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 2022-08-01 to 2026-08-01.)

Article	Citations
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population	91
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	73
Molecular Landscape and Predictive Significance of Programmed Cell Death‐Related Genes in Sepsis	69
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	36
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insig	33
A Propionate Metabolism‐Based Gene Signature Reveals Immunogenomic and Transcriptomic Determinants of Prognosis in Glioblastoma Through Multiomics Integration	31
Human Mutation special issue on innovations in genomic diagnostics	31
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	30
TRMT10A ‐Related Neurodevelopmental Disorder Without Metabolic Findings	28
From Variant to Biomarker in NSCLC Immunotherapy Resistance: Multiomics Evidence Chains and Accountable AI Integration	27
A Mitoxyperilysis‐Related Single‐Cell and Machine‐Learning Framework Defines an Immune‐Cold Melanoma Phenotype and a Robust Prognostic Signature	26
Study on the Mechanism of Hearing Loss Induced by USH2A Gene Knockout	23
A Novel Gain‐of‐Function GLUL Variant Is Associated With Developmental and Epileptic Encephalopathy With Enlarged Perivascular Spaces	21
Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease	20
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	19
A Tertiary Lymphoid Structure–Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma	18
Multiomics Analysis of Nucleotide Metabolism Highlights the Important Role of Adenylate Kinase 4 in Pancreatic Cancer	18
Integrative Systems Biology and Experimental Validation Unveil GALNT14 as a Novel Diagnostic Biomarker and Therapeutic Target for Sepsis	18
A Single‐Cell Multiomics Pipeline Maps YBX1 as a Functional Biomarker for Immune Evasion and Therapeutic Resistance in Prostate Adenocarcinoma	18
In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Dise	17
Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	15
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics	15
Comment on “When the Outcome Contains the Exposure: Methodological Limits of a Genome‐Wide Cross‐Trait Analysis of Type 2 Diabetes and MASLD”	14
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal Cancer	14
The Performance of In Silico Prediction Tools for Variant Curation in a Panel of Cancer Genes	13

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	13
Identification of a Novel Founder EYA4 Structural Variant in North America	12
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	12
UBTD1 Drives Ovarian Cancer Progression via Mutation‐Associated Alterations, Stromal Microenvironment Remodeling, and TNF/AP‐1 Signaling	12
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	11
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	10
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	10
Single‐Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in Endometriosis	10
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	10
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Multiomics Identification of Radioresistance‐Associated Biomarkers and Prognostic Model Construction in Rectal Cancer	10
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	10
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	10
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	10
Integrative Single‐Cell and Spatial Transcriptomics Reveal Organelle Stress–Associated Heterogeneity and Immune Microenvironment Remodeling in Lung Adenocarcinoma	10
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	9
Convergent Immune–Coagulation Programs Underlie Gastrointestinal Bleeding Risk in Portal Vein Tumor Thrombosis–Associated Hepatocellular Carcinoma and Portal Hypertension	9
The Role of Inflammatory Factors in the Pathogenesis of Gestational Diabetes Mellitus and May Be Potential Biomarkers for Its Diagnosis and Prognosis	9
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	9
CENPA as a Genome Stability–Associated Biomarker in Hepatocellular Carcinoma: Multiomics Analysis and Experimental Validation	9
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	9
Whole‐Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)–Advanced Colorectal Cancer	8
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	8
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	8
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	8
CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > T	7
PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	7
A Cuproptosis–Glycolysis Signature Predicts Prognosis and Highlights AURKA as a Therapeutic Target in ccRCC	7
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	7
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways	6
Variations in DNA Repair Genes and Intratumoral Genetic Heterogeneity in Temozolomide‐Resistant Glioblastoma	6
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	6
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	6
Immune Cell Profiles and Novel Insights Into Cancer Risk: A Focus on Oral and Pharyngeal Cancer	6
Development of a Multiplex Amplification System Using Oxford Nanopore Sequencing for STRs and InDels	5
ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins	5
Single‐Cell Sequencing and Mendelian Randomization Reveal T Cell Nuclear Factor Genes in Hepatocellular Carcinoma Progression	5
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	5
Itaconate‐Related Gene Signatures as Prognostic Markers in Colon Cancer: Insights From Transcriptomic and Spatial Analysis	5
MicroRNA binding site variation is enriched in psychiatric disorders	4
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	4
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	4
Exploring the Functional Impact of Individual DDX41 Variants With a Fast and Robust Cell‐Based Method	4
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	4
Integrated Bulk and Single‐Cell Transcriptomic Analysis Reveals Xenobiotic Metabolism Genes Drive Progression From Liver Cirrhosis to Hepatocellular Carcinoma	4
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	4
Genetic Links Between Cancer and Coronary Atherosclerosis: A Mendelian Randomization Analysis	4
A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7	4
Clinically Translatable Mutation‐Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study	4
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	4

