ArticleAmerican journal of medical genetics. Part A2021
History of the methodology of disease gene identification.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
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- Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.Genome medicine · 2025Article
- Can social adversity alter the epigenome, trigger oral disease, and affect future generations?Irish journal of medical science · 2024Review
- Decoding the gene-disease associations in type 2 diabetes: A curated dataset for text mining-based classification.Data in brief · 2024Article
- The discovery of archaea: from observed anomaly to consequential restructuring of the phylogenetic tree.History and philosophy of the life sciences · 2024Article
- Discovery of novel genetic syndromes in Latin America: Opportunities and challenges.Genetics and molecular biology · 2024Article
- The genetic cause of neurodevelopmental disorders in 30 consanguineous families.Frontiers in medicine · 2024Article
- Inferring Retinal Degeneration-Related Genes Based on Xgboost.Frontiers in molecular biosciences · 2022Article
- History of the methodology of disease gene identification.American journal of medical genetics. Part A · 2021Article
- Festschrift for Victor A. McKusick on the Centenary of his Birth: Introduction.American journal of medical genetics. Part A · 2021Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The past 45 years have witnessed a triumph in the discovery of genes and genetic variation that cause Mendelian disorders due to high impact variants. Important discoveries and organized projects have provided the necessary tools and infrastructure for the identification of gene defects leading to thousands of monogenic phenotypes. This endeavor can be divided in three phases in which different laboratory strategies were employed for the discovery of disease-related genes: (i) the biochemical phase, (ii) the genetic linkage followed by positional cloning phase, and (iii) the sequence identification phase. However, much more work is needed to identify all the high impact genomic variation that substantially contributes to the phenotypic variation.
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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.