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).

• Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia.

  PMID 17223989 · PMC1859977 · Clinical endocrinology · 2007 · 7 claims · 5 setups

  Full-text index only

  MC2R mutations can be found in children diagnosed with salt-losing forms of adrenal hypoplasia

  genomic plasma children direct plasma standard

• A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita.

  PMID 17308433 · PMC3479083 · Hormone research · 2007 · 7 claims · 6 setups

  Full-text index only

  A novel C794G transversion causing missense mutation T265R in DAX1 (NR0B1) is responsible for X-linked adrenal hypoplasia congenita in this kindred

  genomic tsa201 unspecified proband sequence modified full-length

• Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

  PMID 19755480 · PMC4306717 · The Journal of clinical endocrinology and metabolism · 2009 · 8 claims · 4 setups

  Full-text index only

  Homozygosity for a novel TACR3 His148Leu mutation causes normosmic isolated hypogonadotropic hypogonadism (nIHH) in three siblings

  blood hek293a bosc serum sanger calcium confocal

• High-resolution profiling of pathways of escape for SARS-CoV-2 spike-binding antibodies.

  PMID 34010620 · PMC8096189 · Cell · 2021 · 7 claims · 3 setups

  Has reproduction · 87

  Phage-DMS comprehensively maps the effect of all possible single mutations across the SARS-CoV-2 spike protein on polyclonal plasma antibody binding, defining antibody escape pathways.

  phage-displayed covid-19 pseudotyped phage-dms elisa pseudovirus

• 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 · 8 claims · 6 setups

  Has reproduction · 78

  Genomics can identify malignant transformation in MGUS and SMM, defining biologically distinct subsets termed genomic MM and genomic MGUS that are indistinguishable from or distinct from MM at the genomic level.

  cd138+ mgus bone whole-exome whole-genome cnv

• Female monozygotic twins discordant for hemophilia A due to nonrandom X-chromosome inactivation.

  PMID 18645989 · PMC5715470 · American journal of hematology · 2008 · 7 claims · 8 setups

  Full-text index only

  Monozygotic twin A (severe hemophilia A, FVIII:C <1%) shows complete nonrandom X-inactivation skewed toward the paternal (normal factor VIII) X-chromosome

  peripheral cheek genomic twin factor karyotype microsatellite

• Detection of mutations in EGFR in circulating lung-cancer cells.

  PMID 18596266 · PMC3551471 · The New England journal of medicine · 2008 · 8 claims · 7 setups

  Full-text index only

  The CTC-chip microfluidic device isolates CTCs from NSCLC patients in sufficient quantity and purity to permit EGFR mutational analysis

  blood archived nsclc plasma microfluidic allele-specific standard

• Neoadjuvant sintilimab plus chemotherapy in EGFR-mutant NSCLC: Phase 2 trial interim results (NEOTIDE/CTONG2104).

  PMID 38897205 · PMC11293361 · Cell reports. Medicine · 2024 · 8 claims · 8 setups

  Has reproduction · 72

  Neoadjuvant sintilimab plus carboplatin/nab-paclitaxel is clinically feasible and tolerable in resectable EGFR-mutant NSCLC, with all 18 patients completing treatment and undergoing radical surgery.

  pre resected tumor serial whole-exome bulk single-cell