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).

• Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

  PMID 18682814 · PMC2493031 · Molecular vision · 2008 · 8 claims · 6 setups

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  dHPLC detected the paternally inherited fetal CRB1 mutation (p.Cys896ter) in maternal plasma collected at 12 weeks gestation

  maternal serial genomic chorion dhplc automated pcr

• Quantitative proteomics analysis of maternal plasma in Down syndrome pregnancies using isobaric tagging reagent (iTRAQ).

  PMID 19902006 · PMC2774473 · Journal of biomedicine & biotechnology · 2010 · 8 claims · 5 setups

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  iTRAQ labelling combined with 4800 MALDI TOF/TOF can detect quantitative differences in the maternal plasma proteome between DS and euploid pregnancies

  maternal tryptic scx-fractionated identified itraq immunodepletion strong

• Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

  PMID 16961930 · PMC1570477 · Molecular cancer · 2006 · 8 claims · 6 setups

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  Somatic deletion of the maternal NF1 allele occurred in the melanoma of an NF1 patient, demonstrating biallelic NF1 inactivation.

  peripheral microdissected formalin-fixed microsatellite conventional digital

• Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution.

  PMID 17480121 · PMC1865561 · PLoS genetics · 2007 · 7 claims · 8 setups

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  KLF14 is a novel imprinted gene showing monoallelic maternal expression in embryonic and extra-embryonic tissues of both human and mouse

  embryonic fetal monochromosomal fibroblasts allele-specific rt-pcr chromatin

• Prenatal molecular diagnosis of beta-thalassemia: report on the first two cases in Romania.

  PMID 20108460 · PMC5654072 · Journal of medicine and life · 2008 · 7 claims · 5 setups

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  Combined DGGE, ARMS-PCR and PCR-RFLP molecular testing accurately detects β-thalassemia mutations in fetal DNA obtained by amniocentesis or CVS

  fetal β-globin parental str denaturing amplification

• Recurrent RNA edits in human preimplantation potentially enhance maternal mRNA clearance.

  PMID 36543858 · PMC9772385 · Communications biology · 2022 · 8 claims · 7 setups

  Has reproduction · 100

  Compiled the largest human embryonic A-to-I editome to date from 2071 RNA-seq transcriptomes and identified thousands of per-stage Recurrent Embryonic Edits (REEs, present in ≥50% of samples per stage)

  preimplantation single uniparental embryos rna-seq paired gene

• Novel approaches for mechanistic understanding and predicting preeclampsia.

  PMID 19836839 · PMC2790420 · Journal of reproductive immunology · 2009 · 8 claims · 6 setups

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  The classic two-stage hypothesis (Stage I poor placental perfusion causing Stage II maternal symptoms) needs reevaluation because reduced perfusion alone may be insufficient to cause PE.

  maternal il-10-deficient first-trimester third-trimester surgical seldi-tof genetic

• Environmental genomics: an opportunity for the NIEHS.

  PMID 16393638 · PMC1332673 · Environmental health perspectives · 2006 · 8 claims · 5 setups

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  Intrauterine exposure to endocrine-disrupting pesticides can produce transgenerational adverse effects on male fertility

  intrauterine offspring monozygotic specified phenotypic methylation receptor

• Visualization of shared genomic regions and meiotic recombination in high-density SNP data.

  PMID 19696932 · PMC2725774 · PloS one · 2009 · 8 claims · 7 setups

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  SNPduo is a command-line (SNPduo++) and web-accessible tool that analyzes and visualizes relatedness between two individuals using identity by state (IBS) from SNP genotypes.

  trio family siblings synthetic snp synthetic mitochondrial

• Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.

  PMID 15175115 · PMC425576 · BMC genetics · 2004 · 6 claims · 3 setups

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  The SLC22A1LS gene is paternally imprinted (i.e., only the maternal allele is expressed).

  genomic pcr cdna pcr-sscp sequencing

• Newborn sex-specific transcriptome signatures and gestational exposure to fine particles: findings from the ENVIRONAGE birth cohort.

