A framework for the investigation of rare genetic disorders in neuropsychiatry
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
A framework for the investigation of rare genetic disorders in neuropsychiatry
Authors
Keywords
-
Journal
NATURE MEDICINE
Volume 25, Issue 10, Pages 1477-1487
Publisher
Springer Science and Business Media LLC
Online
2019-09-24
DOI
10.1038/s41591-019-0581-5
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
- (2019) Hanyin Cheng et al. HUMAN MOLECULAR GENETICS
- Single-cell genomics identifies cell type–specific molecular changes in autism
- (2019) Dmitry Velmeshev et al. SCIENCE
- Atypical behaviour and connectivity in SHANK3-mutant macaques
- (2019) Yang Zhou et al. NATURE
- A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships
- (2018) Taylor L. Mighell et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Toward Leveraging Human Connectomic Data in Large Consortia: Generalizability of fMRI-Based Brain Graphs Across Sites, Sessions, and Paradigms
- (2018) Hengyi Cao et al. CEREBRAL CORTEX
- De novo variants in neurodevelopmental disorders with epilepsy
- (2018) Henrike O. Heyne et al. NATURE GENETICS
- Genetic identification of brain cell types underlying schizophrenia
- (2018) Nathan G. Skene et al. NATURE GENETICS
- Author Correction: Altered cerebellar connectivity in autism and cerebellar-mediated rescue of autism-related behaviors in mice
- (2018) Catherine J. Stoodley et al. NATURE NEUROSCIENCE
- Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome
- (2018) Jonathan W. Lovelace et al. NEUROBIOLOGY OF DISEASE
- Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
- (2018) Lisa Bastarache et al. SCIENCE
- Progress in Understanding and Treating SCN2A -Mediated Disorders
- (2018) Stephan J. Sanders et al. TRENDS IN NEUROSCIENCES
- Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples
- (2018) Guillaume Huguet et al. JAMA Psychiatry
- Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome
- (2018) Heather M. O'Leary et al. Annals of Clinical and Translational Neurology
- Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
- (2018) Mari E. K. Niemi et al. NATURE
- Characterization of autism spectrum disorder and neurodevelopmental profiles in youth with XYY syndrome
- (2018) Lisa Joseph et al. Journal of Neurodevelopmental Disorders
- The UK Biobank
- (2018) Nicole Rusk NATURE METHODS
- Building Models of Brain Disorders with Three-Dimensional Organoids
- (2018) Neal D. Amin et al. NEURON
- FOXG1 Orchestrates Neocortical Organization and Cortico-Cortical Connections
- (2018) Francesca Cargnin et al. NEURON
- Magnetoencephalographic Identification of Epileptic Focus in Children With Generalized Electroencephalographic (EEG) Features but Focal Imaging Abnormalities
- (2017) Garima Shukla et al. JOURNAL OF CHILD NEUROLOGY
- A resting EEG study of neocortical hyperexcitability and altered functional connectivity in fragile X syndrome
- (2017) Jun Wang et al. Journal of Neurodevelopmental Disorders
- The iPSYCH2012 case–cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders
- (2017) C B Pedersen et al. MOLECULAR PSYCHIATRY
- Genomic resources for the study of neuropsychiatric disorders
- (2017) G Senthil et al. MOLECULAR PSYCHIATRY
- Early brain development in infants at high risk for autism spectrum disorder
- (2017) Heather Cody Hazlett et al. NATURE
- Assembly of functionally integrated human forebrain spheroids
- (2017) Fikri Birey et al. NATURE
- The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability
- (2017) Tarjinder Singh et al. NATURE GENETICS
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
- (2017) Jack A Kosmicki et al. NATURE GENETICS
- Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders
- (2017) Daniel J Weiner et al. NATURE GENETICS
- Whole genome sequencing in psychiatric disorders: the WGSPD consortium
- (2017) Stephan J. Sanders et al. NATURE NEUROSCIENCE
- Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome
- (2017) Elizabeth M. Berry-Kravis et al. NATURE REVIEWS DRUG DISCOVERY
- mTOR-related neuropathology in mutant tsc2 zebrafish: Phenotypic, transcriptomic and pharmacological analysis
- (2017) Chloë Scheldeman et al. NEUROBIOLOGY OF DISEASE
- ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide
- (2017) Paul M. Thompson et al. NEUROIMAGE
- Emerging Global Initiatives in Neurogenetics: The Enhancing Neuroimaging Genetics through Meta-analysis (ENIGMA) Consortium
- (2017) Carrie E. Bearden et al. NEURON
- De Novo Coding Variants Are Strongly Associated with Tourette Disorder
- (2017) A. Jeremy Willsey et al. NEURON
- mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex
- (2017) Elyza Kelly et al. NEUROPSYCHOPHARMACOLOGY
- Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
- (2017) Jerry R. Mendell et al. NEW ENGLAND JOURNAL OF MEDICINE
- Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
- (2017) Richard S. Finkel et al. NEW ENGLAND JOURNAL OF MEDICINE
- Longitudinal identification of clinically distinct neurophenotypes in young children with fragile X syndrome
- (2017) Jennifer L. Bruno et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Application of network methods for understanding mental disorders: pitfalls and promise
- (2017) S. Guloksuz et al. PSYCHOLOGICAL MEDICINE
- Human tissues in a dish: The research and ethical implications of organoid technology
- (2017) Annelien L. Bredenoord et al. SCIENCE
- Transdiagnostic Associations Between Functional Brain Network Integrity and Cognition
- (2017) Julia M. Sheffield et al. JAMA Psychiatry
- Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders
- (2017) Miriam S. Reuter et al. JAMA Psychiatry
- Genetic tests in major psychiatric disorders—integrating molecular medicine with clinical psychiatry—why is it so difficult?
