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).

Publications 1.3k Datasets 392.5k Experiments 473

Assay: clinical ✕ Clear

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

PMID 18470323 · PMC2373796 · Molecular vision · 2008 · 7 claims · 4 setups

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The R124C mutation (C417T) in exon 4 of TGFBI cosegregates with lattice corneal dystrophy type I in this Chilean family

members same genomic clinical stereopsis sanger
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

PMID 18449377 · PMC2335123 · Molecular vision · 2008 · 8 claims · 4 setups

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A nonsense mutation (C475T, P.Q155X) in CRYBB2 causes autosomal dominant progressive polymorphic congenital coronary cataracts in this family

family genomic clinical microsatellite direct
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

PMID 18234697 · PMC2577762 · Brain : a journal of neurology · 2008 · 8 claims · 7 setups

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Five different pathogenic GRN mutations (frameshift/premature termination) were identified in 25 affected members of a large UK FTLD cohort, with no whole-gene deletions detected

ftld grn genomic post-mortem clinical volumetric direct
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

PMID 20039262 · PMC4439312 · Annals of neurology · 2009 · 8 claims · 8 setups

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A homozygous NEFL nonsense mutation (E210X) causes a severe, early-onset recessive axonal neuropathy in four siblings of a consanguineous family

family sural nefl-null sw-13 clinical genetic immunohistochemistry
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

PMID 20019893 · PMC2794658 · Molecular vision · 2009 · 7 claims · 7 setups

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A novel missense mutation c.92T>C (p.I31T) in GJA8 causes autosomal dominant congenital nuclear cataract in this Chinese family

family genomic unrelated gja8 clinical microsatellite sequencing
A metadata approach for clinical data management in translational genomics studies in breast cancer.

PMID 19948017 · PMC3225860 · BMC medical genomics · 2009 · 8 claims · 5 setups

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A metadata/CDE-based approach using CancerGrid's semantic web tools enables automatic integration of heterogeneous clinical datasets without loss of original detail

clinical breast metadata estrogen her2
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

PMID 19941982 · PMC4354948 · European journal of medical genetics · 2010 · 8 claims · 5 setups

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Three Hispanic families from Mexico with novel FBN1 mutations show cardiovascular and ocular manifestations of MFS but a paucity of skeletal manifestations.

hispanic hmfs001 family genomic clinical echocardiography ophthalmologic
The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

PMID 19940846 · PMC2923224 · Clinical pharmacology and therapeutics · 2010 · 8 claims · 8 setups

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PMT identified sequence variants in 129 membrane transporter genes in the SLC and ABC superfamilies, discovering over 3100 SNPs

sophie mammalian xenopus lymphoblastoid resequencing cellular heterologous
A genomic approach to improve prognosis and predict therapeutic response in chronic lymphocytic leukemia.

PMID 19861443 · PMC2783430 · Clinical cancer research : an official journal of the American Association for Cancer Research · 2009 · 8 claims · 8 setups

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A genomic signature derived from CLL patient leukemic cells significantly differentiates stable from progressive disease

duke nci-60 mayo spanish gene cdna igvh
The past and future of tuberculosis research.

PMID 19855821 · PMC2745564 · PLoS pathogens · 2009 · 8 claims · 6 setups

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Integrating systems biology with epidemiology ('systems epidemiology') will be required to better predict TB's trajectory and eliminate the disease

clinical mycobacterium mtbc patients fingerprinting whole-genome microarray
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

PMID 19718270 · PMC2732717 · Molecular vision · 2009 · 7 claims · 6 setups

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A novel homozygous frameshift insertion in PROM1 (c.1349insT) causes cone-rod dystrophy with high myopia in this consanguineous family

patients genomic chromosomes clinical fluorescein full-field
Rapid detection of ERG11 gene mutations in clinical Candida albicans isolates with reduced susceptibility to fluconazole by rolling circle amplification and DNA sequencing.

PMID 19682357 · PMC2782262 · BMC microbiology · 2009 · 8 claims · 5 setups

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The RCA assay correctly identified all ERG11 mutations in eight 'reference' azole-resistant C. albicans isolates with known mutations.

clinical pcr template padlock sequencing antifungal
Molecular genomic approaches to infectious diseases in resource-limited settings.

