Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

  PMID 18509552 · PMC2391085 · Molecular vision · 2008 · 7 claims · 7 setups

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  Point mutations and small insertions/deletions in TOPORS cause approximately 1% of adRP

  genomic unrelated additional patients fluorescent multiplex sequencing

• Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

  PMID 19881469 · PMC4511341 · Journal of human genetics · 2009 · 8 claims · 6 setups

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  Screening all 72 exons of USH2A (long isoform) identifies significantly more mutations than screening only the short-isoform exons 1-21

  genomic ush2 ush2a sscp audiological ophthalmological

• Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.

  PMID 19093009 · PMC2603250 · Molecular vision · 2008 · 8 claims · 6 setups

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  OCT detects foveal and lamellar macular retinoschisis more frequently than funduscopy alone

  xlrs genomic optical full-field multifocal