  PMID 28583124 · PMC5458481 · Environmental health : a global access science source · 2017 · 7 claims · 6 setups

  Has reproduction · 71

  Gestational PM2.5 exposure is associated with sex-specific gene expression changes in newborn cord blood, with major differences between boys and girls.

  cord maternal genes significant genome pm2.5 isolation

• A comparative study on recombination activity in cattle.

  PMID 41942849 · PMC13067647 · Genetics, selection, evolution : GSE · 2026 · 8 claims · 8 setups

  Has reproduction · 93

  Genotype data with high systematic missingness across breeds and arrays can be streamlined and analysed with three complementary recombination-estimation approaches (HMM-based LINKPHASE3, deterministic hsphase, likelihood-based hsrecombi)

  six paternal alphasimr-simulated brown snp recombination simulation

• Expanding the vision of environmental health at UNC-CH.

  PMID 15248304 · PMC1247395 · Environmental health perspectives · 2004 · 8 claims · 8 setups

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  Human breast tumors arise from at least two distinct cell types, basal and luminal epithelial, with different clinical behavior

  breast chinese carolina rodent microarray functional genetic

• Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions.

  PMID 16512914 · PMC1413517 · BMC medical genetics · 2006 · 8 claims · 5 setups

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  Patient carries a novel 2.3 Mb deletion in 22q11.2 with proximal breakpoint between RH48663/RH48348 and distal breakpoint between D22S1138/SHGC-145314

  genomic maternal 22qtdr chromosome semi-quantitative pcr fish

• Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.

  PMID 17895983 · PMC1976591 · PloS one · 2007 · 8 claims · 5 setups

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  Sequencing of complete mtDNA genomes in 23 pediatric patients identified 27 significant variants (12 novel, 15 known) associated with mitochondrial encephalomyopathies.

  blood-derived lymphocytes maternal wild-type complete respiratory pcr-rflp

• Genetic and epigenetic contributions to human nutrition and health: managing genome-diet interactions.

  PMID 18755320 · PMC5421377 · Journal of the American Dietetic Association · 2008 · 8 claims · 7 setups

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  Folate-mediated one-carbon metabolism is a conduit linking the cellular nutrient environment to genome regulation via nucleotide biosynthesis for DNA synthesis and SAM biosynthesis for genome methylation.

  yellow premenopausal men humans dietary mthfr plasma

• Pathogenic mitochondrial DNA mutations are common in the general population.

  PMID 18674747 · PMC2495064 · American journal of human genetics · 2008 · 7 claims · 6 setups

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  At least 1 in 200 healthy humans harbors a pathogenic mtDNA mutation with potential to cause disease in offspring of female carriers

  neonatal independent m.1555a→g-positive mutation-positive high-throughput last-cycle cloning

• DNA methylation of cancer genome.

  PMID 19960550 · PMC2940836 · Birth defects research. Part C, Embryo today : reviews · 2009 · 8 claims · 7 setups

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  Cancer epigenome alterations fall into two main categories: hypermethylation of tumor suppressor genes and hypomethylation of oncogenes or heterochromatin.

  embryonic germ heterozygous cancer gene hypomorphic methyltransferase

• Microglia maintain structural integrity during fetal brain morphogenesis.

  PMID 38309258 · PMC10869139 · Cell · 2024 · 8 claims · 8 setups

  Has reproduction · 68

  ATM-like microglia accumulate at two embryonic cortical boundaries, the cortico-striato-amygdalar boundary (CSA) and cortico-septal boundary (CSB)

  embryonic brain fetal embryos single-cell immunolabeling antibody-mediated

• Dynamic reversal of random X-Chromosome inactivation during iPSC reprogramming.

  PMID 31515287 · PMC6771397 · Genome research · 2019 · 8 claims · 5 setups

  Has reproduction · 75

  XCR during iPSC reprogramming is hierarchical, with subsets of X-linked genes reactivating early, intermediate, late, and very late.

  mus embryonic reprogramming ipsc allele-specific fluorescence-activated live