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 104

System / cell line: family ✕ Assay: clinical ✕ Clear

Hybrid sequencing reveals incompleteness of the H37Rv reference genome and highlights lineage-specific genomic divergence in Mycobacterium tuberculosis.

PMID 42224013 · PMC13225438 · Microbial genomics · 2026 · 8 claims · 6 setups

Full-text index only

The H37Rv_ref reference genome, sequenced in 1998 with early technology, is incomplete relative to modern hybrid-sequenced assemblies

tuberculosis h37rv_cn a2018772 publicly hybrid comparative functional
Utah's Family High Risk Program: bridging the gap between genomics and public health.

PMID 15888235 · PMC1327718 · Preventing chronic disease · 2005 · 8 claims · 6 setups

Full-text index only

Collection of family history through the Family High Risk Program (FHRP) is a cost-effective method for identifying and intervening with high-risk populations for chronic disease

high high-risk fhrp health family-based satisfaction
Nonsense mutation in the CRYBB2 gene causing autosomal dominant progressive polymorphic congenital coronary cataracts.

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

Full-text index only

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

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

Full-text index only

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

Full-text index only

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
Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

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

Full-text index only

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
A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

PMID 17392686 · PMC2642918 · Molecular vision · 2007 · 8 claims · 5 setups

Full-text index only

A novel COL1A1 nonsense mutation (Q644X, C2464T in exon 36) causes osteogenesis imperfecta type I in this Chinese family

patients family genomic clinical microsatellite two-point
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

Full-text index only

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
Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.

PMID 15888216 · PMC1327699 · Preventing chronic disease · 2005 · 8 claims · 6 setups

Full-text index only

Family history is the most consistent risk factor for almost all human diseases across the lifespan.

adults care utah epidemiologic national observational population-based
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

PMID 17100996 · PMC2714973 · Clinical genetics · 2006 · 6 claims · 6 setups

Full-text index only

RSK2(RPS6KA3) mutations can present with a mild or atypical Coffin-Lowry phenotype overlapping clinically with nonsyndromic X-linked mental retardation

blood-derived affected unaffected population mutation clinical segregation
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

PMID 16981987 · PMC1592085 · BMC medical genetics · 2006 · 8 claims · 6 setups

Full-text index only

Mutations were identified in 64 of 84 (76%) TSC probands, comprising 9 TSC1 and 55 TSC2 mutations

genomic pcr-amplified tsc healthy dhplc direct pcr
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

PMID 19093007 · PMC2603185 · Molecular vision · 2008 · 7 claims · 5 setups

Full-text index only

A novel mutation (1666 A>G, exon 15, S556R) in BBS7 causes BBS in this Chinese family

at-risk eyes blood bbs7 clinical ophthalmologic genetic
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
Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

PMID 19753314 · PMC2742641 · Molecular vision · 2009 · 8 claims · 8 setups

Full-text index only

Compound heterozygosity for two distinct MFRP mutations (a novel nonsense mutation and a recurrent frameshift mutation) causes the nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen complex in this sibling pair

patients eyes genomic ophthalmological a-mode electroretinogram
Cone-rod dystrophy and a frameshift mutation in the PROM1 gene.

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

Full-text index only

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
MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

PMID 15528791 · PMC3839337 · Disease markers · 2004 · 8 claims · 5 setups

Full-text index only

MSI (or immunohistochemistry) testing applied to a pre-selected patient with a family history or early-onset colorectal cancer can distinguish HNPCC from unknown non-HNPCC colorectal cancer syndromes.

population-based swedish colorectal hnpcc clinical histopathological microsatellite
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

PMID 18587493 · PMC2435161 · Molecular vision · 2008 · 6 claims · 4 setups

Full-text index only

A heterozygous c.262C>A mutation in GJA8 (connexin 50), causing p.P88Q, is associated with a novel 'balloon-like' cataract phenotype with prominent Y-sutural opacities in an Indian family.

lens family genomic clinical family pcr
Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

PMID 19668597 · PMC2722712 · Molecular vision · 2009 · 7 claims · 4 setups

Full-text index only

A heterozygous MYOC mutation c.1109C>T (P370L) in exon 3 cosegregates with disease, present in all 6 affected members and absent in asymptomatic members.

genomic patients pcr clinical genomic
COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

PMID 15756302 · PMC2673054 · European journal of human genetics : EJHG · 2005 · 8 claims · 4 setups

Full-text index only

COMP mutations were identified in 78% of families referred with PSACH

genomic sequence subset pcr bidirectional sequence
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.

PMID 18334946 · PMC2255026 · Molecular vision · 2008 · 8 claims · 4 setups

Full-text index only

A novel heterozygous c.134G→C change in GJA8, causing p.W45S, was identified as the disease-associated mutation in the affected family

genomic patients ethnically connexin50 bidirectional clinical sanger

Experiments

Hybrid sequencing reveals incompleteness of the H37Rv reference genome and highlights lineage-specific genomic divergence in Mycobacterium tuberculosis.

Utah's Family High Risk Program: bridging the gap between genomics and public health.

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

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.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family.

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

Genomics and the prevention and control of common chronic diseases: emerging priorities for public health action.

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.

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

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

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

MSI test to distinguish between HNPCC and other predisposing syndromes -- of value in tailored surveillance.

A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin.

Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.

A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin.