ArticleHuman mutation2015
New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.
Article in Human mutation, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 119 papers.
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Who cites it
119 citing papers in PubMed.
- IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.Human genetics · 2021Trial
- The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.Genome medicine · 2026Article
- A neurocutaneous NaScience advances · 2026Article
- LONP1 Variants Are Associated With Clinically Diverse Phenotypes.Clinical genetics · 2026Article
- A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly.Human genetics · 2026Article
- A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.HGG advances · 2026Article
- Importance and Potential of Rare Disease Research in Pediatric Rheumatology and Beyond: Pushing Frontiers.ACR open rheumatology · 2025Review
- Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.American journal of human genetics · 2025Article
- Systematic phenotype and genotype characterization of Moebius syndrome.Genetics in medicine open · 2025Article
- Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Human genetics · 2024Article
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- Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth.European journal of human genetics : EJHG · 2024Article
- De novo variants identified by trio whole exome sequencing of bladder exstrophy epispadias complex.American journal of medical genetics. Part A · 2024Article
- Anxiety and dysautonomia symptoms in patients with a NaClinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
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- Rare exonicFrontiers in genetics · 2024Article
- Coordination among frequent genetic variants imparts substance use susceptibility and pathogenesis.Frontiers in neuroscience · 2024Article
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
- COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.Human molecular genetics · 2023Article
- X-linked variations inJournal of medical genetics · 2023Article
59 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
Identifying the causative variant from among the thousands identified by whole-exome sequencing or whole-genome sequencing is a formidable challenge. To make this process as efficient and flexible as possible, we have developed a Variant Analysis Module coupled to our previously described Web-based phenotype intake tool, PhenoDB (http://researchphenodb.net and http://phenodb.org). When a small number of candidate-causative variants have been identified in a study of a particular patient or family, a second, more difficult challenge becomes proof of causality for any given variant. One approach to this problem is to find other cases with a similar phenotype and mutations in the same candidate gene. Alternatively, it may be possible to develop biological evidence for causality, an approach that is assisted by making connections to basic scientists studying the gene of interest, often in the setting of a model organism. Both of these strategies benefit from an open access, online site where individual clinicians and investigators could post genes of interest. To this end, we developed GeneMatcher (http://genematcher.org), a freely accessible Website that enables connections between clinicians and researchers across the world who share an interest in the same gene(s).
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