- (2017) U Demkow et al. Translational Psychiatry
- Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders
- (2017) Darcy A. Krueger et al. Annals of Clinical and Translational Neurology
- Common Marmosets: A Potential Translational Animal Model of Juvenile Depression
- (2017) Nicole Leite Galvão-Coelho et al. Frontiers in Psychiatry
- The atypical antipsychotic blonanserin reverses (+)-PD-128907- and ketamine-induced deficit in executive function in common marmosets
- (2016) Manato Kotani et al. BEHAVIOURAL BRAIN RESEARCH
- Functional outcomes in Rett syndrome
- (2016) Frank S. Pidcock et al. BRAIN & DEVELOPMENT
- Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats
- (2016) Yang Wu et al. Journal of Neurodevelopmental Disorders
- Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
- (2016) Christian R Marshall et al. NATURE GENETICS
- Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
- (2016) Tarjinder Singh et al. NATURE NEUROSCIENCE
- Ultra-rare disruptive and damaging mutations influence educational attainment in the general population
- (2016) Andrea Ganna et al. NATURE NEUROSCIENCE
- The road to precision psychiatry: translating genetics into disease mechanisms
- (2016) Michael J Gandal et al. NATURE NEUROSCIENCE
- The Human Phenotype Ontology in 2017
- (2016) Sebastian Köhler et al. NUCLEIC ACIDS RESEARCH
- Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials
- (2016) Elizabeth Berry-Kravis et al. Science Translational Medicine
- Psychosis as a transdiagnostic and extended phenotype in the general population
- (2016) Jim van Os et al. World Psychiatry
- A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients
- (2016) Yishan Sun et al. eLife
- Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities
- (2016) Debra D’Angelo et al. JAMA Psychiatry
- Visual evoked potentials detect cortical processing deficits in Rett syndrome
- (2015) Jocelyn J. LeBlanc et al. ANNALS OF NEUROLOGY
- Developing better and more valid animal models of brain disorders
- (2015) Adam Michael Stewart et al. BEHAVIOURAL BRAIN RESEARCH
- From Psychiatric Disorders to Animal Models: A Bidirectional and Dimensional Approach
- (2015) Zoe R. Donaldson et al. BIOLOGICAL PSYCHIATRY
- Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
- (2015) S.L. Sawyer et al. CLINICAL GENETICS
- Clinical application of whole-exome sequencing across clinical indications
- (2015) Kyle Retterer et al. GENETICS IN MEDICINE
- Optogenetics and the Circuit Dynamics of Psychiatric Disease
- (2015) Karl Deisseroth et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Copy Number Variations and Cognitive Phenotypes in Unselected Populations
- (2015) Katrin Männik et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
- (2015) Kristiina Tammimies et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders
- (2015) Neelroop N. Parikshak et al. NATURE REVIEWS GENETICS
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- Prefrontal dysfunction and a monkey model of schizophrenia
- (2015) Ping Mao et al. Neuroscience Bulletin
- Treatment of Cognitive Deficits in Genetic Disorders
- (2015) Thijs van der Vaart et al. JAMA Neurology
- The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
- (2015) Andres Moreno-De-Luca et al. JAMA Psychiatry
- Association of Thalamic Dysconnectivity and Conversion to Psychosis in Youth and Young Adults at Elevated Clinical Risk
- (2015) Alan Anticevic et al. JAMA Psychiatry
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
- (2014) Silke Appenzeller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome
- (2014) Maude Schneider et al. AMERICAN JOURNAL OF PSYCHIATRY
- The NIMH Research Domain Criteria (RDoC) Project: Precision Medicine for Psychiatry
- (2014) Thomas R. Insel AMERICAN JOURNAL OF PSYCHIATRY
- Control of Stress-Induced Persistent Anxiety by an Extra-Amygdala Septohypothalamic Circuit
- (2014) Todd E. Anthony et al. CELL
- A Genotype-First Approach to Defining the Subtypes of a Complex Disease
- (2014) Holly A. Stessman et al. CELL
- Phenylalanine hydroxylase deficiency: diagnosis and management guideline
- (2014) GENETICS IN MEDICINE
