Human Mutation

Article	Citations
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	399
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	97
Human Mutation special issue on innovations in genomic diagnostics	53
Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	53
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	52
Issue Information	47
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	47
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	43
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	42
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	41
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	40
Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	39
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	34
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	34
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	33
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	32
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A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships	28
PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network	28
A domain damage index to prioritizing the pathogenicity of missense variants	26
A family study implicates GBE1 in the etiology of autism spectrum disorder	25
High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing	25
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	24
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit	23
Variant interpretation using population databases: Lessons from gnomAD	22

A Novel Missense Variant of BMPR1A in Juvenile Polyposis Syndrome: Assessment of Structural and Functional Alternations	22
Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy	22
Exonic Deletions and Deep Intronic Variants of the SLC26A4 Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct	21
Pi*S and Pi*Z Alleles of SERPINA1 Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer	21
Functional characterization of a novel TP53RK mutation identified in a family with Galloway–Mowat syndrome	21
Variant‐level matching for diagnosis and discovery: Challenges and opportunities	21
Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : Further insights into the phenotypic spectrum and pathogenic mechanisms	20
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform	20
VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss	20
The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2	19
Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine	19
Long‐Read Sequencing Identified a PKD1 Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA	19
Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu ‐mediated copy number variations at the	19
Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis	19
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG	18
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes	18
Issue Information	17
MicroRNA binding site variation is enriched in psychiatric disorders	17
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel	17
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)	17
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	16
Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes	16
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	16
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	16
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	16
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	15
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	15
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	15
Variant interpretation: UCSC Genome Browser Recommended Track Sets	15
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	15
Machine learning models for accurate prioritization of variants of uncertain significance	14
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	14
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	14
Back Cover, Volume 43, Issue 7	14
The enhancer rare germline variation rs548071605 contributes to lung cancer development	14
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	13
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NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	13
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	13
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	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	13
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	13
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	13
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	13
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	13
Further evidence for de novo variants in SYNCRIP as the cause of a 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	13
Genome sequencing in congenital cataracts improves diagnostic yield	13
Single‐Cell and Spatial Transcriptomics Explore Purine Metabolism–Related Prognostic Risk Model and Tumor Immune Microenvironment Modulation in Ovarian Cancer	13

CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	12
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	12
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	12
Corrigendum	12
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	12
Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel	12
Issue Information	12
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	11
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	11
Issue Information	10
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation	10
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV	10
Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder	10
Issue Information	10
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency	10
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants	10
Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European Populations	10
seqr : A web‐based analysis and collaboration tool for rare disease genomics	9
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes	9
Issue Information	9
Human Mutation special issue on “Variant Effect Prediction"	9
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review	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”	9
Mutation update: The spectra of PLEC sequence variants and related plectinopathies	9
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia	9
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking	9
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COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient	9
Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial	9
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PhenomeCentral: 7 years of rare disease matchmaking	9
Issue Information	9
Re‐evaluation of missense variant classifications in NF2	9
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants	9
Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen‐de Vries syndrome	9
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients	9
Intron Variant Cause DICER1 Syndrome With Pleuropulmonary Blastoma	8
In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	8
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	8
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Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	8
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	8
Clinical exome sequencing—Mistakes and caveats	8
Issue Information	8
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	8
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	8
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	7
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	7
Issue Information	7
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Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	7
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China	7
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families	7
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants	7
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing	7
DNAH14 variants are associated with neurodevelopmental disorders	7
Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia	7
Extending the allelic spectrum at noncoding risk loci of orofacial clefting	7
Issue Information	7
Epidemiological aspects of hereditary fructose intolerance: A database study	7
The human ATP‐binding cassette (ABC) transporter superfamily	7
Variants in CAPN3 Causing Autosomal Dominant Limb–Girdle Muscular Dystrophy Combined With Calpain‐3 Deficiency	6
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	6
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A Novel Germline MUTYH Mutation (p.W156∗) in High‐Grade Astrocytoma, IDH Mutant	6
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	6
WARS1 and SARS1 : Two tRNA synthetases implicated in autosomal recessive microcephaly	6
Global Research Trends and Hotspots in the Role of Cholesterol in Colorectal Cancer: A Bibliometric Analysis	6
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	6
Cover, Volume 42, Issue 11	6
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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 OOEP and NLRP5 identified in infertile patients with early embryonic arrest	6
STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data	6
Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐ DSE ): A detailed and c	6
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases	6
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus	6
A decade of RAD51C and RAD51D germline variants in cancer	6
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity	6
Issue Information	6

Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR	6
Generation and mutational analysis of a transgenic mouse model of humanSRY	6
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases	6
Expanding the phenotypic variability of MORC2 gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy	6
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HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association	6
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation	6
CanVaS: Documenting the genetic variation spectrum of Greek cancer patients	5
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3)	5
Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor	5
The prevalence of HLA‐I LOH in Chinese pan‐cancer patients and genomic features of patients harboring HLA‐I LOH	5
The impact of GeneMatcher on international data sharing and collaboration	5
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency	5
Cover, Volume 43, Issue 2	5
Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars	5
Splicing Analysis of Exonic TSC1 and TSC2 Gene Variants Causing Tuberous Sclerosis Complex	5
Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease	5
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Rapid genome sequencing for pediatrics	5
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency	5
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants	5
Long read sequencing and expression studies ofAHDC1deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism	5
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects	5
Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing	5
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	4
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	4
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	4
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	4
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain	4
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy	4
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening	4
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population	4
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	4
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	4
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	4
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer	4
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	4
Myopathy can be a key phenotype of membrin (GOSR2) deficiency	4