ArticleNature genetics2015
Standardized phenotyping enhances Mendelian disease gene identification.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
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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.
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Who cites it
9 citing papers in PubMed.
- A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility.Human reproduction (Oxford, England) · 2026Article
- Improved phenotypic classification of male infertility to promote discovery of genetic causes.Nature reviews. Urology · 2024Review
- Genomic architecture of fetal central nervous system anomalies using whole-genome sequencing.NPJ genomic medicine · 2022Article
- ABCC9-related Intellectual disability Myopathy Syndrome is a KNature communications · 2019Article
- Article
- Energy metabolism and whole-exome sequencing-based analysis of Sasang constitution: a pilot study.Integrative medicine research · 2017Article
- Concise Review: Induced Pluripotent Stem Cell Research in the Era of Precision Medicine.Stem cells (Dayton, Ohio) · 2017Review
- New insights into the generation and role of de novo mutations in health and disease.Genome biology · 2016Review
- Large-Scale Discovery of Disease-Disease and Disease-Gene Associations.Scientific reports · 2016Article
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole-exome sequencing has revolutionized the identification of genes with dominant disease-associated variants for rare clinically and genetically heterogeneous disorders, but the identification of genes with recessive disease-associated variants has been less successful. A new study now provides a framework integrating Mendelian variant filtering with statistical assessments of patients' genotypes and phenotypes, thereby catalyzing the discovery of novel mutations associated with recessive disease.
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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.