(Q50630136)

16 March 2018

title

Numerous BAF complex genes are mutated in Coffin-Siris syndrome. (English)

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16 March 2018

author

Yoshinori Tsurusaki

series ordinal

2

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16 March 2018

author name string

Noriko Miyake

series ordinal

1

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16 March 2018

Naomichi Matsumoto

series ordinal

3

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16 March 2018

publication date

31 July 2014

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16 March 2018

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

published in

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16 March 2018

volume

166C

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16 March 2018

issue

3

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page(s)

257-261

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16 March 2018

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

cites work

1 reference

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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability

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Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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Exome sequencing identifies the cause of a mendelian disorder

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21 January 2018

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From neural development to cognition: unexpected roles for chromatin

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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

21 January 2018

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Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

21 January 2018

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

21 January 2018

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Next-generation DNA sequencing

21 January 2018

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21 January 2018

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

21 January 2018

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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

21 January 2018

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

21 January 2018

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SWI/SNF nucleosome remodellers and cancer.

21 January 2018

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31406

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16 March 2018

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16 March 2018