Human Mutation

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
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
A Tertiary Lymphoid Structure–Derived Prognostic Signature Integrates Immune Microenvironment and Mutational Landscapes in Clear Cell Renal Cell Carcinoma	18
In silico Analysis of CHD4 Mutations Reveals Domain‐Specific Impacts on Cardiovascular Disorders Among Patients With Rare Dise	17
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics	15
Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	15
Unraveling Signaling Pathways in Immune Microenvironment Crosstalk to Overcome Immunotherapy Resistance in Colorectal Cancer	14
Comment on “When the Outcome Contains the Exposure: Methodological Limits of a Genome‐Wide Cross‐Trait Analysis of Type 2 Diabetes and MASLD”	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
UBTD1 Drives Ovarian Cancer Progression via Mutation‐Associated Alterations, Stromal Microenvironment Remodeling, and TNF/AP‐1 Signaling	12
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
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	11
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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
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
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
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 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
Whole‐Exome Sequencing to Screen Personal Neoantigens With High Immunogenicity in Patients With Microsatellite Stability (MSS)–Advanced Colorectal Cancer	8
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
CDHR2 c.2233C > T Is Involved in Human Familial Ovarian Immature Teratoma With BMP15 c.262C > T	7
Pi*S and Pi*Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	7
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
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
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
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
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
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
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
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 tRNAAsp Mutation	3
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
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
Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss	1
Deubiquitination of ETV4 by USP7 Promotes NSCLC Tumorigenesis via MAPK7 Activation	1
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	1
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations	1
Identification of a Germline XAF1 Mutation in Patients With Gastrointestinal Cancers	1
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Integrative Mendelian Randomization and Multiomics Analysis Identifies CAF‐Derived Complement Factor B as a Prognostic Biomarker and Therapeutic Vulnerability in Breast Cancer	1
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Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe‐Based Melting Curve Analysis	1
Variant‐to‐Biomarker Integration and Mechanistic Validation Identify CES1 as a Copy Number‐Linked Predictor of Radiotherapy Response in Rectal Cancer	1
Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) Mutation	1
Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders	1
IPO9 Promotes Ovarian Cancer Progression by Suppressing HMOX1‐Dependent Ferroptosis	1
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	1
FCGR2B + Macrophages as a Critical Node Linking Ferroptosis and Immunosuppression: A Multiomics Framework for Prognosis and Therapy in High‐Gr	1
Integrative Genomic Analysis Identifies MAGT1 as a Key Regulator of Proliferation and Poor Prognosis in Breast Cancer	1
Cholesterol Reprograms Oxysterol Metabolism via the LOX1/CH25H/CYP7B1 Signaling Axis to Drive Multidrug Resistance in Colorectal Cancer	1
Revealing the Action Mechanism of Exogenous Hydrogen Sulfide Intervention in Colorectal Cancer Pathogenesis Based on Multiomics Analysis and Experimental Validation	1
Single‐Cell and Multiomics Characterization of p21 in Cancer Progression and Therapeutic Sensitivity	1
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Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review	1
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Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome	1
Integrative Multiomics and Single‐Cell Analyses Identify FKBP10 as a Predictor of Radiotherapy Outcome in Colorectal Cancer	1
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient	1
Immunomodulatory Roles and Clinical Significance of GZMM and DDX24 in Sepsis: A Multiomics Integrative Analysis With Experimental Validation	1
Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines	1
STIM1 as an Early Predictive Biomarker for Acute Respiratory Distress Syndrome (ARDS) and Its Potential Mechanisms	1
