Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism

(2020) Wendy Wenderski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy

(2019) Marco Fichera et al.   HUMAN GENETICS

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

(2019) Kevin C.J. Nixon et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

(2019) Scott Bell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants

(2019) François Lecoquierre et al.   GENETICS IN MEDICINE

Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4

(2019) Fangjian Gao et al.   MOLECULAR CELL

Recessive gene disruptions in autism spectrum disorder

(2019) Ryan N. Doan et al.   NATURE GENETICS

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

(2019) Dan Bai et al.   JAMA Psychiatry

Genetic Causes and Modifiers of Autism Spectrum Disorder

(2019) Lauren Rylaarsdam et al.   Frontiers in Cellular Neuroscience

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

(2018) Georgia Vasileiou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Organoids required! A new path to understanding human brain development and disease

(2018) Paola Arlotta   NATURE METHODS

SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage

(2018) Ingrid Faber et al.   NeuroImage-Clinical

Autozygome and high throughput confirmation of disease genes candidacy

(2018) Sateesh Maddirevula et al.   GENETICS IN MEDICINE

5-HT release in nucleus accumbens rescues social deficits in mouse autism model

(2018) Jessica J. Walsh et al.   NATURE

Activity-Regulated Transcription: Bridging the Gap between Neural Activity and Behavior

(2018) Ee-Lynn Yap et al.   NEURON

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

(2017) Nuria C. Bramswig et al.   HUMAN GENETICS

Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability

(2017) Ronit Marom et al.   HUMAN MUTATION

BAF53b, a Neuron-Specific Nucleosome Remodeling Factor, Is Induced after Learning and Facilitates Long-Term Memory Consolidation

(2017) Miran Yoo et al.   JOURNAL OF NEUROSCIENCE

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

SMARCB1 is required for widespread BAF complex–mediated activation of enhancers and bivalent promoters

(2017) Robert T Nakayama et al.   NATURE GENETICS

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

TOP2 synergizes with BAF chromatin remodeling for both resolution and formation of facultative heterochromatin

(2017) Erik L Miller et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

TOP2 synergizes with BAF chromatin remodeling for both resolution and formation of facultative heterochromatin

(2017) Erik L Miller et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

(2017) Cemre Celen et al.   eLife

Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders

(2017) Godwin Sokpor et al.   Frontiers in Molecular Neuroscience

Resting-State Functional Connectivity in Autism Spectrum Disorders: A Review

(2017) Jocelyn V. Hull et al.   Frontiers in Psychiatry

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

(2016) Cristina Dias et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features

(2016) Anide Johansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired Amino Acid Transport at the Blood Brain Barrier Is a Cause of Autism Spectrum Disorder

(2016) Dora C. Tărlungeanu et al.   CELL

Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2

(2016) Samin A. Sajan et al.   GENETICS IN MEDICINE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin

(2016) Benjamin Z Stanton et al.   NATURE GENETICS

Dynamics of BAF–Polycomb complex opposition on heterochromatin in normal and oncogenic states

(2016) Cigall Kadoch et al.   NATURE GENETICS

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

Working Memory Impairing Actions of Corticotropin-Releasing Factor (CRF) Neurotransmission in the Prefrontal Cortex

(2016) Sofiya Hupalo et al.   NEUROPSYCHOPHARMACOLOGY

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

(2016) Maxim V. Kuleshov et al.   NUCLEIC ACIDS RESEARCH

BDNF rescues BAF53b-dependent synaptic plasticity and cocaine-associated memory in the nucleus accumbens

(2016) André O. White et al.   Nature Communications

Histone methyltransferase Ash1L mediates activity-dependent repression of neurexin-1α

(2016) Τao Zhu et al.   Scientific Reports

The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in Cancer

(2016) Courtney Hodges et al.   Cold Spring Harbor Perspectives in Medicine

Wiz binds active promoters and CTCF-binding sites and is required for normal behaviour in the mouse

(2016) Luke Isbel et al.   eLife

Candidate gene networks and blood biomarkers of methamphetamine-associated psychosis: an integrative RNA-sequencing report

(2016) M S Breen et al.   Translational Psychiatry

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

(2015) Valerie A. Arboleda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Impaired cortical neurogenesis in plexin-B1 and -B2 double deletion mutant

(2015) Nicolas Daviaud et al.   Developmental Neurobiology

Generation ofBAF53b-Cretransgenic mice with pan-neuronal Cre activities

(2015) Xiaoming Zhan et al.   GENESIS

Axon guidance proteins in neurological disorders

(2015) Eljo Y Van Battum et al.   LANCET NEUROLOGY

Critical Role of Histone Turnover in Neuronal Transcription and Plasticity

(2015) Ian Maze et al.   NEURON

Behavioral and Neuroanatomical Phenotypes in Mouse Models of Autism

(2015) Jacob Ellegood et al.   Neurotherapeutics

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

(2015) Alberto J. López et al.   Frontiers in Behavioral Neuroscience

The role of BAF (mSWI/SNF) complexes in mammalian neural development

(2014) Esther Y. Son 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

PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure

(2014) Michel Belyk et al.   JOURNAL OF HUMAN GENETICS

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

(2014) Shafali S. Jeste et al.   Nature Reviews Neurology

ATRX tolerates activity-dependent histone H3 methyl/phos switching to maintain repetitive element silencing in neurons

(2014) Kyung-Min Noh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Regulation of Transcription in Memory Consolidation

(2014) Cristina M. Alberini et al.   Cold Spring Harbor Perspectives in Biology

Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature

(2013) Tomoki Kosho et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Reversible Disruption of mSWI/SNF (BAF) Complexes by the SS18-SSX Oncogenic Fusion in Synovial Sarcoma

(2013) Cigall Kadoch et al.   CELL

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

(2013) Dagmar Wieczorek et al.   HUMAN MOLECULAR GENETICS

Kinetic Analysis of npBAF to nBAF Switching Reveals Exchange of SS18 with CREST and Integration with Neural Developmental Pathways

(2013) B. T. Staahl et al.   JOURNAL OF NEUROSCIENCE

Optimization of apparatus design and behavioral measures for the assessment of visuo-spatial learning and memory of mice on the Barnes maze

(2013) T. P. O'Leary et al.   LEARNING & MEMORY

Transposition of native chromatin for fast and sensitive epigenomic profiling of open chromatin, DNA-binding proteins and nucleosome position

(2013) Jason D Buenrostro et al.   NATURE METHODS

The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory

(2013) Annie Vogel-Ciernia et al.   NATURE NEUROSCIENCE

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

(2013) Brett S Abrahams et al.   Molecular Autism

Global Prevalence of Autism and Other Pervasive Developmental Disorders

(2012) Mayada Elsabbagh et al.   Autism Research

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

(2012) G. Novarino et al.   SCIENCE

Hierarchical chemosensory regulation of male-male social interactions in Drosophila

(2011) Liming Wang et al.   NATURE NEUROSCIENCE

The chromatin remodeling factor Bap55 functions through the TIP60 complex to regulate olfactory projection neuron dendrite targeting

(2011) Joy S Tea et al.   Neural Development

Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State

(2010) Peter J. Skene et al.   MOLECULAR CELL

MicroRNA-mediated switching of chromatin-remodelling complexes in neural development

(2009) Andrew S. Yoo et al.   NATURE

An embryonic stem cell chromatin remodeling complex, esBAF, is essential for embryonic stem cell self-renewal and pluripotency

(2009) L. Ho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

CD36, a Scavenger Receptor Involved in Immunity, Metabolism, Angiogenesis, and Behavior

(2009) R. L. Silverstein et al.   Science Signaling

A Calcium-Dependent Switch in a CREST-BRG1 Complex Regulates Activity-Dependent Gene Expression

(2008) Zilong Qiu et al.   NEURON