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GenomicsMolecular Genetic Studies of Developmental Brain Disorders

Study 1
2R01-NS050375 (PI: DOBYNS, William B.)
The genetic basis of mid-hindbrain malformations
Our general goal for this project is to advance our understanding of human developmental disorders that involve the brainstem and cerebellum - brain structures derived from the embryoni...

phs000455.v1.p1 | EGA
TranscriptomicsImpaired DNA damage metabolism promotes autoimmunity in TREX1 deficiencyÂ
Constitutive low level DNA damage is linked to innate immune activation. Hierarchical clustering of over 9000 transcripts revealed remarkably similar profiles in a patient with lupus erythematosus and a patient with AGS with up-regulation of genes involved in DNA damage signaling, p53-inducible gene...
ORGANISM(S): Homo sapiens 
2016-05-30 | E-GEOD-59233 | biostudies-arrayexpress
TranscriptomicsA non-coding mutation implicates HCFC1 in non-syndromic intellectual disability
Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation ...
ORGANISM(S): Homo sapiens 
2012-09-01 | E-GEOD-39326 | biostudies-arrayexpress
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