Causal Relationships Between Plasma Metabolites, Inflammatory Factors, and Oral Cancer Risk: A Comprehensive Mendelian Randomization Study With Mediation Analysis	1
AIF1L as a Ferroptosis‐Linked Biomarker in Microsatellite States–Driven Colorectal Cancer: Functional and Diagnostic Insights From Multiomics Analysis	1
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft	1
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma	1
A Pan‐Cancer Atlas of TIPE2 Identifies Its Association With the Tumor Immune Microenvironment, Prognosis, and Immunotherapeutic Potential	1

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics	1
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	1
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”	1
Systematic Pathway Screening via Integrated Machine Learning Identifies FOXO‐Mediated Transcription Signature for Robust Immunotherapy Response Prediction in Non–Small Cell Lung Cancer	1
Single‐Cell and Machine Learning Analyses Identify MYDGF as an Immune‐Related Biomarker Associated With the Tumor Microenvironment in Clear Cell Renal Cell Carcinoma	1
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New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	1
NARS1 Enhances HCC Proliferation by Stimulating NF‐ κ B Signaling Pathway	1
SELL Marks an Effector‐Deficient CD8 + T Cell Subset That Promotes Intracerebral Hemorrhage and Responds to Rutin Therapy	1
SRSF1/Mcl‐1 Axis Drives Apoptosis Evasion and Shapes the Immune Microenvironment to Promote Gastric Cancer Progression	1
Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes	1
SIRT3 Regulates HMGCS2 Deacetylation and Influences Cholangiocarcinoma Progression via the Metabolism of Ketone Bodies	1
Stem Cell–Related Gene CALR as a Novel Prognostic Factor for Bladder Cancer: Implications for Immunotherapy	1
A Macrophage/Monocyte‐Related Four‐Gene Signature for Prognostic Assessment of Uveal Melanoma: BTBD6 , C2CD4B	1
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	0
RETRACTION: “Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells”	0
Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China	0
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review	0
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach	0
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependencies	0
Single‐Cell Transcriptomic Analysis Suggests That JUN May Regulate BAMBI to Promote Osteosarcoma Cell Migration and Invasion	0
Novel ALG13 Variants and an Expanded Neurodevelopmental Spectrum: Genotype–Phenotype Correlations	0
Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q	0
Variant‐to‐Biomarker Pathways in Peripheral Artery Disease: Multiomics Integration and Clinical Translation	0
Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study	0
Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery	0
Bioinformatics Combined With Biological Experiments to Explore the Promotion of Lung Metastasis by CCL18 in the Immune Microenvironment of Colorectal Cancer	0
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project	0
Experimental Validation and Bioinformatics Analysis Elucidate the Role of MTDH‐Mediated PTEN Ubiquitination and Degradation in Podocyte Injury in Diabetic Kidney Disease	0
Driver Mutation Subtypes Differentially Shape Immune Evasion Landscapes in Melanoma: An AI‐Driven Inflammatory Pathway Model Implicating CCNE1	0
Prediction of Immunotherapy Response and Prognostic Outcomes for Patients With Ovarian Cancer Using PANoptosis‐Related Genes	0
Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese Subjects	0
Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation	0
Secretory Lysosome‐Related Gene Signature Defines the Immune Microenvironment and Identifies RGS2 as a Prometastatic Factor in Hepatocellular Carcinoma	0
Causal Mediation of Immune Cells and Fatty Acids in Coronary Atherosclerosis: Insights From Mendelian Randomization Analysis	0
Shared cis‐Regulatory Variants at the 15q25 CHRNA3 Locus in Alveolar Macrophages Underlie Asthma–Lung Cancer Susceptibility Through Cholinergic Anti‐Infl	0
Decoding Pathogenic Mutational Landscapes in Alzheimer′s Disease Through Integrated Transcriptomics	0
Functional Analysis of 3′UTR Variants at the LDLR and	0
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy	0
Destabilization of mutated human PUS3 protein causes intellectual disability	0
Targeting the Vim–PGI 2 Pathway Enhances CD8 + T Cell‐Mediated Antitumor Immunity in Breast Cancer	0
KBTBD13 is a novel cardiomyopathy gene	0
Multiomics Integration Reveals Genetic, Metabolic, and Microbial Signatures of Crohn′s Disease	0
PLSCR3 Deficiency Triggers mtDNA‐Driven cGAS‐STING Activation to Potentiate Antitumor Immunity in Colorectal Cancer	0
Vimentin Regulates Alternative Polyadenylation and mTOR Signaling via ARVCF to Promote B Cell Lymphoma Progression	0
