Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder
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Title
Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder
Authors
Keywords
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Journal
MOLECULAR PSYCHIATRY
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2023-05-30
DOI
10.1038/s41380-023-02096-x
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Note: Only part of the references are listed.- Mitochondrial DNA variation across 56,434 individuals in gnomAD
- (2022) Kristen M. Laricchia et al. GENOME RESEARCH
- Cross-disorder analysis of genic and regulatory copy number variations in bipolar disorder, schizophrenia, and autism spectrum disorder
- (2022) Itaru Kushima et al. BIOLOGICAL PSYCHIATRY
- Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia
- (2022) Duncan S. Palmer et al. NATURE GENETICS
- Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
- (2022) Sara Bizzotto et al. NATURE REVIEWS NEUROSCIENCE
- Association of mitochondrial DNA content, heteroplasmies and inter-generational transmission with autism
- (2022) Yiqin Wang et al. Nature Communications
- The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
- (2021) Rachel E. Rodin et al. NATURE NEUROSCIENCE
- Large mosaic copy number variations confer autism risk
- (2021) Maxwell A. Sherman et al. NATURE NEUROSCIENCE
- Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference
- (2021) Jun Takayama et al. Nature Communications
- Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE)
- (2021) Thomas Bonduelle et al. Acta Neuropathologica Communications
- Low-level brain somatic mutations are implicated in schizophrenia
- (2021) Myeong-Heui Kim et al. BIOLOGICAL PSYCHIATRY
- An alternative splicing hypothesis for neuropathology of schizophrenia: evidence from studies on historical candidate genes and multi-omics data
- (2021) Chu-Yi Zhang et al. MOLECULAR PSYCHIATRY
- Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
- (2021) Niamh Mullins et al. NATURE GENETICS
- Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder
- (2021) Masaki Nishioka et al. Nature Communications
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- The evolutionary dynamics and fitness landscape of clonal hematopoiesis
- (2020) Caroline J. Watson et al. SCIENCE
- Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
- (2020) Wei Wei et al. Nature Communications
- m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity
- (2020) Teun M. Klein Gunnewiek et al. Cell Reports
- Primary mitochondrial diseases increase susceptibility to bipolar affective disorder
- (2020) Alessandro Colasanti et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Evidence for 28 genetic disorders discovered by combining healthcare and research data
- (2020) Joanna Kaplanis et al. NATURE
- The STRING database in 2021: customizable protein–protein networks, and functional characterization of user-uploaded gene/measurement sets
- (2020) Damian Szklarczyk et al. NUCLEIC ACIDS RESEARCH
- Assessment of somatic single-nucleotide variation in brain tissue of cases with schizophrenia
- (2019) John F. Fullard et al. Translational Psychiatry
- Genome-wide association study identifies 30 loci associated with bipolar disorder
- (2019) Eli A. Stahl et al. NATURE GENETICS
- Current understanding of bipolar disorder: Toward integration of biological basis and treatment strategies
- (2019) Tadafumi Kato PSYCHIATRY AND CLINICAL NEUROSCIENCES
- Germline selection shapes human mitochondrial DNA diversity
- (2019) Wei Wei et al. SCIENCE
- Cohort Profile: Tohoku Medical Megabank Project Birth and Three-Generation Cohort Study (TMM BirThree Cohort Study): Rationale, Progress and Perspective
- (2019) Shinichi Kuriyama et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- A framework for the investigation of rare genetic disorders in neuropsychiatry
- (2019) Stephan J. Sanders et al. NATURE MEDICINE
- De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder
- (2018) Lot Snijders Blok et al. HUMAN GENETICS
- Taurine supplementation for prevention of stroke-like episodes in MELAS: a multicentre, open-label, 52-week phase III trial
- (2018) Yutaka Ohsawa et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- Identification of somatic mutations in postmortem human brains by whole genome sequencing and their implications for psychiatric disorders
