OOIR: Observatory of International Research

Papers

(The TQCC of Human Mutation is 2. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-06-01 to 2026-06-01.)

Article	Citations
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population	150
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	83
Molecular Landscape and Predictive Significance of Programmed Cell Death‐Related Genes in Sepsis	70
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	63
Multiomics Analysis of Nucleotide Metabolism Highlights the Important Role of Adenylate Kinase 4 in Pancreatic Cancer	36
A Propionate Metabolism‐Based Gene Signature Reveals Immunogenomic and Transcriptomic Determinants of Prognosis in Glioblastoma Through Multiomics Integration	33
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	32
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insig	30
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	29
Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease	29
Human Mutation special issue on innovations in genomic diagnostics	27
TRMT10A ‐Related Neurodevelopmental Disorder Without Metabolic Findings	24
A Mitoxyperilysis‐Related Single‐Cell and Machine‐Learning Framework Defines an Immune‐Cold Melanoma Phenotype and a Robust Prognostic Signature	24
From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI Integration	24
Study on the Mechanism of Hearing Loss Induced by USH2A Gene Knockout	23
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	23
HSPB6: A Potential Prognostic Biomarker, Inhibiting the Epithelial–Mesenchymal Transition (EMT) Process Through the PI3K/Akt Signaling Pathway Based on the Machine Learning and Experimental Validation	21
A Single‐Cell Multiomics Pipeline Maps YBX1 as a Functional Biomarker for Immune Evasion and Therapeutic Resistance in Prostate Adenocarcinoma	20
Integrative Systems Biology and Experimental Validation Unveil GALNT14 as a Novel Diagnostic Biomarker and Therapeutic Target for Sepsis	18
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal Cancer	18
In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Dise	18
A Tertiary Lymphoid Structure–Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma	18
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	18
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics	17
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	16

Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	16
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	15
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	15
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	15
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	14
	14
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	13
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	13
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	13
Single‐Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in Endometriosis	12
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	12
Multiomics Identification of Radioresistance‐Associated Biomarkers and Prognostic Model Construction in Rectal Cancer	11
Integrative Single‐Cell and Spatial Transcriptomics Reveal Organelle Stress–Associated Heterogeneity and Immune Microenvironment Remodeling in Lung Adenocarcinoma	11
Integrating Bulk and Single‐Cell RNA‐Seq Reveals Glycolysis‐Associated Macrophages and Its Related Tumor Subgroup Signatures to Predict Prognosis and Therapy in Clear Cell Renal Cell Carcinoma	10
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	10
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	10
PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	10
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	10
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	10
The Role of Inflammatory Factors in the Pathogenesis of Gestational Diabetes Mellitus and May Be Potential Biomarkers for Its Diagnosis and Prognosis	10
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	10
Whole‐Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)–Advanced Colorectal Cancer	10
Variations in DNA Repair Genes and Intratumoral Genetic Heterogeneity in Temozolomide‐Resistant Glioblastoma	10
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	10
CENPA as a Genome Stability–Associated Biomarker in Hepatocellular Carcinoma: Multiomics Analysis and Experimental Validation	9
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	9
Convergent Immune–Coagulation Programs Underlie Gastrointestinal Bleeding Risk in Portal Vein Tumor Thrombosis–Associated Hepatocellular Carcinoma and Portal Hypertension	9
Itaconate‐Related Gene Signatures as Prognostic Markers in Colon Cancer: Insights From Transcriptomic and Spatial Analysis	9
A Cuproptosis–Glycolysis Signature Predicts Prognosis and Highlights AURKA as a Therapeutic Target in ccRCC	9
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways	9
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	8
MicroRNA binding site variation is enriched in psychiatric disorders	8
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	8
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	8
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	8
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	8
Single‐Cell Sequencing and Mendelian Randomization Reveal T Cell Nuclear Factor Genes in Hepatocellular Carcinoma Progression	7
ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins	7
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	7
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	7
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	7
Development of a Multiplex Amplification System Using Oxford Nanopore Sequencing for STRs and InDels	7
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	6
Integrated Bulk and Single‐Cell Transcriptomic Analysis Reveals Xenobiotic Metabolism Genes Drive Progression From Liver Cirrhosis to Hepatocellular Carcinoma	6
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	6
Clinically Translatable Mutation‐Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study	6
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	5
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNA^Asp Mutation	5
Ubiquitination‐Associated Ductal–Fibroblast Crosstalk Shapes Tumor Progression and Prognosis in Pancreatic Ductal Adenocarcinoma	5
A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7	5

CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	5
Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune–Metabolic Crosstalk in Triple‐Negative Breast Cancer	5
Management of Paediatric Cancers Associated With Bloom Syndrome	5
Issue Information	5
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	5
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	5
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	4
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	4
Albiflorin‐Mediated MAP2K1 Targeting and HIF‐1 Signaling Inhibition Contribute to the Therapeutic Efficacy in Hyperuricemia‐Associated Cognitive Impairment	4
Back Cover, Volume 43, Issue 7	4
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	4
	4
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	4
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	4
	4
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing	3
Epithelial Cell–Specific Prognostic Signature (FTH1, RIT1, WASL, NDRG2, KIFC3) Stratifies Cervical Cancer Patients and Correlates With Immune Infiltration	3
Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Ther	3
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	3
Spectrum of F8 Gene Variants in Malaysian Patients With Severe Hemophilia A: Discovery of 15 Novel Variants	3
Novel Variants in the SLC16A2 Gene Associated With Allan–Herndon–Dudley Syndrome in China	3
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	3
Glucokinase Regulatory Protein (GCKR) Links Metabolic Reprogramming With Immune Exclusion: Insights From a Pan‐Cancer Analysis and Gastric Cancer Validation	3
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	3
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	3
Construction of a Diagnostic Model and Drug Prediction for Postischemic Stroke Cognitive Impairment Based on Machine Learning Screening of Lactate Metabolism– and Pyroptosis‐Related Genes	3
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	3
Issue Information	2
X;7 Translocation at p21.1 and q31.31 Disrupting DMD : A Multiomics Study of a Male Dystrophinopathy Case	2
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	2
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	2
Exploring the Role of HNRNPA3 in Breast Cancer Progression, Immune Microenvironment, and Therapeutic Sensitivity: A Multiomics and Functional Prediction	2
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	2
Systematic Pathway Screening via Integrated Machine Learning Identifies FOXO‐Mediated Transcription Signature for Robust Immunotherapy Response Prediction in Non–Small Cell Lung Cancer	2
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome	2
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients	2
Integrative Mendelian Randomization and Multiomics Analysis Identifies CAF‐Derived Complement Factor B as a Prognostic Biomarker and Therapeutic Vulnerability in Breast Cancer	2
Integrative Multiomics Analysis Reveals Tumor‐Associated Macrophage Heterogeneity and a Prognostic Signature in Gastric Cancer	2
Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European Populations	2
P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance	2
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	2
PLAC8 Variant‐Informed Multi‐Omics and AI Model for Survival Prediction in Advanced HCC Treated With Radiotherapy Plus Targeted Therapy and PD‐1 Inhibitors	2
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	2
Integrative Multiomics and Single‐Cell Analyses Identify FKBP10 as a Predictor of Radiotherapy Outcome in Colorectal Cancer	2
Mutation update: The spectra of PLEC sequence variants and related plectinopathies	2
Human Mutation special issue on “Variant Effect Prediction"	2
	2
Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic Model	2
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants	2
Multiomics Reveals an IL‐18–A2M Inflammatory Network Linking Coronary Heart Disease to NSCLC Progression	2
Periostin Safeguards EGFR‐Driven Genomic Instability and Sustains the Immune‐Suppressive Niche in Glioblastoma	2
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	2
Identification of a Germline XAF1 Mutation in Patients With Gastrointestinal Cancers	2
Corrigendum to “Functional Analysis of Complex Structural and Splice‐Altering Variants in the ARSB Gene Towards the Personalized Antisense‐Based Therapy for Mucopolysaccharidosis Type VI Patients”	2
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient	2