Human Mutation

Article	Citations
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	128
Human Mutation special issue on innovations in genomic diagnostics	71
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	66
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	62
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	61
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	58
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	54
Development of Novel PANoptosis‐Related Gene Signatures to Predict the Prognosis of Patients With Stomach Adenocarcinoma	50
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	42
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	39
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	31
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	31
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	29
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	29
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Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	28
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	26
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	26
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	26
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	25
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	22
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	22
Pi*S and Pi*Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	21
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	21
The Role of Inflammatory Factors in the Pathogenesis of Gestational Diabetes Mellitus and May Be Potential Biomarkers for Its Diagnosis and Prognosis	21

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	21
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	21
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	19
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	19
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	18
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	18
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	17
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	17
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	17
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	17
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	17
MicroRNA binding site variation is enriched in psychiatric disorders	17
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	17
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	17
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	17
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	17
Metabolic and Immune Adaptations in Preterm Neonates at Early Postnatal Period: Integrated Analysis of Key Metabolites and Pathways	16
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	16
Issue Information	15
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	15
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	15
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	15
Management of Paediatric Cancers Associated With Bloom Syndrome	15
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	15
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	15
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp Mutation	14
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	14
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	13
Variant interpretation: UCSC Genome Browser Recommended Track Sets	13
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	13
Back Cover, Volume 43, Issue 7	13
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	12
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	12
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	12
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	12
Machine learning models for accurate prioritization of variants of uncertain significance	12
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	12
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	11
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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	11
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	10
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	10
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	10
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	10
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	10
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	10
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	10
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	10
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	9
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	9

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	9
Glucokinase Regulatory Protein (GCKR) Links Metabolic Reprogramming With Immune Exclusion: Insights From a Pan‐Cancer Analysis and Gastric Cancer Validation	9
Issue Information	9
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	9
Issue Information	9
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	9
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	9
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	9
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”	8
Issue Information	8
Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European Populations	8
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	8
Mutation update: The spectra of PLEC sequence variants and related plectinopathies	8
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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	8
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants	8
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review	8
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient	8
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients	8
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	8
Re‐evaluation of missense variant classifications in NF2	8
Human Mutation special issue on “Variant Effect Prediction"	8
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Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations	7
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking	7
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	7
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	7
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome	7
PhenomeCentral: 7 years of rare disease matchmaking	7
Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe‐Based Melting Curve Analysis	7
AIF1L as a Ferroptosis‐Linked Biomarker in Microsatellite States–Driven Colorectal Cancer: Functional and Diagnostic Insights From Multiomics Analysis	7
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma	7
seqr : A web‐based analysis and collaboration tool for rare disease genomics	7
In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	7
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	7
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	7
Clinical exome sequencing—Mistakes and caveats	6
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The human ATP‐binding cassette (ABC) transporter superfamily	6
DNAH14 variants are associated with neurodevelopmental disorders	6
Issue Information	6
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing	6
Stem Cell–Related Gene CALR as a Novel Prognostic Factor for Bladder Cancer: Implications for Immunotherapy	6
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft	6
Issue Information	6
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	6
Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) Mutation	6
BST2 Drives Epithelial Ovarian Cancer Progression via Macrophage M2 Polarization, Neural Remodeling, and Immunosuppressive Microenvironment Formation	5
A Cell‐Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants	5
Whole Genome Sequencing Improves the Identification of Pathogenic and Novel Variation in Nonsyndromic Hearing Loss	5
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Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia	5
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	5
Insights Into the Pathological Glycosylation Associated With COG6‐CDG	5
Issue Information	5
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management	5
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	5
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China	5
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Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric Analysis	4
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	4
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	4
A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant	4
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data	4
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Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation	4
Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency	4
FLLL31 Induces Apoptosis via the FOXO4/BCL6 Axis to Inhibit Bladder Cancer Progression	4
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus	4
TCIRG1 as a Novel Prognostic Biomarker Triggering Immune Infiltration in Renal Clear Cell Carcinoma: An Integrative Study of Single‐Cell and Bulk Data	3
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy	3
Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and c	3
Cover, Volume 43, Issue 2	3
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)	3
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases	3
Rapid genome sequencing for pediatrics	3
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases	3
Correction to “Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity”	3
BCL6 , DUSP3 , and IL6R Are Identified as Shared Druggable Immune‐Regulatory Ax	3
The impact of GeneMatcher on international data sharing and collaboration	3

Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis	3
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association	3
WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly	3
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency	3
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex	3
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars	3
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants	2
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	2
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	2
Comparative Analysis of FUT1 and FUT2 Haplotype Diversity in Multi‐Ethnic Populations Via Long‐Read Sequen	2
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population	2
Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length	2
A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers	2
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer	2
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	2
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	2
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Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency	2
Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism	2
Bayesian Optimization–Enhanced Machine Learning for Osteosarcoma Risk Stratification Based on Sphingolipid Metabolism	2
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease	2
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain	2
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants re	2
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	2