Type B Aortic Dissection Following Abdominal Aortic Aneurysm Repair in Loeys–Dietz Syndrome: A Novel TGFBR1 Variant	0
GLUT1 rs1385129G>A Raised the Risk and Poor Prognosis of Lung Cancer: A Case‐Control Study	0
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study	0
Correction to “Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Develo	0
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort	0
NDC80 as a Prognostic Biomarker: Insights From Single‐Cell RNA Sequencing and Machine Learning in Lung Adenocarcinoma	0
Prognostic Stratification and Subtyping of Glioblastoma Using Transient Receptor Potential Channels	0
Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples	0
Exploring Therapeutic Targets for Preventing Cardiac Arrest by Modulating Dyslipidemia and 25‐Hydroxyvitamin D Metabolism: A Mendelian Randomization Study	0
Integrative Genomic and Functional Analysis Reveals NF1 Loss as a Modifier of DNA Damage and Replication Stress Responses in Ovarian Cancer	0
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments	0
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients	0
Integrative Mendelian Randomization and Single‐Cell Pseudotime Analysis Reveal DKK3 as a PI3K–AKT‐Modulated Driver of Esophageal Squamous Cell Carcinoma	0
Front Cover, Volume 43, Issue 9	0
Whole‐Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion	0
Autosomal Dominant Missense DAG1 Variant Linked to Mild–Moderate LGMD R16	0
Novel African American Colorectal Cancer MSH3 Variants Associate With Major Genomic Instability	0
M1 Macrophage is a Novel Potential Trigger for Endothelial Senescence: Role of Exosomal miR‐155 Targeting SOCS1 Signal	0
Enhanced ICOS Signaling Between Dendritic Cells and T Cells Characterizes the Immune Landscape of Human Cholangiocarcinoma	0
A Homozygous Frameshift Mutation in GREB1 Leads to Female Infertility	0
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling	0
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease	0
Targeting LY6E Inhibits Neuroblastoma Progression and Suppresses M2 Macrophage Polarization	0
Buyang Huanwu Decoction Alleviates Chronic Intermittent Hypoxia–Induced Myocardial Inflammation and Fibrosis via the NF‐ κ B/LOX Signaling Pathway	0
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder	0
A Spatially Constrained Fibroblast–Myeloid Program Associates With Immune Exclusion and Poor Prognosis in Lung Adenocarcinoma	0
Diagnostic Yield of Genome Sequencing in an Iranian Exome‐Negative Autosomal‐Recessive Intellectual Disability Cohort	0
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions	0
YIF1B Mutational Dysregulation Drives Cutaneous Melanoma Progression by Remodeling the TME	0
Integrative Multiomics Analysis Identifies a Novel Gene Signature That Predicts Chemotherapy Resistance and Poor Survival in Osteosarcoma	0
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17	0
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing	0
Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases	0
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships	0
Integrated Radiomics Model Combining Diffusion Kurtosis Imaging and Dynamic Contrast‐Enhanced MRI for Predicting TERT Promoter Mutation Status in Gliomas	0
Mutation update for the ACTN2 gene	0
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by W	0
FBXW7‐Related Neurodevelopmental Disorder: Clinical Spectrum, Molecular Mechanisms, and Tumor Predisposition	0
Identification of Enzalutamide‐Related Genes for Prognosis and Immunotherapy in Prostate Adenocarcinoma	0
Exploring the Dynamic Changes of Intercellular Connections in Cervical Cancer: Insights From Transcriptomic Data Combined With Single‐Cell Sequencing	0
Single‐Cell RNA‐Seq Recognized Key Genes for Metastasis and Macrophage Infiltration in Colorectal Cancer	0
ALOX5 Expression and Pathomics Features Reveal New Insights Into Lung Adenocarcinoma Prognosis: Model Construction and Functional Validation	0
From Exposure to Biomarker: Cumulative Tobacco Burden and Integrated Multiomics Signatures of High Tumor Mutational Burden in Lung Adenocarcinoma—A Secondary Analysis of the Cancer Genome Atlas	0
Key Genes Associated With Functional Specialization of Neonatal Peripheral Monocytes	0
Bifidobacterium breve Promotes the Pathogenesis of IBS by Downregulating the Expression of Ferroptosis‐Related Molecule ERBB1: A Mendelian Randomization Mediation Analysis	0
Integrative Multiomics Analysis Identifies HK2 as a Key Regulator of Metabolic Reprogramming in Hepatic Stellate Cells	0
Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy	0
Multiomics and Cohort Validation Identified the Metabolic Link Between Hashimoto′s Thyroiditis and Primary Biliary Cholangitis	0
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition	0
GGPS1 Promoter Variant (rs3806394) Is Associated With Larger Simple Renal Cysts via Reduced GGPPS Expression	0