Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.
《人类突变》是一本同行评审期刊，提供关于人类突变研究广泛方面的原创研究文章、方法、突变更新、评论、数据库文章、快速通信和信件。新的DNA变异及其表型结果的报告、被证明对基因组分析有价值的SNP的报告、新的分子检测方法的描述以及临床诊断的新方法受到欢迎。可以考虑在突变研究背景下报告的基因组水平的基因组织的新报告。该杂志提供了一个独特的论坛，交流思想，方法和应用感兴趣的分子，人类和医学遗传学家在学术，工业和临床研究设置世界各地。
Variable population prevalence estimates of germline TP53 variants: A gnomAD‐based analysis
来源期刊：Human MutationDOI：10.1002/humu.23673
The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders
来源期刊：Human MutationDOI：10.1002/humu.23677
SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes
来源期刊：Human MutationDOI：10.1002/humu.23917
Disease‐causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs
来源期刊：Human MutationDOI：10.1002/humu.23680
Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4
来源期刊：Human MutationDOI：10.1002/humu.23890
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome
来源期刊：Human MutationDOI：10.1002/humu.23730
Genotype and phenotype variability in Sjögren‐Larsson syndrome
来源期刊：Human MutationDOI：10.1002/humu.23679
Two CFTR mutations within codon 970 differently impact on the chloride channel functionality
来源期刊：Human MutationDOI：10.1002/humu.23741
VIPdb, a genetic Variant Impact Predictor Database
来源期刊：Human MutationDOI：10.1002/humu.23858
Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
来源期刊：Human MutationDOI：10.1002/humu.23678
Biallelic variants in DNA2 cause microcephalic primordial dwarfism
来源期刊：Human MutationDOI：10.1002/humu.23776
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders
来源期刊：Human MutationDOI：10.1002/humu.23946
The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis
来源期刊：Human MutationDOI：10.1002/humu.23692
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta
来源期刊：Human MutationDOI：10.1002/humu.23718
Predicting functional variants in enhancer and promoter elements using RegulomeDB
来源期刊：Human MutationDOI：10.1002/humu.23791
Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome
来源期刊：Human MutationDOI：10.1002/humu.23833
RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility
来源期刊：Human MutationDOI：10.1002/humu.23732
SCN1A variants from bench to bedside—improved clinical prediction from functional characterization
来源期刊：Human MutationDOI：10.1002/humu.23943
From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants
来源期刊：Human MutationDOI：10.1002/humu.23898
Screening for rare epigenetic variations in autism and schizophrenia
来源期刊：Human MutationDOI：10.1002/humu.23740
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases
来源期刊：Human MutationDOI：10.1002/humu.23874
Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings
来源期刊：Human MutationDOI：10.1002/humu.23963
Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity
来源期刊：Human MutationDOI：10.1002/humu.23936
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles
来源期刊：Human MutationDOI：10.1002/humu.23855
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
来源期刊：Human MutationDOI：10.1002/humu.23927
Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer
来源期刊：Human MutationDOI：10.1002/humu.23849
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations
来源期刊：Human MutationDOI：10.1002/humu.23724
UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases
来源期刊：Human MutationDOI：10.1002/humu.23702
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant
来源期刊：Human MutationDOI：10.1002/humu.23753
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations
来源期刊：Human MutationDOI：10.1002/humu.23847
Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants
来源期刊：Human MutationDOI：10.1002/humu.23827
Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients
来源期刊：Human MutationDOI：10.1002/humu.23965
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency
来源期刊：Human MutationDOI：10.1002/humu.23831
Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders
来源期刊：Human MutationDOI：10.1002/humu.23889
A snapshot of some pLI score pitfalls
来源期刊：Human MutationDOI：10.1002/humu.23763
What went wrong with variant effect predictor performance for the PCM1 challenge
来源期刊：Human MutationDOI：10.1002/humu.23832
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract
来源期刊：Human MutationDOI：10.1002/humu.23696
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease
来源期刊：Human MutationDOI：10.1002/humu.23752
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge
来源期刊：Human MutationDOI：10.1002/humu.23823
Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations
来源期刊：Human MutationDOI：10.1002/humu.23912
Predicting pathogenicity of missense variants with weakly supervised regression
来源期刊：Human MutationDOI：10.1002/humu.23826
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy
来源期刊：Human MutationDOI：10.1002/humu.23690
Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma
来源期刊：Human MutationDOI：10.1002/humu.23900
Heterozygosity mapping for human dominant trait variants
来源期刊：Human MutationDOI：10.1002/humu.23765
Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome
来源期刊：Human MutationDOI：10.1002/humu.23770
Novel ACTN1 variants in cases of thrombocytopenia
来源期刊：Human MutationDOI：10.1002/humu.23840
Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies
来源期刊：Human MutationDOI：10.1002/humu.23844
High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma
来源期刊：Human MutationDOI：10.1002/humu.23954
Corrigendum
来源期刊：Human MutationDOI：10.1002/humu.23596
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish
来源期刊：Human MutationDOI：10.1002/humu.23924
