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).

• A novel mutation and phenotypes in phosphodiesterase 6 deficiency.

  PMID 18723146 · PMC2593460 · American journal of ophthalmology · 2008 · 8 claims · 8 setups

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  A high-throughput arRP genotyping microarray (APEX technology) combined with sequencing can efficiently identify disease-associated alleles across 17 arRP genes in RP patients

  blood-extracted family 8-member pde6-deficient arrp direct pedigree

• Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.

  PMID 17511870 · PMC1888713 · BMC genetics · 2007 · 8 claims · 5 setups

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  Most individuals with CFEOM1 and rare individuals with CFEOM3 harbor heterozygous mutations in KIF21A

  genomic pedigree proband pcr denaturing dhplc

• Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women.

  PMID 18270997 · PMC2909109 · American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2008 · 8 claims · 5 setups

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  The G/A and A/A genotypes of G472A (Val158Met) are point-wise significantly associated with opiate addiction in Hispanic women but not men (P=0.049)

  genomic opioid-dependent subjects direct taqman statistical

• A variant of the SLC10A2 gene encoding the apical sodium-dependent bile acid transporter is a risk factor for gallstone disease.

  PMID 19823678 · PMC2757911 · PloS one · 2009 · 6 claims · 4 setups

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  SLC10A2 is a novel susceptibility gene for cholelithiasis in humans

  genomic pooled sanger maldi-tof genotype-phenotype

• Two previously proposed P1/P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen.

  PMID 16212661 · PMC1282566 · BMC genetics · 2005 · 8 claims · 4 setups

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  The previously proposed P2-specific markers -551_-550insC and -160A>G do not correlate with P1/P2 phenotype, since they occur homozygously in many P1 individuals too

  genomic erythrocytes direct pcr pcr-asp

• 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

• Molecular characterization of retinitis pigmentosa in Saudi Arabia.

  PMID 19956407 · PMC2786884 · Molecular vision · 2009 · 8 claims · 7 setups

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  The causative mutation was identified in 51 of 52 (94%/98%) Saudi RP patients, including seven novel mutations.

  blood-derived families pcr-amplified ethnically genome-wide linkage bidirectional

• A novel GJA8 mutation causing a recessive triangular cataract.

  PMID 18483562 · PMC2375854 · Molecular vision · 2008 · 8 claims · 6 setups

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  A homozygous single base-pair insertion (c.776insG) in GJA8 causes a recessive triangular nuclear cataract in two affected siblings.

  proband's blood-derived genomic family rt-pcr pcr restriction

• Genetic and biochemical studies in Argentinean patients with variegate porphyria.

  PMID 18570668 · PMC2467414 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  All 18 studied VP patients harbored PPOX gene mutations in heterozygous state

  peripheral blood relative urine pcr rt-pcr enzyme

• New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

  PMID 19686598 · PMC2736583 · BMC medical genetics · 2009 · 8 claims · 7 setups

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  DGGE screening of the non-duplicated PKD1 region detects likely pathogenic mutations in Czech ADPKD patients

  genomic pcr polycystin-1 czech denaturing sanger family

• ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

  PMID 18465152 · PMC2441586 · Neurogenetics · 2008 · 8 claims · 8 setups

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  37% (16/43) of Dutch index patients with early-onset recessive cerebellar ataxia carry SACS mutations, indicating ARSACS is far more frequent than previously estimated

  genomic identified sacs-mutation-positive alleles pcr clinical brain

• Mutation analysis of congenital cataract in a Basotho family identified a new missense allele in CRYBB2.

  PMID 19649175 · PMC2718852 · Molecular vision · 2009 · 8 claims · 6 setups

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  A heterozygous missense mutation c.607G>A in exon 6 of CRYBB2, causing p.Val187Met, is the probable causative mutation for congenital nuclear cataract in this family

  genomic basotho pcr restriction secondary

• Optimal scaling of digital transcriptomes.

  PMID 24223126 · PMC3819321 · PloS one · 2013 · 8 claims · 8 setups

  Has reproduction · 67

  Fifteen existing and novel transcript-count normalization algorithms can be compared with two novel, mutually independent metrics: the number of "uniform" genes (sufficiently low coefficient of variation after normalization) and low average Spearman correlation between normalized expression profiles of gene pairs.

  tissues bodymap mapped 16-sample bulk read transcript

• Mutation analysis of the Uromodulin gene in 96 individuals with urinary tract anomalies (CAKUT).

  PMID 18846391 · PMC3155267 · Pediatric nephrology (Berlin, Germany) · 2009 · 8 claims · 5 setups

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  No UMOD mutations were identified in 96 patients with CAKUT after full mutation screening

  genomic pcr cakut direct cel sequencing

• Linkage disequilibrium mapping of a breast cancer susceptibility locus near RAI/PPP1R13L/iASPP.

  PMID 18588689 · PMC2474586 · BMC medical genetics · 2008 · 8 claims · 6 setups

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  A region spanning the gene RAI and the 5' portion of XPD is associated with postmenopausal breast cancer

  peripheral genomic genotype independent linkage targeted genotyping

• Exome sequencing of a multigenerational human pedigree.

  PMID 20011588 · PMC2788131 · PloS one · 2009 · 8 claims · 6 setups

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  Microarray-based exome capture combined with 454 GS FLX NGS is an efficient and reliable method to enrich for chromosomal regions of interest, validated on eight individuals from a three-generation pedigree

  genomic eluted captured pcr microarray-based qpcr next-generation

• Adequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndrome.

  PMID 19876656 · PMC2899680 · Pediatric nephrology (Berlin, Germany) · 2010 · 7 claims · 3 setups

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  Self-identified Hispanic SRNS patients in the USA are genetically heterogeneous, being of either Caucasian or Mesoamerican (Native-American) descent

  genomic same healthy direct genome-wide

• Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

  PMID 17554261 · PMC2628541 · Nature genetics · 2007 · 8 claims · 8 setups

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  IRGM SNPs (rs13361189, rs4958847) show strong replicated association with Crohn disease; IRGM induces autophagy and control of intracellular bacteria

  wtccc replication population cases genome-wide taqman snp

• Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

  PMID 19912631 · PMC2780402 · BMC medical genetics · 2009 · 8 claims · 6 setups

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  Mutations in RAG1/2 and DCLRE1C account for around 50% and 25%, respectively, of the study cohort, a proportion much higher than previously reported series

  parental genomic anonymized peripheral microsatellite direct mutation

• Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations.

  PMID 19956714 · PMC2776354 · PloS one · 2009 · 8 claims · 5 setups

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  3,019 CNVs (2,381 autosomal, 638 X chromosome) were identified across 985 Caucasian and 692 Asian individuals using the Affymetrix 500K array

  same caucasian cau autosomal snp copy population