- (2018) Masaki Nishioka et al. PSYCHIATRY AND CLINICAL NEUROSCIENCES
- Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap
- (2018) Michael J. Gandal et al. SCIENCE
- Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors
- (2018) Sarah J. Pickett et al. Annals of Clinical and Translational Neurology
- Somatic mutations in the human brain: implications for psychiatric research
- (2018) Masaki Nishioka et al. MOLECULAR PSYCHIATRY
- Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations
- (2017) Yanmei Dou et al. HUMAN MUTATION
- Global, regional, and national incidence, prevalence, and years lived with disability for 328 diseases and injuries for 195 countries, 1990–2016: a systematic analysis for the Global Burden of Disease Study 2016
- (2017) Theo Vos et al. LANCET
- A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder
- (2017) M Ikeda et al. MOLECULAR PSYCHIATRY
- Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
- (2017) Elaine T Lim et al. NATURE NEUROSCIENCE
- Aging and neurodegeneration are associated with increased mutations in single human neurons
- (2017) Michael A. Lodato et al. SCIENCE
- Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis
- (2017) Taejeong Bae et al. SCIENCE
- Predicting the pathogenicity of novel variants in mitochondrial tRNA with MitoTIP
- (2017) Sanjay Sonney et al. PLoS Computational Biology
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations
- (2016) M Kataoka et al. MOLECULAR PSYCHIATRY
- Rare deleterious mutations are associated with disease in bipolar disorder families
- (2016) A R Rao et al. MOLECULAR PSYCHIATRY
- The neurogenetics of alternative splicing
- (2016) Celine K. Vuong et al. NATURE REVIEWS NEUROSCIENCE
- PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations
- (2016) Abhishek Niroula et al. NUCLEIC ACIDS RESEARCH
- The Contribution of Mosaic Variants to Autism Spectrum Disorder
- (2016) Donald Freed et al. PLoS Genetics
- Exome Sequencing of Familial Bipolar Disorder
- (2016) Fernando S. Goes et al. JAMA Psychiatry
- PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
- (2015) Yongwook Choi et al. BIOINFORMATICS
- Depression-like episodes in mice harboring mtDNA deletions in paraventricular thalamus
- (2015) T Kasahara et al. MOLECULAR PSYCHIATRY
- Metabolic rescue in pluripotent cells from patients with mtDNA disease
- (2015) Hong Ma et al. NATURE
- Somatic mutation in single human neurons tracks developmental and transcriptional history
- (2015) M. A. Lodato et al. SCIENCE
- Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
- (2015) Masao Nagasaki et al. Nature Communications
- A Bayesian framework for de novo mutation calling in parents-offspring trios
- (2014) Qiang Wei et al. BIOINFORMATICS
- A gradient-boosting approach for filtering de novo mutations in parent–offspring trios
- (2014) Yongzhuang Liu et al. BIOINFORMATICS
- De novo mutations in schizophrenia implicate synaptic networks
- (2014) Menachem Fromer et al. NATURE
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia
- (2014) Miki Bundo et al. NEURON
- Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence
- (2014) Giulio Genovese et al. NEW ENGLAND JOURNAL OF MEDICINE
- Age-Related Clonal Hematopoiesis Associated with Adverse Outcomes
- (2014) Siddhartha Jaiswal et al. NEW ENGLAND JOURNAL OF MEDICINE
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- Psychiatric symptoms of patients with primary mitochondrial DNA disorders
- (2012) Gabriella Inczedy-Farkas et al. Behavioral and Brain Functions
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- The Psychiatric Manifestations of Mitochondrial Disorders
- (2012) Rebecca E. Anglin et al. JOURNAL OF CLINICAL PSYCHIATRY
- Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation
- (2012) Paul de Laat et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Impaired mitochondrial function in psychiatric disorders
- (2012) Husseini Manji et al. NATURE REVIEWS NEUROSCIENCE
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- Robust relationship inference in genome-wide association studies
- (2010) Ani Manichaikul et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
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