Human Mutation

Papers
(The TQCC of Human Mutation is 10. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-04-01 to 2025-04-01.)
ArticleCitations
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program362
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects92
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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 insufficiency37
Long‐read HiFi sequencing of NUDT15 : Phased full‐gene haplotyping and pharmacogenomic allele discovery35
Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability34
Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus33
Human Mutation special issue on innovations in genomic diagnostics32
Functionally deficient TRPV6 variants contribute to hereditary and familial chronic pancreatitis31
Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development30
Myopathy can be a key phenotype of membrin (GOSR2) deficiency29
Biallelic loss‐of‐function mutations in SEPTIN4 ( C17ORF47 ), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma28
TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy28
Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain28
Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening24
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature23
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy23
Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa23
Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods23
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome23
Integrated in silico and experimental assessment of disease relevance of PCDH19  missense variants23
EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma22
Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes22
Better and faster is cheaper21
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 re20
Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review20
Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene20
Long‐read sequencing for molecular diagnostics in constitutional genetic disorders20
RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis19
Constitutional BRCA1 Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer19
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome19
Clinical exome sequencing—Mistakes and caveats19
De Novo ACTB Variant Associated With Juvenile‐Onset Temporal Lobe Epilepsy With Favorable Outcomes19
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction18
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability18
Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed Alu insertion‐mediated deletion in NDUFV218
VariantAlert: A web‐based tool to notify updates in genetic variant annotations18
Imaging‐based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy17
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach17
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects17
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations17
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EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma16
The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases15
Comparison of the frequency of loss‐of‐function LZTR1 variants between schwannomatosis patients and the general population15
Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study15
Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy15
Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery15
Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data14
Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers14
Upstream ORF frameshift variants in thePAX65ʹUTR cause congenital aniridia14
Detection of Pathogenic Intronic Variants for COL4A5 Gene in X‐Linked Alport Syndrome: Developing a Novel Methodology14
Biallelic Recessive Mutations in TLE6 and NLRP5 Cause Female Infertility Characterized by Human Early Embryonic Arrest14
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Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal13
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Altered regulation of BRCA1 exon 11 splicing is associated with breast cancer risk in carriers of BRCA1 pathogenic variants13
KATK: Fast genotyping of rare variants directly from unmapped sequencing reads13
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Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study13
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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 disease12
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships12
Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments12
Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features12
Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort12
Front Cover, Volume 43, Issue 912
Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly12
DNAH14 variants are associated with neurodevelopmental disorders12
Clinical variability at the mild end of BRAT1 ‐related spectrum: Evidence from two families with genotype–phenotype discordance12
The enhancer rare germline variation rs548071605 contributes to lung cancer development12
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL12
The transmission of human mitochondrial DNA in four‐generation pedigrees12
Fumarate Hydratase ( FH ) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patie12
Machine learning models for accurate prioritization of variants of uncertain significance11
Dissection of contiguous gene effects for deletions around ERF on chromosome 1911
Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy11
Correlation betweenFBN1mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies11
Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria11
Lack of MECP2 gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing11
Variants of human CLDN9 cause mild to profound hearing loss11
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder10
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher10
A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive10
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene10
Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing10
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