Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability

A single-cell atlas of the normal and malformed human brain vasculature

(2022) Ethan A. Winkler et al.   SCIENCE

Nests of dividing neuroblasts sustain interneuron production for the developing human brain

(2022) Mercedes F. Paredes et al.   SCIENCE

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

Regulatory genomic circuitry of human disease loci by integrative epigenomics

(2021) Carles A. Boix et al.   NATURE

Somatic mutation landscapes at single-molecule resolution

(2021) Federico Abascal et al.   NATURE

Landmarks of human embryonic development inscribed in somatic mutations

(2021) Sara Bizzotto et al.   SCIENCE

Early developmental asymmetries in cell lineage trees in living individuals

(2021) Liana Fasching et al.   SCIENCE

CNVpytor: a tool for copy number variation detection and analysis from read depth and allele imbalance in whole-genome sequencing

(2021) Milovan Suvakov et al.   GigaScience

Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

(2020) Wei Zhang et al.   GENES & DEVELOPMENT

The evolutionary history of 2,658 cancers

(2020) Moritz Gerstung et al.   NATURE

Accurate detection of mosaic variants in sequencing data without matched controls

(2020) Yanmei Dou et al.   NATURE BIOTECHNOLOGY

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

(2020) Daniel P. Howrigan et al.   NATURE NEUROSCIENCE

De novo mutations identified by exome sequencing implicate rare missense variants in SLC6A1 in schizophrenia

(2020) Elliott Rees et al.   NATURE NEUROSCIENCE

Chromatin accessibility dynamics in a model of human forebrain development

(2020) Alexandro E. Trevino et al.   SCIENCE

Single-cell Transcriptomic Landscape of Human Blood Cells

(2020) Xiaowei Xie et al.   National Science Review

Interrogating the Genetic Determinants of Tourette’s Syndrome and Other Tic Disorders Through Genome-Wide Association Studies

(2019) Dongmei Yu et al.   AMERICAN JOURNAL OF PSYCHIATRY

Regional Heterogeneity in Gene Expression, Regulation, and Coherence in the Frontal Cortex and Hippocampus across Development and Schizophrenia

(2019) Leonardo Collado-Torres et al.   NEURON

MEIS transcription factors in development and disease

(2019) Dorothea Schulte et al.   DEVELOPMENT

Comprehensive Characterization of Cancer Driver Genes and Mutations

(2018) Matthew H. Bailey et al.   CELL

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

(2018) Antonio F. Pardiñas et al.   NATURE GENETICS

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

(2018) Sheng Wang et al.   Cell Reports

COSMIC: the Catalogue Of Somatic Mutations In Cancer

(2018) John G Tate et al.   NUCLEIC ACIDS RESEARCH

Transcriptome and epigenome landscape of human cortical development modeled in organoids

(2018) Anahita Amiri et al.   SCIENCE

High prevalence of focal and multi-focal somatic genetic variants in the human brain

(2018) Michael J. Keogh et al.   Nature Communications

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

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

(2017) Michael J. McConnell et al.   SCIENCE

Transcriptomic and anatomic parcellation of 5-HT3AR expressing cortical interneuron subtypes revealed by single-cell RNA sequencing

(2017) Sarah Frazer et al.   Nature Communications

Transcriptome Analysis of the Human Striatum in Tourette Syndrome

(2016) Jessica B. Lennington et al.   BIOLOGICAL PSYCHIATRY

Near-optimal probabilistic RNA-seq quantification

(2016) Nicolas L Bray et al.   NATURE BIOTECHNOLOGY

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

(2015) Xiaoyu Chen et al.   BIOINFORMATICS

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

A High-Resolution Enhancer Atlas of the Developing Telencephalon

(2013) Axel Visel et al.   CELL

Reelin and the Cdc42/Rac1 guanine nucleotide exchange factor αPIX/Arhgef6 promote dendritic Golgi translocation in hippocampal neurons

(2013) Maurice Meseke et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

ChromHMM: automating chromatin-state discovery and characterization

(2012) Jason Ernst et al.   NATURE METHODS

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits

(2011) Ger J.A. Ramakers et al.   HUMAN MOLECULAR GENETICS

Detailed Characterization of Alterations of Chromosomes 7, 9, and 10 in Glioblastomas as Assessed by Single-Nucleotide Polymorphism Arrays

(2011) Inês Crespo et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Ctip2 Controls the Differentiation of Medium Spiny Neurons and the Establishment of the Cellular Architecture of the Striatum

(2008) P. Arlotta et al.   JOURNAL OF NEUROSCIENCE

Neuronal Nuclei Isolation from Human Postmortem Brain Tissue

(2008) Anouch Matevossian et al.   Jove-Journal of Visualized Experiments