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	483
Human Mutation special issue on innovations in genomic diagnostics	122
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	65
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	64
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	61
Issue Information	59
Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar	59
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	51
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	51
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	51
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	47
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	41
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	37
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	37
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	34
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PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	31
PAQR4: A Critical Senescence‐Related Gene Influencing Immune Evasion and Metastasis in Bladder Urothelial Carcinoma	31
A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	28
Exploring the Molecular Functions and Immune Relevance of Macrophage‐Associated Genes in Atherosclerosis	27
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation	27
A Nomogram Combining Two Novel Biomarkers for Predicting Lung Adenocarcinoma in Ground‐Glass Nodule Patients	27
Variant interpretation using population databases: Lessons from gnomAD	26
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	26
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	25

Pi*S and Pi*Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	25
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	22
A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	21
The Role of NOL3 in Colon Adenocarcinoma Metastasis and Its Association With DNA Methylation	21
Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity	20
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	20
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	20
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	20
Integration of Immune Cell Signatures and Diagnostic Gene Markers in Pancreatitis: A Comprehensive Study on Therapeutic Targets and Predictive Diagnosis	19
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	19
Metabolic Reprogramming in Colorectal Cancer: The Impact of Fatty Acid Metabolism	18
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	18
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	17
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	17
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	17
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	17
MicroRNA binding site variation is enriched in psychiatric disorders	17
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	17
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	17
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	17
Polycystic Ovary Syndrome May Be Associated With a Novel Mitochondrial tRNAAsp Mutation	16
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	16
Management of Paediatric Cancers Associated With Bloom Syndrome	16
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	16
Issue Information	16
CHD8 Variant and Rett Syndrome: Overlapping Phenotypes, Molecular Convergence, and Expanding the Genetic Spectrum	15
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	15
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	15
Back Cover, Volume 43, Issue 7	15
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	15
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	15
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	15
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	15
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	14
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	14
The enhancer rare germline variation rs548071605 contributes to lung cancer development	14
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	14
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Machine learning models for accurate prioritization of variants of uncertain significance	14
Variant interpretation: UCSC Genome Browser Recommended Track Sets	13
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	13
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	13
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	13
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Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	13
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	13
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	12
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	12
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	12
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	11

NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	11
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	11
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	11
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	11
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	11
Issue Information	11
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	11
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	11
Issue Information	10
Single‐Cell RNA Sequencing Reveals LEF1 as a Prognostic Biomarker for Poor Outcomes in Oxaliplatin‐Resistant Colorectal Cancer	10
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	10
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	10
Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European Populations	9
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	9
Re‐evaluation of missense variant classifications in NF2	9
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	9
Issue Information	9
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	9
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency	9
Human Mutation special issue on “Variant Effect Prediction"	9
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	9
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants	9
Issue Information	9
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review	9
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome	8
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
PhenomeCentral: 7 years of rare disease matchmaking	8
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Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking	8
COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient	8
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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients	8
In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	8
Mutation update: The spectra of PLEC sequence variants and related plectinopathies	8
seqr : A web‐based analysis and collaboration tool for rare disease genomics	8
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial	8
Simultaneous Genotyping of Three Nonsynonymous SNVs, rs1042602, rs1426654, and rs16891982 Involved in Skin Pigmentation by Fluorescent Probe‐Based Melting Curve Analysis	8
Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft	7
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	7
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	7
Issue Information	7
DNAH14 variants are associated with neurodevelopmental disorders	7
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma	7
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	7
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	7
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Clinical exome sequencing—Mistakes and caveats	7
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	7
AIF1L as a Ferroptosis‐Linked Biomarker in Microsatellite States–Driven Colorectal Cancer: Functional and Diagnostic Insights From Multiomics Analysis	7
Issue Information	7
Dilated Cardiomyopathy May Be Associated With a Novel Mitochondrial tRNASer(AGY) Mutation	6
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	6
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	6
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management	6
Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia	6
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	6
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	6
A Cell‐Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants	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
The human ATP‐binding cassette (ABC) transporter superfamily	6
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China	6
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Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation	5
A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant	5
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data	5
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	5
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Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus	5
Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency	5
A decade of RAD51C and RAD51D germline variants in cancer	5
Generation and mutational analysis of a transgenic mouse model of humanSRY	5
Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric Analysis	5
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	5
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Issue Information	5
Correction to “Prognostic Value of Ubiquitination‐Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity”	4
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy	4
TCIRG1 as a Novel Prognostic Biomarker Triggering Immune Infiltration in Renal Clear Cell Carcinoma: An Integrative Study of Single‐Cell and Bulk Data	4
Cover, Volume 43, Issue 2	4
Phenotypic Characterization of ALS‐Causing SOD1 Mutations Affecting Polypeptide Length	4

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	4
Rapid genome sequencing for pediatrics	4
Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and c	4
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases	4
Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor	4
WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly	4
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association	4
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases	4
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency	4
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars	4
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants	4
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex	3
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency	3
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	3
The impact of GeneMatcher on international data sharing and collaboration	3
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer	3
A Novel Missense Variant in Ultrarare SLC35A1‐CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers	3
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease	3
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	3
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	3
Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism	3
Bayesian Optimization–Enhanced Machine Learning for Osteosarcoma Risk Stratification Based on Sphingolipid Metabolism	3
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	3
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	3
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)	3