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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

Genes encoding members of mammalian SWI/SNF (BAF) complexes are frequently mutated in individuals with neurodevelopmental disorders (NDDs). Mutant NDD residues include some unique to NDD and those shared with human cancers, impacting key structural hubs.

Alfredo M. Valencia
Akshay Sankar
Cigall Kadoch
ResearchOpen Access27 Jul 2023
Nature Genetics

Volume: 55, P: 1400-1412
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

Mutations in the ARID1B subunit of the BAF chromatin remodeling complex are associated with the neurodevelopmental Coffin-Siris syndrome. Here the authors reveal that there is a transition from ARID1A-containing complexes to ARID1B during cranial neural crest cell differentiation that is impaired in Coffin-Siris patient-derived cells, which is important for exit from pluripotency.

Luca Pagliaroli
Patrizia Porazzi
Marco Trizzino
ResearchOpen Access09 Nov 2021
Nature Communications

Volume: 12, P: 1-16
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

Alison M. Muir
Jennifer F. Gardner
Heather C. Mefford
Research20 Jan 2021
Genetics in Medicine

Volume: 23, P: 881-887
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss
Hayley P. Lazar
Katherine Lachlan
Research07 Aug 2019
Genetics in Medicine

Volume: 22, P: 389-397
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Enrico D. H. Konrad
Niels Nardini
Christiane Zweier
ResearchOpen Access26 Jun 2019
Genetics in Medicine

Volume: 21, P: 2723-2733
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh
Natasha Jones
Tyler Mark Pierson
Research17 Jan 2020
Genetics in Medicine

Volume: 22, P: 878-888
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs
Sandra Jansen
Gijs W. E. Santen
ResearchOpen Access08 Nov 2018
Genetics in Medicine

Volume: 21, P: 1295-1307
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Dong Li
Alanna Strong
Elizabeth Bhoj
Research27 Nov 2020
Genetics in Medicine

Volume: 23, P: 637-644
Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski
Olivera Djuric
Livia Garavelli
ResearchOpen Access04 Jan 2018
Genetics in Medicine

Volume: 20, P: 965-975
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss
Hayley P. Lazar
Katherine Lachlan
Amendments and Corrections17 Dec 2019
Genetics in Medicine

Volume: 22, P: 669
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

Christine Shieh
Natasha Jones
Tyler Mark Pierson
Amendments and Corrections12 Feb 2020
Genetics in Medicine

Volume: 22, P: 822
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs
Sandra Jansen
Gijs W. E. Santen
Amendments and CorrectionsOpen Access29 Jan 2019
Genetics in Medicine

Volume: 21, P: 2160-2161
Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Livia Garavelli
Ivan Ivanovski
Alex R Paciorkowski
ResearchOpen Access10 Nov 2016
Genetics in Medicine

Volume: 19, P: 691-700

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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

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

De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder

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

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

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