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).

• Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

  PMID 18616530 · PMC4732719 · Clinical genetics · 2008 · 8 claims · 8 setups

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  TMC1 mutations were identified in seven of the families/patients segregating hearing loss linked to DFNA36/DFNB7-11

  families affected tmc1 tjp2 genetic sequencing multiplex

• A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

  PMID 18197425 · PMC2259258 · Pediatric nephrology (Berlin, Germany) · 2008 · 8 claims · 7 setups

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  Genome-wide linkage analysis identifies several novel loci for primary VUR on chromosomes 1, 3, 4, and 22, supporting genetic heterogeneity.

  patients multiplex index pedigree genome-wide fine-mapping haplotype

• Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

  PMID 16460646 · PMC3525152 · Human genomics · 2006 · 8 claims · 8 setups

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  GJB2 (connexin 26) mutations account for hearing loss in only 17 of 156 families (11%), a smaller fraction than reported in other populations.

  palestinian genomic probands lymphoblasts targeted sanger pcr

• Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

  PMID 18813951 · PMC4428656 · European journal of pediatrics · 2009 · 7 claims · 6 setups

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  SLC26A4 mutations are the most prevalent cause of syndromic hereditary hearing loss (Pendred syndrome) in Iran

  affected short pcr perchlorate

• No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.

  PMID 19077293 · PMC2635354 · BMC medical genetics · 2008 · 8 claims · 5 setups

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  SAFB1 and SAFB2 had previously been proposed as tumour suppressor genes in breast cancer based on functional properties (ERα repression) and loss of heterozygosity in tumours

  germline genomic identified individuals sequencing pcr mlpa

• Genetics of autistic disorders: review and clinical implications.

  PMID 19941018 · PMC2839494 · European child & adolescent psychiatry · 2010 · 8 claims · 8 setups

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  AD are predominantly genetically determined disorders with heritability of around 90%.

  families individuals parietal post-mortem genome-wide candidate standard

• Single nucleotide polymorphism-based genome-wide linkage analysis in Japanese atopic dermatitis families.

  PMID 17900373 · PMC2082241 · BMC dermatology · 2007 · 8 claims · 4 setups

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  This is the first SNP-based genome-wide linkage study of atopic dermatitis performed in an Asian population.

  japanese same genome-wide snp-based family-based targeted

• Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.

  PMID 17668063 · PMC1925147 · PloS one · 2007 · 8 claims · 7 setups

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  Mutations in UBIAD1 are causal for Schnyder crystalline corneal dystrophy

  pedigrees pedigree genomic ubiad1 microsatellite fine direct

• Genome screen to detect linkage to common susceptibility genes for intracranial and aortic aneurysms.

  PMID 18948608 · PMC2629798 · Stroke · 2009 · 8 claims · 4 setups

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  Genomewide linkage analysis in 26 multiplex IA families with AA-affected members identified LOD peaks on chromosome 11 (LOD=3.0) and chromosome 6 (LOD=2.3) using a broad IA/AA-combined phenotype

  multiplex individuals fia subjects genomewide snp medical

• Systems genetics of alcoholism.

  PMID 23584748 · PMC3860445 · Alcohol research & health : the journal of the National Institute on Alcohol Abuse and Alcoholism · 2008 · 8 claims · 8 setups

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  Alcoholism is a multifactorial disease driven by interacting genetic, social, and environmental factors, with genetics accounting for 50-60% of risk.

  families drosophila mice han linkage metabolic gene

• Managing incidental findings in human subjects research: analysis and recommendations.

  PMID 18547191 · PMC2575242 · The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2008 · 8 claims · 5 setups

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  Little guidance currently exists on managing research IFs, and no consensus exists on the best approach across genetic/genomic and imaging research domains.

  affected large research consent linkage genomic structural

• Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

  PMID 20023659 · PMC2980844 · Nature genetics · 2010 · 8 claims · 8 setups

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  Mutations in INF2, a formin family actin-regulating protein, cause autosomal dominant focal segmental glomerulosclerosis (FSGS)

  families genes individuals kidney genome-wide sanger resequencing

• Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

  PMID 15447792 · PMC523852 · BMC medical genetics · 2004 · 8 claims · 8 setups

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  TMPRSS3 mutations were identified in four additional Pakistani families with recessive, nonsyndromic congenital deafness co-segregating with DFNB8/B10 haplotypes

  pakistani affected retina tissues linkage sanger race

• PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

  PMID 16430766 · PMC1434729 · BMC medical genetics · 2006 · 7 claims · 8 setups

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  Linkage analysis can pre-select which gene (PKD1 or PKD2) to screen for mutations in ADPKD families with sufficient samples

  genomic pcr additional cat linkage direct heteroduplex

• Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

  PMID 18808722 · PMC2570672 · BMC medical genetics · 2008 · 8 claims · 7 setups

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  LQTS-associated mutations were identified in 8 of 112 families studied

  large lqts family mutation linkage direct single-strand

• Genetics of bipolar disorder.

  PMID 18689285 · PMC3181866 · Dialogues in clinical neuroscience · 2008 · 8 claims · 6 setups

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  BP-I has a strong genetic component supported by segregation, adoption, and twin studies across populations

  multiplex pooled bp-affected monozygotic genome-wide genome candidate

• Human QTL linkage mapping.

  PMID 18668207 · PMC2761031 · Genetica · 2009 · 8 claims · 6 setups

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  Human QTL linkage mapping remains a productive approach for complex traits despite the perception that it does not work, and will continue to be productive especially combined with RNA expression QTLs and dense SNP panels

  mexican pomc gene promoter genome-wide gene expression

• Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

  PMID 19844255 · PMC2824775 · European journal of human genetics : EJHG · 2010 · 7 claims · 7 setups

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  A locus on chromosome 16q23-24 affects HDL-C levels in two independent French-Canadian family studies (QUE and SLSJ)

  que slsj candidate skin genome-wide sanger tagging

• Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling.

  PMID 18157127 · PMC2397541 · Nature genetics · 2008 · 8 claims · 8 setups

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  Homozygous truncating mutations in PCNT cause Seckel syndrome

  consanguineous genomic lymphoblastoid lcls snp-microarray sanger immunofluorescence

• Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

  PMID 18719945 · PMC2716558 · Human genetics · 2008 · 8 claims · 6 setups

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  PCDH15 has an updated gene structure with four additional exons beyond the previously reported 35, producing isoforms in four classes with three alternative cytoplasmic domains (CD1, CD2, CD3).

  genomic retina cdna protocadherin str pcr rt-pcr