OOIR: Observatory of International Research

Papers

(The TQCC of Human Mutation is 5. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Human Mutation special issue on innovations in genomic diagnostics	149
Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease	82
A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population	70
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	62
A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insig	33
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	32
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	32
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	30
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	28
Molecular Landscape and Predictive Significance of Programmed Cell Death‐Related Genes in Sepsis	27
Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	27
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	26
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	24
In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Dise	24
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics	24
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal Cancer	23
A Tertiary Lymphoid Structure–Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma	23
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	20
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	20
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	20
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	19
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	18
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	18
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	18
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	18

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Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	17
Single‐Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in Endometriosis	17
PiS* and PiZ* Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	17
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	17
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	15
Variations in DNA Repair Genes and Intratumoral Genetic Heterogeneity in Temozolomide‐Resistant Glioblastoma	15
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	14
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	14
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	14
The Role of Inflammatory Factors in the Pathogenesis of Gestational Diabetes Mellitus and May Be Potential Biomarkers for Its Diagnosis and Prognosis	14
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	14
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	13
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	13
Itaconate‐Related Gene Signatures as Prognostic Markers in Colon Cancer: Insights From Transcriptomic and Spatial Analysis	13
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways	13
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	12
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	12
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	12
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	10
Development of a Multiplex Amplification System Using Oxford Nanopore Sequencing for STRs and InDels	10
ALPL Mutations With Dominant‐Negative Effect in Infantile Hypophosphatasia Monozygotic Twins	10
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	10
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	10
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	10
MicroRNA binding site variation is enriched in psychiatric disorders	10
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	10
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	10
Single‐Cell Sequencing and Mendelian Randomization Reveal T Cell Nuclear Factor Genes in Hepatocellular Carcinoma Progression	10
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	9
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNA^Asp Mutation	9
Albiflorin‐Mediated MAP2K1 Targeting and HIF‐1 Signaling Inhibition Contribute to the Therapeutic Efficacy in Hyperuricemia‐Associated Cognitive Impairment	9
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	9
Issue Information	9
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	9
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	9
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Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	8
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	8
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	8
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Back Cover, Volume 43, Issue 7	8
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	8
Management of Paediatric Cancers Associated With Bloom Syndrome	8
Spectrum of F8 Gene Variants in Malaysian Patients With Severe Hemophilia A: Discovery of 15 Novel Variants	7
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	7
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	7
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	7
Detection of Rare Thalassemia Variants Using Accurate Circular Consensus Long‐Read Sequencing	7
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	7

Epithelial Cell–Specific Prognostic Signature (FTH1, RIT1, WASL, NDRG2, KIFC3) Stratifies Cervical Cancer Patients and Correlates With Immune Infiltration	7
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	7
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	6
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	6
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	6
PLAC8 Variant‐Informed Multi‐Omics and AI Model for Survival Prediction in Advanced HCC Treated With Radiotherapy Plus Targeted Therapy and PD‐1 Inhibitors	5
P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance	5
Glucokinase Regulatory Protein (GCKR) Links Metabolic Reprogramming With Immune Exclusion: Insights From a Pan‐Cancer Analysis and Gastric Cancer Validation	5
X;7 Translocation at p21.1 and q31.31 Disrupting DMD : A Multiomics Study of a Male Dystrophinopathy Case	5
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	5
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	5
Multiomics Reveals an IL‐18–A2M Inflammatory Network Linking Coronary Heart Disease to NSCLC Progression	5
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	5
Multimodal Analysis Reveals Immune Suppression Associated With Hepatocellular Carcinoma Related to RBM27 and Constructs a Prognostic Model	5
Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European Populations	5
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	5
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	5
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	5
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	5