Human Mutation

Article	Citations
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program	362
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects	92
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Issue Information	50
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In Memoriam: Haig H. Kazazian, Jr. (1937–2022)	45
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Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency	37
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery	35
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability	34
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus	33
Human Mutation special issue on innovations in genomic diagnostics	32
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis	31
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development	30
Myopathy can be a key phenotype of membrin (GOSR2) deficiency	29
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma	28
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy	28
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain	28
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening	24
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature	23
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy	23
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa	23

Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods	23
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome	23
Integrated in silico and experimental assessment of disease relevance of PCDH19  missense variants	23
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	22
Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes	22
Better and faster is cheaper	21
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene	20
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders	20
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	20
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review	20
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis	19
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer	19
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome	19
Clinical exome sequencing—Mistakes and caveats	19
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes	19
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction	18
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability	18
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV2	18
VariantAlert: A web‐based tool to notify updates in genetic variant annotations	18
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy	17
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach	17
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects	17
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations	17
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EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma	16
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases	15
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population	15
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study	15
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy	15
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery	15
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data	14
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers	14
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia	14
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology	14
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest	14
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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study	13
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Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal	13
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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants	13
KATK: Fast genotyping of rare variants directly from unmapped sequencing reads	13
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Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease	12
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships	12
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments	12
Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features	12

Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort	12
Front Cover, Volume 43, Issue 9	12
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly	12
DNAH14 variants are associated with neurodevelopmental disorders	12
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance	12
The enhancer rare germline variation rs548071605 contributes to lung cancer development	12
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL	12
The transmission of human mitochondrial DNA in four‐generation pedigrees	12
Fumarate Hydratase ( FH ) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patie	12
Machine learning models for accurate prioritization of variants of uncertain significance	11
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies	11
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy	11
Variants of human CLDN9 cause mild to profound hearing loss	11
Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria	11
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing	11
Dissection of contiguous gene effects for deletions around ERF on chromosome 19	11
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive	10
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene	10
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing	10
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder	10
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher	10
Variant interpretation: UCSC Genome Browser Recommended Track Sets	9
A homozygous hypomorphicBNIP1variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia	9
Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti	9
Three novel FHL1 variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy	9
Evaluating the Utility of REVEL and CADD for Interpreting Variants in Amyotrophic Lateral Sclerosis Genes	9
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework	9
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting	9
Back Cover, Volume 43, Issue 7	9
Genome Sequencing of Idiopathic Speech Delay	9
Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease	9
Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome	9
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype	9
Clinical whole‐genome sequencing in cancer diagnosis	9
The human ATP‐binding cassette (ABC) transporter superfamily	8
Epidemiological aspects of hereditary fructose intolerance: A database study	8
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients	8
Issue Information	8
REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants	8
Mutation update for the ACTN2 gene	8
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A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition	8
A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones	8
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Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients	8
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Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond	7
Front Cover, Volume 43, Issue 11	7
The heterozygous mutations of SLC26A8 are not the main actors for male infertility	7
Extending the allelic spectrum at noncoding risk loci of orofacial clefting	7
Identification of missense MAB21L1 variants in microphthalmia and aniridia	7
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study	7
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Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability	7
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Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China	7
Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm	7
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families	7
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder	7
Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy	7
Discovery of over 200 new and expanded genetic conditions using GeneMatcher	7
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience	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
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An algorithm for optimal testing in co‐segregation analysis	7
Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach	6
Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease	6
ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research	6
Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth	6
Next‐generation sequencing errors due to genetic variation in WRAP53 encoding TCAB1 on chromosome 17	6
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin	6
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy	6
Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome	6
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management	6
NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome	6
Case–case analysis addressing ascertainment bias for multigene panel testing implicates BRCA1 and PALB2 in endometrial cancer	6
Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH)	6
A novel gene mutation in ZP3 loop region identified in patients with empty follicle syndrome	6
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor	6

YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research	6
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing loss	6
Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma	6
Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy	6
De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder	6
Genome sequencing in congenital cataracts improves diagnostic yield	6
Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia	6
von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention	6
Front Cover, Volume 43, Issue 7	6
Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases	5
Qatar genome: Insights on genomics from the Middle East	5
Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum	5
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach	5
New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder	5
A survey of current methods to detect and genotype inversions	5
Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene	5
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing	5
Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest	5
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A	5
Destabilization of mutated human PUS3 protein causes intellectual disability	5
Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus	5
DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research	5
A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element	5
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study	5
Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome	5
Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing	5
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma	5
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database	5
High Occurrence of a Missense Variant (c.471C>A) in the FGF23 Gene Related to Hyperostosis–Hyperphosphatemia Syndrome With a Possible Founder Effect	5
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function	5
Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency	5
Broad variation in phenotypes for common GAA genotypes in Pompe disease	4
Multiple mechanisms contribute to the phenotypic effects of synonymous variants	4
CAPN3 c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related	4
Cover, Volume 42, Issue 4	4
Cover, Volume 42, Issue 11	4
Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation	4
CIC missense variants contribute to susceptibility for spina bifida	4
A family study implicates GBE1 in the etiology of autism spectrum disorder	4
A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type	4
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients	4