ReviewHuman genetics2017
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Review in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 750 papers, 3 of them syntheses that pooled it.
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
750 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.Human genomics · 2024Pooled it
- Novel ancestry-specific primary open-angle glaucoma loci and shared biology with vascular mechanisms and cell proliferation.Cell reports. Medicine · 2024Pooled it
- New insights in the genetic variant spectrum of SLC34A2 in pulmonary alveolar microlithiasis; a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Gender-specific cardiac features in Andersen-Tawil syndrome: a comprehensive meta-analysis of case reports and series.Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacing · 2026Article
- Mutation Spectrum and Novel Rare Variants in a Han Chinese Hearing Loss Cohort Using a Tiered Sequencing Strategy.Molecular genetics & genomic medicine · 2026Article
- Clinical and genetic spectrum of distal renal tubular acidosis in children: findings from Indian tubular disorders registry.Pediatric nephrology (Berlin, Germany) · 2026Article
- Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.Nature communications · 2026Article
- Multi-Omics Analysis of the Effects ofInternational journal of molecular sciences · 2026Article
- Novel Compound Heterozygous Variants inJournal of clinical medicine · 2026Article
- Genetic landscape of phenylketonuria in Brazil.Orphanet journal of rare diseases · 2026Article
- Congenital and infantile nephrotic syndrome: genotype-phenotype associations.Pediatric research · 2026Article
- The Shape of Things to Come: α-Helical Membrane Protein Folding on the Ribosome.Chemical reviews · 2026Review
- Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.Annals of neurology · 2026Article
- Structural basis of chondroitin sulfate backbone polymer synthesis.Nature communications · 2026Article
- Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population.Blood advances · 2026Article
- Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.Acta neuropathologica communications · 2026Article
- Rare T-box variants in adult pulmonary arterial hypertension with congenital heart disease.Journal of applied genetics · 2026Article
- Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study ofJIMD reports · 2026Article
- RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease.Annals of clinical and translational neurology · 2026Article
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
690 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
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Human Gene Mutation Database (HGMD
Indexed as
Identifiers
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.