22q13

A chromosome band present on 22q
National Institutes of Health

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Highly Cited
2013
Highly Cited
2013
Phelan–McDermid syndrome (PMDS) is a complex neurodevelopmental disorder characterized by global developmental delay, severely… (More)
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Highly Cited
2013
Highly Cited
2013
BACKGROUND 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, is a neurodevelopmental disorder characterized by… (More)
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2012
2012
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In… (More)
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Highly Cited
2011
Highly Cited
2011
Autism spectrum disorders (ASDs) comprise a range of disorders that share a core of neurobehavioural deficits characterized by… (More)
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Highly Cited
2009
Highly Cited
2009
To search for genetic variants that are associated with prostate cancer risk in the genome, we combined the data from our genome… (More)
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Highly Cited
2009
Highly Cited
2009
A high melanocytic nevi count is the strongest known risk factor for cutaneous melanoma. We conducted a genome-wide association… (More)
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Highly Cited
2008
Highly Cited
2008
The WTCCC study identified 49 SNPs putatively associated with rheumatoid arthritis at P = 1 × 10−4 − 1 × 10−5 (tier 3). Here we… (More)
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Highly Cited
2008
Highly Cited
2008
We carried out a meta-analysis of data from three genome-wide association (GWA) studies of type 1 diabetes (T1D), testing 305,090… (More)
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Highly Cited
2007
Highly Cited
2007
SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins… (More)
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Highly Cited
2003
Highly Cited
2003
METHODS The 22q13 deletion syndrome (MIM 606232) is characterised by moderate to profound mental retardation, delay/absence of… (More)
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