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TranscriptomicsGenomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.
We report genomic analysis of 300 meningiomas, the most common primary brain tumors, leading to the discovery of mutations in TRAF7, a proapoptotic E3 ubiquitin ligase, in nearly one-fourth of all meningiomas. Mutations in TRAF7 commonly occurred with a recurrent mutation (K409Q) in KLF4, a transcri...
ORGANISM(S): Homo sapiens 
2014-05-29 | E-GEOD-58037 | biostudies-arrayexpress
GenomicsYale
Data Access Committee EGAC00001000406
EGAC00001000406 | EGA
GenomicsCerebellar ataxia cases - samples
Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples
EGAD00010000130 | EGA
GenomicsIdentification of genetic etiology of CAMRQ2
We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAM...
EGAS00000000099 | EGA
GenomicsBilMBG Data Access Committee
Data Access Committee EGAC01000000008
EGAC01000000008 | EGA
GenomicsIgA Nephropathy GWAS (IGANGWAS)

We report a genome-wide association study of IgA nephropathy, a main cause of kidney failure. All subjects were of Chinese Han ancestry, of which 1,194 were cases and 902 controls. Genomic DNA samples extracted from whole blood were genotyped on the Illumina 610 Quad platform.

phs000431.v1.p1 | EGA
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