- Orbitofrontal Dopamine Depletion Upregulates Caudate Dopamine and Alters Behavior via Changes in Reinforcement Sensitivity
- (2014) H. F. Clarke et al. JOURNAL OF NEUROSCIENCE
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- De novo mutations in schizophrenia implicate synaptic networks
- (2014) Menachem Fromer et al. NATURE
- A polygenic burden of rare disruptive mutations in schizophrenia
- (2014) Shaun M. Purcell et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A framework for the interpretation of de novo mutation in human disease
- (2014) Kaitlin E Samocha et al. NATURE GENETICS
- The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
- (2013) George Kirov et al. BIOLOGICAL PSYCHIATRY
- Toward the future of psychiatric diagnosis: the seven pillars of RDoC
- (2013) Bruce N Cuthbert et al. BMC Medicine
- Coexpression Networks Implicate Human Midfetal Deep Cortical Projection Neurons in the Pathogenesis of Autism
- (2013) A. Jeremy Willsey et al. CELL
- Integrative Functional Genomic Analyses Implicate Specific Molecular Pathways and Circuits in Autism
- (2013) Neelroop N. Parikshak et al. CELL
- Distilling Pathophysiology from Complex Disease Genetics
- (2013) Aravinda Chakravarti et al. CELL
- High rate of disease-related copy number variations in childhood onset schizophrenia
- (2013) K Ahn et al. MOLECULAR PSYCHIATRY
- Evidence that duplications of 22q11.2 protect against schizophrenia
- (2013) E Rees et al. MOLECULAR PSYCHIATRY
- CNVs conferring risk of autism or schizophrenia affect cognition in controls
- (2013) Hreinn Stefansson et al. NATURE
- Rescue of fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486
- (2013) B. M. Dolan et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The first mecp2-null zebrafish model shows altered motor behaviors
- (2013) Thomas Pietri et al. Frontiers in Neural Circuits
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
- (2013) Xin He et al. PLoS Genetics
- CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
- (2012) Dheeraj Malhotra et al. CELL
- Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening
- (2012) Maria Loane et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- What makes UK Biobank special?
- (2012) Rory Collins LANCET
- Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
- (2012) D Moreno-De-Luca et al. MOLECULAR PSYCHIATRY
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders
- (2012) The Simons VIP Consortium NEURON
- Reversal of Disease-Related Pathologies in the Fragile X Mouse Model by Selective Activation of GABAB Receptors with Arbaclofen
- (2012) C. Henderson et al. Science Translational Medicine
- Fecundity of Patients With Schizophrenia, Autism, Bipolar Disorder, Depression, Anorexia Nervosa, or Substance Abuse vs Their Unaffected Siblings
- (2012) Robert A. Power et al. JAMA Psychiatry
- Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses
- (2011) Corinne M. Spencer et al. Autism Research
- Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants
- (2011) RENZO GUERRINI et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Genetic analysis of complex traits in the emerging Collaborative Cross
- (2011) David L. Aylor et al. GENOME RESEARCH
- Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
- (2011) Sébastien Jacquemont et al. NATURE
- Using electronic health records to drive discovery in disease genomics
- (2011) Isaac S. Kohane NATURE REVIEWS GENETICS
- Array Comparative Genomic Hybridization Findings in a Cohort Referred for an Autism Evaluation
- (2010) G. Bradley Schaefer et al. JOURNAL OF CHILD NEUROLOGY
- NaV1.1 channels and epilepsy
- (2010) William A. Catterall et al. JOURNAL OF PHYSIOLOGY-LONDON
- Rate, molecular spectrum, and consequences of human mutation
- (2010) M. Lynch PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Criteria for validating mouse models of psychiatric diseases
- (2008) Kathryn K. Chadman et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Autism: Many Genes, Common Pathways?
- (2008) Daniel H. Geschwind CELL
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExplorePublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More