ReviewAmerican journal of human genetics2007
New perspectives for the elucidation of genetic disorders.
Review in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
43 citing papers in PubMed, 124 citations in OpenAlex.
- Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.Genome research · 2011Trial
- Mendelian gene identification through mouse embryo viability screening.Genome medicine · 2022Article
- Rare diseases: human genome research is coming home.Cold Spring Harbor molecular case studies · 2022Article
- Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.Journal of the American Heart Association · 2021Review
- An Omics View of Emery-Dreifuss Muscular Dystrophy.Journal of personalized medicine · 2020Review
- Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.American journal of human genetics · 2019Article
- Genetics of intellectual disability in consanguineous families.Molecular psychiatry · 2019Article
- A de novo t(10;19)(q22.3;q13.33) leads to ZMIZ1/PRR12 reciprocal fusion transcripts in a girl with intellectual disability and neuropsychiatric alterations.Neurogenetics · 2015Article
- Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).Transactions of the American Ophthalmological Society · 2015Article
- Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.The Pan African medical journal · 2015Review
- Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects.World journal of pediatrics : WJP · 2014Article
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- Genomic patterns of homozygosity in worldwide human populations.American journal of human genetics · 2012Article
- High-throughput molecular diagnosis of von Willebrand disease by next generation sequencing methods.Haematologica · 2012Article
- On the future of genetic risk assessment.Journal of community genetics · 2012Article
- Rapid multiplex high resolution melting method to analyze inflammatory related SNPs in preterm birth.BMC research notes · 2012Article
- Mapping DNA quantity into electrophoretic mobility through quantum dot nanotethers for high-resolution genetic and epigenetic analysis.ACS nano · 2012Article
- Human genetics and genomics a decade after the release of the draft sequence of the human genome.Human genomics · 2011Review
- Genetic testing: predictive value of genotyping for diagnosis and management of disease.The EPMA journal · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
For almost 15 years, genome research has focused on the search for major risk factors in common diseases, with disappointing results. Only recently, whole-genome association studies have begun to deliver because of the introduction of high-density single-nucleotide-polymorphism arrays and massive enlargement of cohort sizes, but most of the risk factors detected account for only a small proportion of the total genetic risk, and their diagnostic value is negligible. There is reason to believe that the complexity of many "multifactorial" disorders is primarily due to genetic heterogeneity, with defects of different genes causing the same disease. Moreover, de novo copy-number variation has been identified as a major cause of mental retardation and other complex disorders, suggesting that new mutations are an important, previously overlooked factor in the etiology of complex diseases. These observations support the notion that research into the previously neglected monogenic disorders should become a priority of genome research. Because of the introduction of novel high-throughput, low-cost sequencing methods, sequencing and genotyping will soon converge, with far-reaching implications for the elucidation of genetic disease and health care.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.