BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

(2020) Elena Buglo et al.   PLoS One

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

(2019) Pleuntje J. van der Sluijs et al.   GENETICS IN MEDICINE

Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI/SNF-related intellectual disability

(2019) Rohan Khazanchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mammalian ISWI and SWI/SNF selectively mediate binding of distinct transcription factors

(2019) Darko Barisic et al.   NATURE

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

(2019) Elena Perenthaler et al.   Frontiers in Cellular Neuroscience

Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling

(2019) Alfredo M. Valencia et al.   CELL

Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI/SNF chromatin remodeling subcomplexes

(2018) Aktan Alpsoy et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

(2018) Nina Bögershausen et al.   Frontiers in Molecular Neuroscience

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

(2018) Keren Machol et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Modular Organization and Assembly of SWI/SNF Family Chromatin Remodeling Complexes

(2018) Nazar Mashtalir et al.   CELL

Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA

(2018) Christopher J. Walker et al.   LEUKEMIA

A non-canonical SWI/SNF complex is a synthetic lethal target in cancers driven by BAF complex perturbation

(2018) Brittany C. Michel et al.   NATURE CELL BIOLOGY

Chromatin regulatory mechanisms and therapeutic opportunities in cancer

(2018) Alfredo M. Valencia et al.   NATURE CELL BIOLOGY

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

A non-canonical BRD9-containing BAF chromatin remodeling complex regulates naive pluripotency in mouse embryonic stem cells

(2018) Jovylyn Gatchalian et al.   Nature Communications

Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders

(2017) Maja Tarailo-Graovac et al.   GENETICS IN MEDICINE

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

(2017) Peter D. Stenson et al.   HUMAN GENETICS

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

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

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

(2016) Niccolò E. Mencacci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases

(2016) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PRC2 and SWI/SNF Chromatin Remodeling Complexes in Health and Disease

(2016) Cigall Kadoch et al.   BIOCHEMISTRY

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

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Genetic compensation induced by deleterious mutations but not gene knockdowns

(2015) Andrea Rossi et al.   NATURE

Tissue-based map of the human proteome

(2015) M. Uhlen et al.   SCIENCE

A genetic toolkit for tagging intronic MiMIC containing genes

(2015) Sonal Nagarkar-Jaiswal et al.   eLife

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

(2014) Mari-Anne Vals et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Basal Keratinocytes Contribute to All Strata of the Adult Zebrafish Epidermis

(2014) Raymond T. H. Lee et al.   PLoS One

Coffin-Siris syndrome is a SWI/SNF complex disorder

(2013) Y. Tsurusaki et al.   CLINICAL GENETICS

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

(2013) Gijs W.E. Santen et al.   HUMAN MUTATION

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Position-Effect Variegation, Heterochromatin Formation, and Gene Silencing in Drosophila

(2013) S. C. R. Elgin et al.   Cold Spring Harbor Perspectives in Biology

The Coffin-Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

(2012) Samantha A. Schrier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The PBAP remodeling complex is required for histone H3.3 replacement at chromatin boundaries and for boundary functions

(2012) T. Nakayama et al.   DEVELOPMENT

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

(2012) Yoshinori Tsurusaki et al.   NATURE GENETICS

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

An integrative approach to ortholog prediction for disease-focused and other functional studies

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

TheDrosophilaGene Disruption Project: Progress Using Transposons With Distinctive Site Specificities

(2011) Hugo J. Bellen et al.   GENETICS

MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes

(2011) Koen J T Venken et al.   NATURE METHODS

CHD7 cooperates with PBAF to control multipotent neural crest formation

(2010) Ruchi Bajpai et al.   NATURE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The epigenetic bottleneck of neurodegenerative and psychiatric diseases

(2009) Farahnaz Sananbenesi et al.   BIOLOGICAL CHEMISTRY

Early zebrafish development: It's in the maternal genes

(2009) Elliott W Abrams et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Epigenetic dysregulation in cognitive disorders

(2009) Johannes Gräff et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Nucleosome positioning and gene regulation: advances through genomics

(2009) Cizhong Jiang et al.   NATURE REVIEWS GENETICS

Genetics and epigenetics: stability and plasticity during cellular differentiation

(2009) Fabio Mohn et al.   TRENDS IN GENETICS

BRD7, a Novel PBAF-specific SWI/SNF Subunit, Is Required for Target Gene Activation and Repression in Embryonic Stem Cells

(2008) Matthias D. Kaeser et al.   JOURNAL OF BIOLOGICAL CHEMISTRY