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).

• Comparison of prognostic gene expression signatures for breast cancer.

  PMID 18717985 · PMC2533026 · BMC genomics · 2008 · 8 claims · 5 setups

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  The three prognostic signatures (70-gene, 76-gene, GGI) show similar prognostic performance for predicting DMFS despite differing gene identity and development approach

  tbagd tbvdx gene clinical survival

• A genomic approach to improve prognosis and predict therapeutic response in chronic lymphocytic leukemia.

  PMID 19861443 · PMC2783430 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups

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  A genomic signature derived from CLL patient leukemic cells significantly differentiates stable from progressive disease

  duke nci-60 mayo spanish gene cdna igvh

• Multiplexed genetic analysis using an expanded genetic alphabet.

  PMID 15319316 · PMC1592527 · Clinical chemistry · 2004 · 7 claims · 6 setups

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  MultiCode PLx is a three-step platform (PCR, target-specific extension, liquid chip decoding) performed in a single reaction vessel and completed in ~3 h

  genomic synthetic subset newborn multicode eracode automated

• Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.

  PMID 16891820 · PMC2729898 · Journal of Korean medical science · 2006 · 7 claims · 7 setups

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  All three unrelated Korean MM patients carried compound heterozygous mutations in the DYSF gene.

  peripheral dysf chromosomes korean genomic pcr direct

• Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

  PMID 18717728 · PMC7254873 · European journal of neurology · 2008 · 8 claims · 4 setups

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  Spatacsin (SPG11) mutations are a frequent cause of complex ARHSP, occurring in 3 of 8 screened families

  genomic patients sanger brain clinical

• Comparative genomic analysis of clinical strains of Campylobacter jejuni from South Africa.

  PMID 18431496 · PMC2292242 · PloS one · 2008 · 8 claims · 4 setups

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  South African HS:41 strains are clearly distinct from the other South African strains by comparative genomic analysis

  clinical genomic jejuni multilocus microarray phylogenetic

• Common genomic features of Campylobacter jejuni subsp. doylei strains distinguish them from C. jejuni subsp. jejuni.

  PMID 17535437 · PMC1892558 · BMC microbiology · 2007 · 8 claims · 6 setups

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  Cjd strains are phylogenetically distinct from Cjj strains based on MLST and CGI analysis

  geographically cjd novel jejuni multilocus comparative phenotypic

• The clinical course and genetic defect in the PCFT gene in a 27-year-old woman with hereditary folate malabsorption.

  PMID 18718264 · PMC3835188 · The Journal of pediatrics · 2008 · 6 claims · 5 setups

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  The patient carries two identical homozygous mutations (GC>AA at positions 197/198) in exon 1 of PCFT, causing a premature stop codon (C66X)

  parental rfc hela blood genomic [3h]5-methyltetrahydrofolate northern

• Comparative genomic profiling of Dutch clinical Bordetella pertussis isolates using DNA microarrays: identification of genes absent from epidemic strains.

  PMID 18590534 · PMC2481270 · BMC genomics · 2008 · 8 claims · 6 setups

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  B. pertussis strains carrying the ptxP3 allele gradually replaced ptxP1 strains and became predominant from 1998, coinciding with the Dutch pertussis resurgence

  dutch additional pertussis ptxp3 multi-locus multiple-locus microarray-based

• Tumor mapping in 2 large multigenerational families with CYLD mutations: implications for disease management and tumor induction.

  PMID 19917957 · PMC2935681 · Archives of dermatology · 2009 · 8 claims · 4 setups

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  The clinical distinction between FC, BSS, and MFT has little prognostic or clinical utility, even within the same family, warranting a unifying diagnosis of 'CYLD cutaneous syndrome'.

  blood-derived individuals patients excised genomic structured tumor

• The past and future of tuberculosis research.

  PMID 19855821 · PMC2745564 · PLoS pathogens · 2009 · 8 claims · 6 setups

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  Integrating systems biology with epidemiology ('systems epidemiology') will be required to better predict TB's trajectory and eliminate the disease

  clinical mycobacterium mtbc patients fingerprinting whole-genome microarray

• Genomics Define Malignant Transformation in Myeloma Precursor Conditions.

  PMID 41061199 · PMC12614327 · Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2026 · 7 claims · 5 setups

  Has reproduction · 78

  Genomic profiling can identify malignant transformation in MGUS/SMM patients, distinguishing 'genomic MM' from 'genomic MGUS' despite identical clinical/morphologic presentation

  cd138+ mgus whole-exome whole-genome copy-number

• Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

  PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

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  Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

  genomic pcr-amplified tsc healthy dhplc direct pcr

• Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism.

  PMID 18978956 · PMC2576482 · Molecular vision · 2008 · 7 claims · 6 setups

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  Mutations in GPR143 were identified in each of six Chinese OA1 families, comprising five novel mutations and one previously known mutation (c.353G>A).

  genomic oa1 one gpr143 pcr heteroduplex junction-fragment

• Novel CLCN1 mutations and clinical features of Korean patients with myotonia congenita.

  PMID 19949657 · PMC2775849 · Journal of Korean medical science · 2009 · 7 claims · 8 setups

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  Sequencing of CLCN1 in 10 unrelated Korean MC patients identified nine different point mutations, six of which are novel (p.M128I, p.S189C, p.M373L, p.P480S, p.G523D, p.M609K).

  genomic frozen skeletal korean direct rt-pcr-based pcr-restriction

• Phenotypic characteristics of colo-rectal cancer in I1307K APC germline mutation carriers compared with sporadic cases.

  PMID 11720476 · PMC2375261 · British journal of cancer · 2001 · 8 claims · 5 setups

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  I1307K APC germline mutation carriers were identified in 28 of 307 (9.1%) unselected Israeli CRC patients

  genomic pcr unselected i1307k mutation sequencing clinical

• A chromosomally integrated bacteriophage in invasive meningococci.

  PMID 15967821 · PMC2212043 · The Journal of experimental medicine · 2005 · 8 claims · 7 setups

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  An 8-kb genetic island (NMA1792-NMA1799) is specifically associated with hyperinvasive meningococcal clonal complexes

  meningitidis culture czech patients comparative pcr nuclease

• COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

  PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

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  COMP mutations were identified in 78% of families referred with PSACH

  genomic sequence subset pcr bidirectional sequence

• Genomic sequencing of the severe acute respiratory syndrome-coronavirus.

  PMID 16916263 · PMC7121524 · Methods in molecular biology (Clifton, N.J.) · 2006 · 7 claims · 7 setups

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  PCR-based amplification and direct sequencing of SARS-CoV genome fragments is feasible from uncultured clinical specimens (serum, nasopharyngeal aspirate, stool), avoiding culture-derived artifacts and biohazard risk.

  sars-cov extracted cdna pcr viral reverse real-time

• Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P).

  PMID 16887033 · PMC1559599 · BMC medical genetics · 2006 · 6 claims · 5 setups

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  A multiplexed suspension bead array (Luminex) assay was developed to genotype 8 Ashkenazi-prevalent disease alleles including GBA c.1448T>C

  genomic de-identified multiplex sanger clinical