PMID 19855820 · PMC2745561 · PLoS medicine · 2009 · 8 claims · 5 setups

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Researchers in most developing countries lack the technology, resources, and capacity to participate fully in genomics research.

clinical mycobacterium trypanosoma theileria pcr-based molecular whole-genome
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

PMID 17133256 · PMC2670452 · European journal of human genetics : EJHG · 2007 · 7 claims · 3 setups

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Expert clinical-radiological preselection significantly increases mutation detection rate in MED

patients genomic single clinical pcr
Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

PMID 19644383 · PMC2815152 · Journal of acquired immune deficiency syndromes (1999) · 2009 · 8 claims · 3 setups

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K65R mutation is present in a substantial proportion (10.9%) of Nigerian patients failing first-line ART, including many with no prior tenofovir exposure

plasma k65r-positive hiv-1 comparative clinical
Genomics, proteomics and bioinformatics: all in the same boat.

PMID 12374575 · PMC244909 · Genome biology · 2002 · 8 claims · 8 setups

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Microarray sensitivity has improved enough to analyze clinical samples as small as 10-50 nanograms, and many early microarray experiments may need to be repeated due to data quality issues

clinical oligonucleotide-immobilized dendritic blood microarray chip combined
Positive Relationships between Intraocular Pressure and Thyroid Function in Graves' Ophthalmopathy: A Three-Aspect Evidence Analysis.

PMID 40992768 · PMC12479196 · Yonsei medical journal · 2025 · 6 claims · 4 setups

Has reproduction · 68

Increased thyroid function is a risk factor for elevated IOP in patients with Graves' ophthalmopathy.

patients nhanes gtex geo retrospective cross-sectional summary-data-based
Genomic insights into the diversity, virulence, and antimicrobial resistance of group B Streptococcus clinical isolates from Saudi Arabia.

PMID 38711928 · PMC11070470 · Frontiers in cellular and infection microbiology · 2024 · 8 claims · 8 setups

Has reproduction · 69

Sequenced GBS isolates from Saudi Arabia show high genetic diversity, with 28 sequence types and nine distinct serotypes including uncommon serotypes VII and VIII

gbs whole-genome multilocus capsular
Unlocking the microbial studies through computational approaches: how far have we reached?

PMID 36920617 · PMC10016191 · Environmental science and pollution research international · 2023 · 8 claims · 8 setups

Has reproduction

Metagenomics enables culture-independent study of microbial communities directly from their natural environments, bypassing the need for clonal isolation.

clinical bacteriophage vaginal hbv ngs random whole-genome
Therapy effect of either paclitaxel or cyclophosphamide combination treatment in patients with epithelial ovarian cancer and relation to TP53 gene status.

PMID 9703286 · PMC2063030 · British journal of cancer · 1998 · 6 claims · 4 setups

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Paclitaxel/cisplatin therapy produces a higher positive response rate than cyclophosphamide/cisplatin therapy in advanced ovarian cancer

patients frozen genomic clinically randomized rt-pcr temporal

Experiments

Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.

Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series.

A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family.

A metadata approach for clinical data management in translational genomics studies in breast cancer.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

The pharmacogenomics of membrane transporters project: research at the interface of genomics and transporter pharmacology.

A genomic approach to improve prognosis and predict therapeutic response in chronic lymphocytic leukemia.

The past and future of tuberculosis research.

Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

Rapid detection of ERG11 gene mutations in clinical Candida albicans isolates with reduced susceptibility to fluconazole by rolling circle amplification and DNA sequencing.

Molecular genomic approaches to infectious diseases in resource-limited settings.

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.

Clinical and genotypic findings in HIV-infected patients with the K65R mutation failing first-line antiretroviral therapy in Nigeria.

Genomics, proteomics and bioinformatics: all in the same boat.

Positive Relationships between Intraocular Pressure and Thyroid Function in Graves' Ophthalmopathy: A Three-Aspect Evidence Analysis.

Genomic insights into the diversity, virulence, and antimicrobial resistance of group B Streptococcus clinical isolates from Saudi Arabia.

Unlocking the microbial studies through computational approaches: how far have we reached?

Therapy effect of either paclitaxel or cyclophosphamide combination treatment in patients with epithelial ovarian cancer and relation to TP53 gene status.