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TranscriptomicsCystic leukoencephalopathy without megalencephaly
The cystic leukoencephalopathy without megalencephaly has been defined as distinct autosomal-recessive syndrome of quasi-static encephalopathy with normo- or microcephaly, impaired psychomotor development and characteristic pattern on brain MRI. We identified mutations in the gene encoding the RNASE...
ORGANISM(S): Homo sapiens 
2009-06-02 | E-GEOD-11964 | biostudies-arrayexpress
Genomicsena-DATASET-MRCHGUIGMM-07-10-2015-09:16:27:050-356 - samples
BAM files for two WES TRAIP patients
EGAD00001001633 | EGA
Genomics233fa72b-87ef-4a9b-b96d-dfb6ca9543bd - samples
This dataset contains the aligned whole genome sequencing data of cell line 380. This cell was established from the peripheral blood of a 15-year-old boy with acute lymphoblastic leukemia at relapse, showing an immature phenotype and carrying an IGH-MYC (t(8;14)) as well as an IGH-BCL2 (t(14;18)) ch...
EGAD00001004090 | EGA
GenomicsTRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism/Seckel syndrome. We establish that TRAIP relocali...
EGAS00001001501 | EGA
GenomicsGenomic landscape of IG-MYC positive Burkitt lymphoma with precursor B-cell immunophenotype.
As part of the ICGC, the ICGC MMML-Seq project performed whole genome sequencing of a rare Burkitt lymphoma subtype with precursor B-cell immunophenotype. Analysis were performed in concordance with the guidelines of the ICGC.
EGAS00001002968 | EGA
GenomicsMRC HGU IGMM Edinburgh DAC
Data Access Committee EGAC00001000393
EGAC00001000393 | EGA
ProteomicsAnalysis of the MAGED2 interactome
The MAGED2 interactome was analyzed in HEK293T cells using three different strategies.
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-28 | MSV000080703 | MassIVE
Genomicsena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
EGAD00001003130 | EGA
GenomicsWhole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
EGAS00001002193 | EGA
GenomicsData access committee for BAMS exome sequencing data.
Data Access Committee EGAC00001000583
EGAC00001000583 | EGA
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