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 1-bp duplication in TGFB2 in three family members with a syndromic form of thoracic aortic aneurysm.

  PMID 24193348 · PMC4060107 · European journal of human genetics : EJHG · 2014 · 6 claims · 2 setups

  Has reproduction · 83

  A novel heterozygous c.1165dupA mutation in exon 7 of TGFB2 (p.Ser389Lysfs*8) was identified in three members of one family with syndromic TAAD.

  cohort patient-derived sanger transcript

• Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs.

  PMID 36414417 · PMC10103091 · Journal of the American Society of Nephrology : JASN · 2023 · 7 claims · 7 setups

  Has reproduction · 85

  Hemizygous variants in the X-linked gene ARHGEF6 cause X-linked CAKUT in humans

  international kidney expressing madin-darby exome cdc42 lamellipodia

• A urine extracellular vesicle lncRNA classifier for high-grade prostate cancer and increased risk of progression: A multi-center study.

  PMID 37852185 · PMC10591064 · Cell reports. Medicine · 2023 · 8 claims · 8 setups

  Has reproduction · 65

  A 3-lncRNA urine extracellular vesicle classifier (Clnc: AC015987.1, CTD-2589M5.4, RP11-363E6.3) detects high-grade PCa with higher accuracy than PCA3, mpMRI, PCPT-RC 2.0, and ERSPC-RC

  urinary tcga paired urine sequencing lncrna qrt-pcr

• Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.

  PMID 17663003 · PMC3272403 · Journal of the neurological sciences · 2007 · 6 claims · 5 setups

  Full-text index only

  Only two BSCL2 exon 3 mutations (N88S, S90L) are likely responsible for the dHMN-V and Silver syndrome phenotypes identified in this cohort

  unrelated probands single sanger nerve needle

• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

  PMID 39039281 · PMC11319204 · Nature genetics · 2024 · 6 claims · 5 setups

  Has reproduction · 87

  A structured multidisciplinary exome sequencing framework established molecular genetic diagnoses in 32% of patients with suspected ultrarare disorders, comprising 370 distinct molecular causes.

  patients exome deep computer-assisted

• IL-6 trans-Signaling Regulates Neutrophilic Inflammation in Alcohol-Associated Hepatitis.

  PMID 40562277 · PMC13168973 · The American journal of pathology · 2026 · 8 claims · 8 setups

  Has reproduction · 71

  Hepatic IL-6R expression progressively declines with increasing severity of alcohol-related liver disease, from normal to early ASH to nonsevere and severe AH

  liver hepatocytes hepg2 ptpn11 bulk immunohistochemistry single-cell

• Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

  PMID 36928603 · PMC10101853 · Nature genetics · 2023 · 8 claims · 6 setups

  Has reproduction · 80

  The WHO histopathological classification of MPM accounts for only up to ~10% of interpatient molecular differences

  mpm mesomics whole-genome bulk methylation

• Reduced secretion of fibulin 5 in age-related macular degeneration and cutis laxa.

  PMID 16652333 · PMC1828612 · Human mutation · 2006 · 7 claims · 6 setups

  Full-text index only

  FBLN5 missense mutations are associated with ARMD in a European (UK/Dutch) cohort, confirming prior US findings

  armd dutch fibulin pef6-ssflag mutation computational site-directed

• Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

  PMID 19862842 · PMC2830005 · Human mutation · 2009 · 8 claims · 6 setups

  Full-text index only

  Mutations in HGD, which encodes homogentisate dioxygenase, cause AKU by blocking conversion of homogentisic acid to maleylacetoacetic acid in the tyrosine catabolic pathway

  aku hgd recombinant hgd missense splice

• 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

  Full-text index only

  SLC10A2 is a novel susceptibility gene for cholelithiasis in humans

  genomic pooled sanger maldi-tof genotype-phenotype

• TOSCA: an automated Tumor Only Somatic CAlling workflow for somatic mutation detection without matched normal samples.

