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ARID1B, LYS1777TER
National Institutes of Health
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Related topics
Related topics
1 relation
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior
Amanda L. Smith
,
E. Jung
,
B. T. Jeon
,
Woo-Yang Kim
Scientific Reports
2020
Corpus ID: 218593130
Inhibitory interneurons are essential for proper brain development and function. Dysfunction of interneurons is implicated in…
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Highly Cited
2017
Highly Cited
2017
Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior
Eui-Man Jung
,
J. Moffat
,
J. Liu
,
S. Dravid
,
C. Gurumurthy
,
Woo-Yang Kim
Nature Neuroscience
2017
Corpus ID: 3896960
Haploinsufficiency of the AT-rich interactive domain 1B (ARID1B) gene causes autism spectrum disorder and intellectual disability…
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Review
2015
Review
2015
ARID1B-mediated disorders: Mutations and possible mechanisms.
Joe C H Sim
,
S. White
,
P. Lockhart
Intractable & rare diseases research
2015
Corpus ID: 25823198
Mutations in the gene encoding AT-rich interactive domain-containing protein 1B (ARID1B) were recently associated with multiple…
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2014
2014
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Joe C H Sim
,
S. White
,
+13 authors
P. Lockhart
Orphanet Journal of Rare Diseases
2014
Corpus ID: 8134527
BackgroundMutations in genes encoding components of the Brahma-associated factor (BAF) chromatin remodeling complex have recently…
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Review
2014
Review
2014
Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
T. Malli
,
H. Duba
,
+8 authors
G. Webersinke
American journal of medical genetics. Part A
2014
Corpus ID: 35606411
Here, we report on a male patient with developmental delay, speech impairment, mild dysmorphic features, and borderline…
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