Human Mutation

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
Genome‐Wide Cross‐Trait Analysis Dissects the Shared Genetic Architecture Between Type 2 Diabetes Mellitus and Metabolic Dysfunction–Associated Steatotic Liver Disease	29
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	29
Human Mutation special issue on innovations in genomic diagnostics	27
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
TRMT10A ‐Related Neurodevelopmental Disorder Without Metabolic Findings	24
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	23
Study on the Mechanism of Hearing Loss Induced by USH2A Gene Knockout	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
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
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
Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics	17
Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	16

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	16
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
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	15
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	14
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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
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	13
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	12
Single‐Cell Transcriptomic Profiling and Machine Learning Integration Unveil Stromal Cell Heterogeneity in Endometriosis	12
Integrative Single‐Cell and Spatial Transcriptomics Reveal Organelle Stress–Associated Heterogeneity and Immune Microenvironment Remodeling in Lung Adenocarcinoma	11
Multiomics Identification of Radioresistance‐Associated Biomarkers and Prognostic Model Construction in Rectal Cancer	11
Pi*S and Pi*Z 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
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
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
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
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
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
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
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
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
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	6
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
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	5
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp Mutation	5
Ubiquitination‐Associated Ductal–Fibroblast Crosstalk Shapes Tumor Progression and Prognosis in Pancreatic Ductal Adenocarcinoma	5
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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	4
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	4
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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
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
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
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
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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
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
Acetylated Pyrimidine Metabolism Genes as Prognostic Markers and Their Influence on Immune Profiles in Lung Adenocarcinoma	1
Cholesterol Reprograms Oxysterol Metabolism via the LOX1/CH25H/CYP7B1 Signaling Axis to Drive Multidrug Resistance in Colorectal Cancer	1
A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant	1
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	1
Identification of a Novel VLDLR Variant in the First Report of CAMRQ1 From Africa: Expanding the Spectrum of Cerebellar Ataxia Syndromes	1
Deubiquitination of ETV4 by USP7 Promotes NSCLC Tumorigenesis via MAPK7 Activation	1
Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) Mutation	1
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma	1
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss	1
RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics	1
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Stem Cell–Related Gene CALR as a Novel Prognostic Factor for Bladder Cancer: Implications for Immunotherapy	1
Issue Information	1
Multiomics and Genomic Alteration Characterization Identifies VDAC1 as a Mitochondrial‐Associated Biomarker in Pancreatic Cancer	1
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals	1
Issue Information	1
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	1
TMEM106C, BSG, COPE, CDCA8, KPNA2, LIG1, UQCRH, and CCT5: Predictive of Survival and Immunotherapy Resistance in Hepatocellular Carcinoma	1
Immunomodulatory Roles and Clinical Significance of GZMM and DDX24 in Sepsis: A Multiomics Integrative Analysis With Experimental Validation	1
BST2 Drives Epithelial Ovarian Cancer Progression via Macrophage M2 Polarization, Neural Remodeling, and Immunosuppressive Microenvironment Formation	1
NARS1 Enhances HCC Proliferation by Stimulating NF‐ κ B Signaling Pathway	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
STIM1 as an Early Predictive Biomarker for Acute Respiratory Distress Syndrome (ARDS) and Its Potential Mechanisms	1
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations	1

