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GenomicsSC_DDD-G-3
Unfiltered genotype data for DDD Study trios (patient and parents) (N=2,166 samples), some of which were used for replication of neurodevelopmental disorder polygenic risk (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanOmniExpress BeadChip
EGAD00010001602 | EGA
GenomicsSC_DDD-G-4
Post-QC (pre-imputation) genotype data for N=6,983 DDD probands included in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Consists of filtered set of samples and variants from EGAD00010001598 and EGAD00010001600. Includes patient HPO phenotype terms and GWAS summary sta...
EGAD00010001604 | EGA
GenomicsSC_DDD-G-2
Batch 2 of unfiltered genotype for DDD Study patients (N=8,286), some of which were used in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Samples were genotyped on the Illumina InfiniumCoreExome Beadchip. QC'd data is available in release EGAD00010001604
EGAD00010001600 | EGA
GenomicsSC_DDD-G-1
Batch 1 of unfiltered genotype data for DDD Study patients (N=2,997), some of which were used in the neurodevelopmental disorder discovery GWAS (Niemi et al., Nature 2018). Samples were genotyped on the Illumina HumanCoreExome BeadChip. QC'd data is available in release EGAD00010001604
EGAD00010001598 | EGA
GenomicsSC_DDD-G-5
Post-QC (pre-imputation) genotype data for N=2,166, a subset of trios described in EGAD00010001602. These data form N=722 complete trios in which the proband has a neurodevelopmental phenotype (Niemi et al. Nature 2018). Includes HPO phenotype terms for patients. Samples were genotyped on the Illumi...
EGAD00010001606 | EGA
UnknownPathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.
Not available
S-EPMC11947181 | biostudies-literature
ProteomicsThe phosphatase activity of the PPP2R5D-PP2A holoenzyme modulates liquid-liquid phase separation of the scaffold protein liprin-α1
Liprin-α1 is a widely expressed scaffolding protein that regulates cellular processes such as cell motility and synaptic transmission through assembly of localized higher-order molecular complexes. The dynamic regulation of these complexes remains poorly understood. Liquid-liquid phase separation (L...
ORGANISM(S): Homo sapiens (Human) 
2025-06-23 | PXD063716 | Pride
Protein phosphatase 2a (pp2a)  fluorescence recovery after photobleaching (frap)  mass spectrometry (ms)  phosphorylation  liprin-α1  liprin-β1  intrinsically disordered protein domain  phase separation  houge-janssens syndrome (hjs) 
UnknownNAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report.
Not available
S-EPMC5859388 | biostudies-literature
UnknownEvidence for anticipation in Beckwith-Wiedemann syndrome.
Not available
S-EPMC3831082 | biostudies-literature
UnknownPhenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Not available
S-EPMC5558181 | biostudies-literature
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