Human Mutation

Article	Citations
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	296
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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	65
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Human Mutation special issue on innovations in genomic diagnostics	41
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In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	37
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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	29
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	28
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis	27
Better and faster is cheaper	26
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain	26
GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases	25
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	25
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study	23
Myopathy can be a key phenotype of membrin (GOSR2) deficiency	23
Integrated in silico and experimental assessment of disease relevance of PCDH19  missense variants	22
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	22
A global analysis of the reconstitution of PTEN function by translational readthrough ofPTENpathogenic premature termination codons	22
Clinical exome sequencing—Mistakes and caveats	22

Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	21
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis	20
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	20
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy	20
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	19
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening	19
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2	18
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	17
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	17
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Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	17
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	16
Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes	16
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects	16
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	16
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects	15
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	15
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	15
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction	15
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome	15
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy	14
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer	14
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	14
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	14
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	14
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	14
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	14
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	14
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	14
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population	13
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome	13
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients	13
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	13
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	13
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	13
The genomic landscape of pediatric rheumatology disorders in the Middle East	13
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	12
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Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	12
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing	12
Back Cover, Volume 43, Issue 7	12
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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	12
DNAH14 variants are associated with neurodevelopmental disorders	12
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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study	12
The enhancer rare germline variation rs548071605 contributes to lung cancer development	12
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease	12
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	11

Front Cover, Volume 43, Issue 9	11
Fumarate Hydratase ( FH ) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patie	11
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	11
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease	11
Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal	11
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Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy	11
KATK: Fast genotyping of rare variants directly from unmapped sequencing reads	11
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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	11
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	11
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	11
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Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	10
Genome Sequencing of Idiopathic Speech Delay	10
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive	10
The transmission of human mitochondrial DNA in four‐generation pedigrees	10
Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features	10
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients	10
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	10
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing	10
Variant interpretation: UCSC Genome Browser Recommended Track Sets	9
Mutation update for the ACTN2 gene	9
Machine learning models for accurate prioritization of variants of uncertain significance	9
Dissection of contiguous gene effects for deletions around ERF on chromosome 19	9
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	9
Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B	9
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	9
Variants of human CLDN9 cause mild to profound hearing loss	9
A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition	9
Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants	9
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones	9
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort	9
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome	9
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	8
Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria	8
Corrigendum	8
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Clinical whole‐genome sequencing in cancer diagnosis	8
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome	8
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships	8
Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes	8
The human ATP‐binding cassette (ABC) transporter superfamily	8
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MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing	8
Epidemiological aspects of hereditary fructose intolerance: A database study	8
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework	8
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti	8
Front Cover, Volume 43, Issue 11	8
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence	7
uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome	7
Benchmarking of univariate pleiotropy detection methods applied to epilepsy	7
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)	7
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor	7
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research	7
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Prevalence and phenotype associations of complement factor I mutations in geographic atrophy	7
Front Cover, Volume 43, Issue 7	7
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	7
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Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	7
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	7
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	7
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Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	6
An algorithm for optimal testing in co‐segregation analysis	6
The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis	6
Functional and clinical implications of genetic structure in 1686 Italian exomes	6
Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer	6
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development	6
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience	6
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	6
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	6
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder	6
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A	6
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy	6
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	6

Genome sequencing in congenital cataracts improves diagnostic yield	6
Qatar genome: Insights on genomics from the Middle East	6
YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research	6
Extending the allelic spectrum at noncoding risk loci of orofacial clefting	6
Discovery of over 200 new and expanded genetic conditions using GeneMatcher	6
Identification of missense MAB21L1 variants in microphthalmia and aniridia	6
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm	6
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20	6
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	6
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	6
SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression	6
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	5
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management	5
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database	5
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17	5
Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia	5
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease	5
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome	5
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	5
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach	5
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder	5
Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome	5
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy	5
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	5
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	5
Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China	5
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation	5
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	5
A survey of current methods to detect and genotype inversions	5
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin	5
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	5
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma	5
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency	5
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention	5
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Destabilization of mutated human PUS3 protein causes intellectual disability	5
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families	5
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth	4
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit	4
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease	4
An Update on Reported Variants in the Skeletal Muscle α‐Actin (ACTA1) Gene	4
A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type	4
Cover, Volume 42, Issue 11	4
Generation and mutational analysis of a transgenic mouse model of humanSRY	4
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity	4
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	4
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation	4
Broad variation in phenotypes for common GAA genotypes in Pompe disease	4
Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer‐related genes	4
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians	4
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR	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
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome	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
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