  PMID 36699358 · PMC9710689 · Bioinformatics advances · 2022 · 6 claims · 2 setups

  Has reproduction · 50

  TOSCA is the first automated, open-source, end-to-end tumor-only somatic calling workflow for WES and targeted panel sequencing data.

  t-cell hcc1395 targeted whole-exome

• Prevalence and clinical correlates of JAK2 mutations in Down syndrome acute lymphoblastic leukaemia.

  PMID 19120350 · PMC2724897 · British journal of haematology · 2009 · 8 claims · 4 setups

  Full-text index only

  JAK2 R683 point mutations occur in 18.9% (10/53) of DS ALL cases, confirming the previously reported incidence.

  bone remission sanger pyrosequencing paired

• New and old complex recombinant HIV-1 strains among patients with primary infection in 1996-2006 in France: the French ANRS CO06 primo cohort study.

  PMID 18673538 · PMC2553414 · Retrovirology · 2008 · 7 claims · 5 setups

  Full-text index only

  04FR-KZS clusters with two previously described DRC viruses and represents CRF27_cpx, a complex recombinant involving A/E/G/H/J/K/U subtypes.

  pbmcs v3-v5 full-length undetermined v3-v5 full-length phylogenetic

• Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

  PMID 18424448 · PMC2465798 · Human molecular genetics · 2008 · 8 claims · 8 setups

  Full-text index only

  Genotype CC (rs2234693/PvuII) and C-allele-containing haplotypes in ESR1 intron 1 are more frequent in African American schizophrenics than controls

  genomic postmortem nimhgi esr1 targeted case-control family-based

• Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

  PMID 39256359 · PMC11387733 · Nature communications · 2024 · 8 claims · 7 setups

  Has reproduction · 87

  Heterozygous missense or loss-of-function variants in LRRC7 cause a dominant neurodevelopmental disorder in 33 identified individuals

  genomes genematcher affected 293t genetic exome phenotype

• CDKL1 variants affecting ciliary formation predispose to thoracic aortic aneurysm and dissection.

  PMID 41056017 · PMC12646653 · The Journal of clinical investigation · 2025 · 8 claims · 8 setups

  Has reproduction · 67

  Heterozygous CDKL1 missense variants (Cys143Arg, Ser206Leu, Thr135Met) were identified in 6 patients from 3 families with TAAD spectrum disorders

  patients cohort cdkl1 aortic exome gene structural

• Pathway signatures derived from on-treatment tumor specimens predict response to anti-PD1 blockade in metastatic melanoma.

  PMID 34654806 · PMC8519947 · Nature communications · 2021 · 7 claims · 4 setups

  Has reproduction · 100

  Pathway-based signatures derived from on-treatment tumor specimens (PASS-ON) are highly predictive of response to anti-PD1 blockade in metastatic melanoma, achieving validation AUCs of 0.85–0.89.

  metastatic bulk

• A four-gene signature from blood to exclude bacterial etiology of lower respiratory tract infection in adults.

  PMID 41285807 · PMC12644739 · Nature communications · 2025 · 8 claims · 8 setups

  Has reproduction · 94

  A 4-gene whole-blood signature (ITGB4, ITGA7, IFI27, FAM20A) discriminates any bacterial from nonbacterial ARI with cross-validated AUC = 0.90

  hospitalized ari febrile infection bulk rna-seq microarray

• Identification of succinylation-related genes in bladder cancer: integration of single-cell and transcriptomic data.

  PMID 42220482 · PMC13218921 · Frontiers in immunology · 2026 · 8 claims · 8 setups

  Has reproduction · 78

  KCTD16, CD3D and GSDMB are succinylation-related prognostic genes in BLCA

  paired tcga-blca geo gse135337 bulk single-cell rt-qpcr

• Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes.

  PMID 15720714 · PMC551616 · BMC genetics · 2005 · 7 claims · 5 setups

  Full-text index only

  None of the six candidate gene regions showed evidence of association with type 1 diabetes (all multi-locus/single-locus test P values > 0.2)

  genomic case-control nramp1 type sanger snp microsatellite