ReviewHuman genetics2020
The Human Gene Mutation Database (HGMD
Review in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 497 papers, 2 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
497 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Multiomics Data Synthesis of FAM83H in Amelogenesis Imperfecta.International dental journal · 2026Pooled it
- Management of individuals with heterozygous germline pathogenic variants in RAD51C, RAD51D, and BRIP1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2025Guideline
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Integrative multi-omics and bioinformatic analysis ofThe Japanese dental science review · 2026Review
- Genetic findings in a Turkish clinical cohort with hereditary Parkinson's disease.Neurogenetics · 2026Article
- Protective TMEM106B-rs3173615 delays age at onset in GRN mutation carriers.Molecular psychiatry · 2026Article
- Insertion or deletion variants in TAF15 exon 15 are genetic factors impacting the prognosis of amyotrophic lateral sclerosis in a Japanese cohort.European journal of human genetics : EJHG · 2026Article
- Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.Journal of applied genetics · 2026Article
- NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease.European journal of human genetics : EJHG · 2026Article
- Estimating the Prevalence of Malignant Hyperthermia Susceptibility Based on CausativeInternational journal of molecular sciences · 2026Article
- Epigenetic regulation and chromatin organization in cystic fibrosis airways.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2026Review
- Article
- Subtyping metabolic dysfunction-associated steatotic liver disease using electronic health record-linked genomic cohorts reveals diverse etiologies and progression.Nature communications · 2026Article
- Cardiac magnetic resonance imaging reveals myocardial fibrosis and systolic dysfunction in mitochondrial trifunctional protein-deficient mice.Disease models & mechanisms · 2026Article
- The prevalence of protein misfolding as a mechanism for hereditary deafness.PLoS genetics · 2026Article
- An Ancient Founder GDF2 Variant Potentially Causes Semi-Dominant Non-Syndromic Pulmonary Arterial Hypertension.Clinical genetics · 2026Article
- From conservation scores to language models: a feature engineering perspective on machine learning for genetic variant interpretation.Briefings in bioinformatics · 2026Review
- Electrophysiological Profiling of Exocytosis during Early-Stage Development of the Zebrafish Lateral Line.eNeuro · 2026Article
- Protein S Levels to Guide Exon-Level Copy Number Variant Analysis ofAnnals of laboratory medicine · 2026Article
- Novel CTNNB1 Gene Variants in Spanish CTNNB1 Syndrome Patients: Clinical and Psychological Manifestations.Journal of autism and developmental disorders · 2026Article
437 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
11 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.