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ProteomicsExome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a sev...
ORGANISM(S): Homo sapiens (Human) 
2022-02-16 | PXD023584 | Pride
Proteogenomics Pch1 Solve-rd Exome reanalysis Trip4 
UnknownDiagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Not available
S-EPMC10914449 | biostudies-literature
UnknownReanalysis of clinical exome identifies the second variant in two individuals with recessive disorders.
Not available
S-EPMC10250359 | biostudies-literature
UnknownIdentification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing.
Not available
S-EPMC10038781 | biostudies-literature
UnknownReanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
Not available
S-EPMC10858114 | biostudies-literature
UnknownA three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.
Not available
S-EPMC7484757 | biostudies-literature
UnknownReanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
Not available
S-EPMC9204949 | biostudies-literature
UnknownIncreased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Not available
S-EPMC6777617 | biostudies-literature
UnknownEnding diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia.
Not available
S-EPMC12522949 | biostudies-literature
UnknownAn outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.
Not available
S-EPMC12049463 | biostudies-literature
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