilities
- (2015) Linshan Shang et al. NEUROGENETICS
- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
- (2015) R. H. Thomas et al. NEUROLOGY
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea
- (2014) Fan Xia et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- 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
- TheARID1Bphenotype: What we have learned so far
- (2014) Gijs W.E. Santen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations inSMARCB1,SMARCA4,SMARCE1, andARID1A
- (2014) Tomoki Kosho et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism
- (2014) Geert Vandeweyer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
- (2014) Teresa Tavassoli et al. BMC Medical Genetics
- Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency
- (2014) Monique Van Scherpenzeel et al. BRAIN
- A Genotype-First Approach to Defining the Subtypes of a Complex Disease
- (2014) Holly A. Stessman et al. CELL
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
- (2014) Raphael Bernier et al. CELL
- Antiepileptic activity of preferential inhibitors of persistent sodium current
- (2014) Lyndsey L. Anderson et al. EPILEPSIA
- Thalamic stimulation to improve level of consciousness after seizures: Evaluation of electrophysiology and behavior
- (2014) Abhijeet Gummadavelli et al. EPILEPSIA
- Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
- (2014) Alma Kuechler et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
- (2014) Charlotte W Ockeloen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- KDM5C mutational screening among males with intellectual disability suggestive of X-Linked inheritance and review of the literature
- (2014) Thainá Fernandez Gonçalves et al. European Journal of Medical Genetics
- Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly
- (2014) Sarah Grotto et al. European Journal of Medical Genetics
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- (2014) Nina De Rocker et al. GENETICS IN MEDICINE
- The discovery of integrated gene networks for autism and related disorders
- (2014) Fereydoun Hormozdiari et al. GENOME RESEARCH
- De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
- (2014) Alma Kuechler et al. HUMAN GENETICS
- Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
- (2014) Frank J. Kaiser et al. HUMAN MOLECULAR GENETICS
- Variants inCUL4Bare Associated with Cerebral Malformations
- (2014) Anneke T. Vulto-van Silfhout et al. HUMAN MUTATION
- De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
- (2014) Jae-Ran Lee et al. HUMAN MUTATION
- Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features
- (2014) Valter Tucci et al. JOURNAL OF CLINICAL INVESTIGATION
- Involvement of the kinesin family membersKIF4AandKIF5Cin intellectual disability and synaptic function
- (2014) Marjolein H Willemsen et al. JOURNAL OF MEDICAL 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
- De novo mutations in schizophrenia implicate synaptic networks
- (2014) Menachem Fromer et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
- (2014) Céline Helsmoortel et al. NATURE GENETICS
- Refining analyses of copy number variation identifies specific genes associated with developmental delay
- (2014) Bradley P Coe et al. NATURE GENETICS
- Enhancement of Inhibitory Neurotransmission by GABA A Receptors Having α 2,3 -Subunits Ameliorates Behavioral Deficits in a Mouse Model of Autism
- (2014) Sung Han et al. NEURON
- Recurrent de novo mutations implicate novel genes underlying simplex autism risk
- (2014) B. J. O'Roak et al. Nature Communications
- 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
- 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
- Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
- (2013) Suleyman Gulsuner et al. CELL
- MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- (2013) P Makrythanasis et al. CLINICAL GENETICS
- Exon-disrupting deletions ofNRXN1in idiopathic generalized epilepsy
- (2013) Rikke S. Møller et al. EPILEPSIA
- Exome sequencing reveals new causal mutations in children with epileptic encephalopathies
- (2013) Krishna R. Veeramah et al. EPILEPSIA
- 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
- Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
- (2013) Gijs W.E. Santen et al. HUMAN MUTATION
- 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
- Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
- (2013) Andres Moreno-De-Luca et al. LANCET NEUROLOGY
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1
- (2013) Gemma L Carvill et al. NATURE GENETICS
- GRIN2A mutations cause epilepsy-aphasia spectrum disorders
- (2013) Gemma L Carvill et al. NATURE GENETICS
- The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
- (2013) Sarah M Nikkel et al. Orphanet Journal of Rare Diseases
- Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment
- (2013) Scott C. Baraban et al. Nature Communications
- Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
- (2012) Hyung-Goo Kim et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
- (2012) Jacob J. Michaelson et al. CELL
- Mutations inDYNC1H1cause severe intellectual disability with neuronal migration defects
- (2012) Marjolein H Willemsen et al. JOURNAL OF MEDICAL GENETICS
- Sensitivity and Specificity of Proposed DSM-5 Diagnostic Criteria for Autism Spectrum Disorder
- (2012) James C. McPartland et al. JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission
- (2012) Sung Han et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- 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
- Genetic and Epigenetic Networks in Intellectual Disabilities
- (2011) Hans van Bokhoven Annual Review of Genetics
- Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism
- (2011) Joachim Hallmayer ARCHIVES OF GENERAL PSYCHIATRY
- Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms
- (2011) Mala Isrie et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt- -Catenin Signaling Pathway
- (2011) M. Nishiyama et al. MOLECULAR AND CELLULAR BIOLOGY
- Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study
- (2009) Paul Lichtenstein et al. LANCET
- Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
- (2009) Da Wei Huang et al. Nature Protocols
- Cognitive Disorders Associated with Epilepsy: Diagnosis and Treatment
- (2009) Mar Carreño et al. NEUROLOGIST
- Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study
- (2008) Vera A. Morgan et al. BRITISH JOURNAL OF PSYCHIATRY
- Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
- (2008) Da Wei Huang et al. NUCLEIC ACIDS RESEARCH
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