ArticleNature genetics2015
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
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 96 papers, 2 of them syntheses that pooled it.
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Who cites it
96 citing papers in PubMed, 2 syntheses or guidelines pooled it, 162 citations in OpenAlex.
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- A clinical protocol for the detection of comorbidities associated with monogenic causes of male infertility.Human reproduction (Oxford, England) · 2026Article
- Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.Italian journal of pediatrics · 2026Article
- Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.Human genomics · 2026Review
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- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Expanding the Molecular Spectrum ofGenes · 2025Review
- Ensemble and consensus approaches to prediction of recessive inheritance for missense variants in human disease.Cell reports methods · 2024Article
- Can Open Science Advance Health Justice? Genomic Research Dissemination in the Evolving Data-Sharing Landscape.The Hastings Center report · 2024Article
- Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations.Nature genetics · 2024Article
- A Missense Variant inGenes · 2024Article
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- Intrafamily heterooligomerization as an emerging mechanism of methyltransferase regulation.Epigenetics & chromatin · 2024Review
- Improved phenotypic classification of male infertility to promote discovery of genetic causes.Nature reviews. Urology · 2024Review
- Wnt activation disturbs cell competition and causes diffuse invasion of transformed cells through NF-κB-MMP21 pathway.Nature communications · 2023Article
- Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies.Molecular genetics & genomic medicine · 2023Article
36 more citing papers are in PubMed but not listed here.
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Authors and funding
43 authors at 13 institutions in 2 countries.
Funding
Abstract
Discovery of most autosomal recessive disease-associated genes has involved analysis of large, often consanguineous multiplex families or small cohorts of unrelated individuals with a well-defined clinical condition. Discovery of new dominant causes of rare, genetically heterogeneous developmental disorders has been revolutionized by exome analysis of large cohorts of phenotypically diverse parent-offspring trios. Here we analyzed 4,125 families with diverse, rare and genetically heterogeneous developmental disorders and identified four new autosomal recessive disorders. These four disorders were identified by integrating Mendelian filtering (selecting probands with rare, biallelic and putatively damaging variants in the same gene) with statistical assessments of (i) the likelihood of sampling the observed genotypes from the general population and (ii) the phenotypic similarity of patients with recessive variants in the same candidate gene. This new paradigm promises to catalyze the discovery of novel recessive disorders, especially those with less consistent or nonspecific clinical presentations and those caused predominantly by compound heterozygous genotypes.
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