The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy.Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.
《人类遗传学杂志》（Journal of Human Genetics）是一份发表人类遗传学论文的国际期刊，内容包括医学遗传学和人类基因组分析。它涵盖了人类遗传学的各个方面，包括分子遗传学、临床遗传学、行为遗传学、免疫遗传学、药物遗传学、群体遗传学、功能基因组学、表观遗传学、遗传咨询和基因治疗。单基因和复杂疾病的遗传因素、全基因组关联研究、遗传流行病学、癌症遗传学、个人基因组学、基因型-表型关系和基因组多样性。
Gene regulation by antitumor miR-130b-5p in pancreatic ductal adenocarcinoma: the clinical significance of oncogenic EPS8
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0584-6
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0667-4
Identification of Genetic Variants in CFAP221 as a Cause of Primary Ciliary Dyskinesia
来源期刊：Journal of human geneticsDOI：10.1038/s10038-019-0686-1
A new era of long-read sequencing for cancer genomics
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0658-5
Novel mutations in PATL2: expanding the mutational spectrum and corresponding phenotypic variability associated with female infertility
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0568-6
ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0573-9
Germline mutations in cancer susceptibility genes in high grade serous ovarian cancer in Serbia
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0562-z
NDUFS6 related Leigh syndrome: a case report and review of the literature
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0594-4
Genome-wide association study of blood lipids in Indians confirms universality of established variants
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0591-7
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0585-5
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0592-6
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0666-5
Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0609-1
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0707-0
MicroRNA-370 functions as a tumor suppressor in hepatocellular carcinoma via inhibition of the MAPK/JNK signaling pathway by targeting BEX2
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0653-x
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndrome
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0596-2
Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype–phenotype relationships
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0696-z
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0599-z
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0560-1
A missense variant in PER2 is associated with delayed sleep–wake phase disorder in a Japanese population
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0665-6
Full sequence of mutant huntingtin 3′-untranslated region and modulation of its gene regulatory activity by endogenous microRNA
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0639-8
Comparison of effects of UGT1A1*6 and UGT1A1*28 on irinotecan-induced adverse reactions in the Japanese population: analysis of the Biobank Japan Project
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0677-2
Previously undescribed thyroid-specific miRNA sequences in papillary thyroid carcinoma
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0583-7
Enzyme replacement therapy for mucopolysaccharidoses; past, present, and future
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0662-9
Analysis of overlapping heterozygous novel submicroscopic CNVs and FANCA–VPS9D1 fusion transcripts in a Fanconi anemia patient
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0629-x
IRAK2 and TLR10 confer risk of Hashimoto’s disease: a genetic association study based on the Han Chinese population
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0613-5
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0570-z
Solid-state nanopores towards single-molecule DNA sequencing
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0655-8
Molecular genealogy of Tusi Lu’s family reveals their paternal relationship with Jochi, Genghis Khan’s eldest son
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0618-0
Genotyping of Malaysian G6PD-deficient neonates by reverse dot blot flow-through hybridisation
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0700-7
A systematic review of predicted pathogenic PALB2 variants: an analysis of mutational overlap between epithelial cancers
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0680-7
Association between BHMT and CBS gene promoter methylation with the efficacy of folic acid therapy in patients with hyperhomocysteinemia
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0672-7
A multiethnic meta-analysis defined the association of rs12946942 with severe adolescent idiopathic scoliosis
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0575-7
Computational identification and analysis of early diagnostic biomarkers for kidney cancer
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0640-2
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0712-3
Cyclooxygenase-2 haplotypes influence the longitudinal risk of malaria and severe malarial anemia in Kenyan children from a holoendemic transmission region
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0692-3
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0706-1
Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0581-9
Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencing
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0681-6
Compound heterozygous mutations of SH3TC2 in Charcot–Marie–Tooth disease type 4C patients
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0636-y
Attitude and perceptions toward miscarriage: a survey of a general population in Japan
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0694-1
Visualization tools for human structural variations identified by whole-genome sequencing
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0687-0
Genome-wide association meta-analysis for total thyroid hormone levels in Croatian population
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0586-4
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0690-5
The associations between three genome-wide risk variants for serum C-peptide of T1D and autoantibody-positive T1D risk, and clinical characteristics in Chinese population
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0705-2
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0668-3
Investigating the role of genetic counseling in neuromuscular disease considering life events
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0590-8
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0610-8
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0693-2
Complete genome and bimodal genomic structure of the amoebal symbiont Neochlamydia strain S13 revealed by ultra-long reads obtained from MinION
来源期刊：Journal of Human GeneticsDOI：10.1038/s10038-019-0684-3