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	4
Ubiquitination‐Associated Ductal–Fibroblast Crosstalk Shapes Tumor Progression and Prognosis in Pancreatic Ductal Adenocarcinoma	3
Causal Effects and Single‐Cell Microenvironmental Implications of Germline Variant‐Regulated Lactylation‐Related Pro‐Oncogenic Genes in Colorectal Cancer	3
Multiomics Characterization of GCSH + Macrophages Reveals Therapeutic Vulnerabilities and Immune–Metabolic Crosstalk in Triple‐Negative Breast Cancer	3
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	3
Functional Analyses in Patient‐Derived Neurons Establish Pathogenicity for STXBP1 Splice Variant c.429+5G>A	3
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNA^Asp Mutation	3
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	3
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CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	3
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	3
Management of Paediatric Cancers Associated With Bloom Syndrome	3
Albiflorin‐Mediated MAP2K1 Targeting and HIF‐1 Signaling Inhibition Contribute to the Therapeutic Efficacy in Hyperuricemia‐Associated Cognitive Impairment	3
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	3
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VariantAlert: A web‐based tool to notify updates in genetic variant annotations	3
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	2
Cross‐Strand Chimeric RNA Signature Predicts Prognosis and Identifies Tumor Immune Microenvironment Associations in Gastric Cancer	2
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	2
Exploring the Role of HNRNPA3 in Breast Cancer Progression, Immune Microenvironment, and Therapeutic Sensitivity: A Multiomics and Functional Prediction	2
Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic Model	2
COL1A1 and SERPINE1 as Potential Therapeutic Targets in Diabetic Retinopathy: A Study Incorporating RNA Transcriptomics, Single‐Cell RNA Sequencing, and Proteomics	2
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	2
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	2
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	2
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	2
Spectrum of F8 Gene Variants in Malaysian Patients With Severe Hemophilia A: Discovery of 15 Novel Variants	2
Novel ABCG5 and ABCG8 Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Ther	2
Epithelial Cell–Specific Prognostic Signature (FTH1, RIT1, WASL, NDRG2, KIFC3) Stratifies Cervical Cancer Patients and Correlates With Immune Infiltration	2
Periostin Safeguards EGFR‐Driven Genomic Instability and Sustains the Immune‐Suppressive Niche in Glioblastoma	2
X;7 Translocation at p21.1 and q31.31 Disrupting DMD : A Multiomics Study of a Male Dystrophinopathy Case	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
Glucokinase Regulatory Protein (GCKR) Links Metabolic Reprogramming With Immune Exclusion: Insights From a Pan‐Cancer Analysis and Gastric Cancer Validation	2
P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance	2
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	2
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	2
Novel Variants in the SLC16A2 Gene Associated With Allan–Herndon–Dudley Syndrome in China	2
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing	2
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	2
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	2
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	2
Multiomics Analysis Reveals CTHRC1+ CAFs Drive Immunosuppressive Niches and Predict Immunotherapy Resistance 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
Integrative Multiomics Analysis Reveals Tumor‐Associated Macrophage Heterogeneity and a Prognostic Signature in Gastric Cancer	2
Multiomics Reveals an IL‐18–A2M Inflammatory Network Linking Coronary Heart Disease to NSCLC Progression	2
Translating Osteoarthritis Genetic Risk Into Biomarkers: Opportunities, Pitfalls, and Implementation Considerations	2
Identifying Distinct Molecular Subtypes and Establishing a Prognostic Framework for DLBCL Patients via Multiomics Analysis and Machine Learning Approaches	2