Insights Into the Pathological Glycosylation Associated With COG6‐CDG	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
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SELL Marks an Effector‐Deficient CD8 + T Cell Subset That Promotes Intracerebral Hemorrhage and Responds to Rutin Therapy	1
Role of Macrophage‐Related Genes GAS7 and ZEB2 in Acute Myocardial Infarction Pathogenesis	1
Causal Relationships Between Plasma Metabolites, Inflammatory Factors, and Oral Cancer Risk: A Comprehensive Mendelian Randomization Study With Mediation Analysis	1
Characterization of Copy Number Variants in Hereditary Cancer Patients Through NGS Shows a Distinctive PALB2 Contribution to the Diagnostic Yield	1
Variant‐to‐Biomarker Integration and Mechanistic Validation Identify CES1 as a Copy Number‐Linked Predictor of Radiotherapy Response in Rectal Cancer	1
Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia	1
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review	1
A Cell‐Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants	1
SIRT3 Regulates HMGCS2 Deacetylation and Influences Cholangiocarcinoma Progression via the Metabolism of Ketone Bodies	1
Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines	1
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	1
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management	1
Revealing the Action Mechanism of Exogenous Hydrogen Sulfide Intervention in Colorectal Cancer Pathogenesis Based on Multiomics Analysis and Experimental Validation	1
The human ATP‐binding cassette (ABC) transporter superfamily	1
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	1
A Pan‐Cancer Atlas of TIPE2 Identifies Its Association With the Tumor Immune Microenvironment, Prognosis, and Immunotherapeutic Potential	1
Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe‐Based Melting Curve Analysis	1
IPO9 Promotes Ovarian Cancer Progression by Suppressing HMOX1‐Dependent Ferroptosis	1
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	1
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation	1
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study	0
Correction to “Genotype–phenotype correlations in individuals with pathogenic RERE variants”	0
A Homozygous Frameshift Mutation in GREB1 Leads to Female Infertility	0
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy	0
Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder	0
ALOX5 Expression and Pathomics Features Reveal New Insights Into Lung Adenocarcinoma Prognosis: Model Construction and Functional Validation	0
Better and faster is cheaper	0
Causal Mediation of Immune Cells and Fatty Acids in Coronary Atherosclerosis: Insights From Mendelian Randomization Analysis	0
Integrative Multiomics Analysis Identifies HK2 as a Key Regulator of Metabolic Reprogramming in Hepatic Stellate Cells	0
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing	0
Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666 PDGFRB Variants and Their Role in Downstream Signaling	0
de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project	0
PLSCR3 Deficiency Triggers mtDNA‐Driven cGAS‐STING Activation to Potentiate Antitumor Immunity in Colorectal Cancer	0
Integrated Radiomics Model Combining Diffusion Kurtosis Imaging and Dynamic Contrast‐Enhanced MRI for Predicting TERT Promoter Mutation Status in Gliomas	0
RETRACTION: “Differential Effects of AKT1(p.E17K) Expression on Human Mammary Luminal Epithelial and Myoepithelial Cells”	0
YIF1B Mutational Dysregulation Drives Cutaneous Melanoma Progression by Remodeling the TME	0
Identification of Novel Modifier Genes Associated With Pain in Cystic Fibrosis: An In Silico Gene Discovery	0
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach	0
Decoding Pathogenic Mutational Landscapes in Alzheimer′s Disease Through Integrated Transcriptomics	0
Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs∗41) by W	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
CIC missense variants contribute to susceptibility for spina bifida	0
Bifidobacterium breve Promotes the Pathogenesis of IBS by Downregulating the Expression of Ferroptosis‐Related Molecule ERBB1: A Mendelian Randomization Mediation Analysis	0
A survey of current methods to detect and genotype inversions	0
Identification of Enzalutamide‐Related Genes for Prognosis and Immunotherapy in Prostate Adenocarcinoma	0
Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependencies	0
Front Cover, Volume 43, Issue 9	0
Whole‐Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion	0
M1 Macrophage is a Novel Potential Trigger for Endothelial Senescence: Role of Exosomal miR‐155 Targeting SOCS1 Signal	0
Targeting the Vim–PGI 2 Pathway Enhances CD8 + T Cell‐Mediated Antitumor Immunity in Breast Cancer	0
Multiomics Identifies Potential Biomarkers in Ankylosing Spondylitis Bone Formation	0
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones	0
Enhanced ICOS Signaling Between Dendritic Cells and T Cells Characterizes the Immune Landscape of Human Cholangiocarcinoma	0
Integrative Mendelian Randomization and Single‐Cell Pseudotime Analysis Reveal DKK3 as a PI3K–AKT‐Modulated Driver of Esophageal Squamous Cell Carcinoma	0
Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy	0
Pathophysiological Significance of Variants of the HAND1 Gene Promoter in Congenital Atrial Septal Defects: A Study in 632 Chinese Subjects	0
Variant‐to‐Biomarker Pathways in Peripheral Artery Disease: Multiomics Integration and Clinical Translation	0
Destabilization of mutated human PUS3 protein causes intellectual disability	0
Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments	0
Benchmarking of univariate pleiotropy detection methods applied to epilepsy	0
Gene Mutation Characteristics and Prognostic Significance in Acute Myeloid Leukemia Patients From Northeast China	0
Correction to “Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Develo	0
Prediction of Immunotherapy Response and Prognostic Outcomes for Patients With Ovarian Cancer Using PANoptosis‐Related Genes	0
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing	0
Functional Analysis of 3′UTR Variants at the LDLR and	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
Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q	0
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy	0
KBTBD13 is a novel cardiomyopathy gene	0
Secretory Lysosome‐Related Gene Signature Defines the Immune Microenvironment and Identifies RGS2 as a Prometastatic Factor in Hepatocellular Carcinoma	0
Targeting LY6E Inhibits Neuroblastoma Progression and Suppresses M2 Macrophage Polarization	0
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	0
Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions	0
GGPS1 Promoter Variant (rs3806394) Is Associated With Larger Simple Renal Cysts via Reduced GGPPS Expression	0
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition	0
Vimentin Regulates Alternative Polyadenylation and mTOR Signaling via ARVCF to Promote B Cell Lymphoma Progression	0
Multiple mechanisms contribute to the phenotypic effects of synonymous variants	0
Single‐Cell RNA‐Seq Recognized Key Genes for Metastasis and Macrophage Infiltration in Colorectal Cancer	0
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease	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
Buyang Huanwu Decoction Alleviates Chronic Intermittent Hypoxia–Induced Myocardial Inflammation and Fibrosis via the NF‐ κ B/LOX Signaling Pathway	0
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review	0
GLUT1 rs1385129G>A Raised the Risk and Poor Prognosis of Lung Cancer: A Case‐Control Study	0
A Spatially Constrained Fibroblast–Myeloid Program Associates With Immune Exclusion and Poor Prognosis in Lung Adenocarcinoma	0
Exploring Therapeutic Targets for Preventing Cardiac Arrest by Modulating Dyslipidemia and 25‐Hydroxyvitamin D Metabolism: A Mendelian Randomization Study	0
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17	0
Multiomics Integration Reveals Genetic, Metabolic, and Microbial Signatures of Crohn′s Disease	0
Key Genes Associated With Functional Specialization of Neonatal Peripheral Monocytes	0
Multiomic Landscape Uncovers TRMT112 as a Central Driver of HPV‐Positive Head and Neck Squamous Cell Carcinoma	0
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy	0