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).

• Isolated eyelid closure myotonia in two families with sodium channel myotonia.

  PMID 19876661 · PMC2854355 · Neurogenetics · 2010 · 6 claims · 5 setups

  Full-text index only

  The L250P mutation in SCN4A is associated with a strictly isolated eyelid closure myotonia phenotype

  patients blood index standardized needle direct

• Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

  PMID 16222317 · PMC2361617 · British journal of cancer · 2005 · 6 claims · 3 setups

  Full-text index only

  Breast cancer risk is strongly and significantly elevated specifically among mothers of AT patients (SIR=7.14), consistent with Olsen et al's finding (SIR=6.7)

  blood same retrospective atm weighted

• Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study.

  PMID 18539534 · PMC2832754 · The Lancet. Neurology · 2008 · 8 claims · 7 setups

  Full-text index only

  LRRK2-associated PD can be distinguished from idiopathic PD by a more benign motor and non-motor phenotype

  unrelated patients people homozygous genetic standardized olfaction

• Decoding and reconstructing disease relations between dry eye and depression: a multimodal investigation comprising meta-analysis, genetic pathways and Mendelian randomization.

  PMID 38548265 · PMC11954816 · Journal of advanced research · 2025 · 7 claims · 8 setups

  Has reproduction · 79

  Meta-analysis confirms a positive bidirectional association between DED and DEP (DED patients have increased DEP prevalence and vice versa).

  studies taiwan twb ded meta-analysis genome-wide conditional

• Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

  PMID 17615541 · PMC2768756 · Molecular vision · 2007 · 8 claims · 4 setups

  Full-text index only

  Eleven different RS1 mutations were identified in 12 Chinese XLRS families, including four novel mutations (26delT, 488delG, Asp145His, Arg156Gly).

  patients genomic xlrs eyes comprehensive pcr single-flash

• Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.

  PMID 18948357 · PMC3044481 · Journal of medical genetics · 2009 · 8 claims · 6 setups

  Full-text index only

  TGM1 germline mutations were identified in 55% (57/104) of patients with ARCI

  arci unrelated dog direct sequence blast

• Association between alcoholism and the genetic polymorphisms of the GABAA receptor genes on chromosome 5q33-34 in Korean population.

  PMID 16778401 · PMC2729963 · Journal of Korean medical science · 2006 · 6 claims · 5 setups

  Full-text index only

  Genetic polymorphisms of the GABA A α1 and α6 receptor genes are significantly associated with alcohol dependence, surviving Bonferroni correction.

  genomic hospitalized pcr-rflp structured