The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.Key areas include:-Monogenic and multifactorial disorders-Development and malformation-Hereditary cancer-Medical Genomics-Gene mapping and functional studies-Genotype-phenotype correlations-Genetic variation and genome diversity-Statistical and computational genetics-Bioinformatics-Advances in diagnostics-Therapy and prevention-Animal models-Genetic services-Community genetics
《欧洲人类遗传学杂志》是欧洲人类遗传学学会的官方期刊，在迅速扩大的人类遗传学和基因组学领域发表高质量的原创研究论文、简短报告和综述。它涵盖了分子、临床和细胞遗传学，连接先进的生物医学研究和临床医生，并在遗传学社区的设施、资源和观点的巨大多样性之间架起桥梁。主要领域包括：-单基因和多因素疾病-发育和畸形-遗传性癌症-医学基因组学-基因定位和功能研究-基因型-表型相关性-遗传变异和基因组多样性-统计和计算遗传学-生物信息学-诊断学的进展-治疗和预防-动物模型-遗传服务-社区遗传学
Return of individual genomic research results: are laws and policies keeping step?
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-018-0311-3
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0497-z
The GDPR and the research exemption: considerations on the necessary safeguards for research biobanks
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0386-5
Genetic architecture of laterality defects revealed by whole exome sequencing
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-018-0307-z
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0402-9
Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0412-7
Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0533-z
Dwarna: a blockchain solution for dynamic consent in biobanking
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0560-9
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0442-1
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0500-8
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0471-9
A characterization of cis- and trans-heritability of RNA-Seq-based gene expression
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0511-5
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0400-y
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0364-y
Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0390-9
Microdeletion of pseudogene chr14.232.a affects LRFN5 expression in cells of a patient with autism spectrum disorder
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0430-5
Sex specific associations in genome wide association analysis of renal cell carcinoma
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0455-9
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0338-0
Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0399-0
Variants in DOCK3 cause developmental delay and hypotonia
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0397-2
Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0341-5
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0366-9
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0383-8
A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0342-4
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0384-7
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0485-3
MNS1 variant associated with situs inversus and male infertility
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0489-z
A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0398-1
Genetic correlations between pain phenotypes and depression and neuroticism
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0530-2
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0473-7
Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0518-y
Homozygous stop-gain variant in LRRC32, encoding a TGFβ receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0380-y
Reassessing the pathogenicity of c.2858G>T(p.(G953V)) in COL4A5 Gene: report of 19 Chinese families
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0523-1
Trends in BRCA testing and socioeconomic deprivation
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0424-3
Deletions and loss-of-function variants in TP63 associated with orofacial clefting
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0370-0
Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0546-7
Identification of Lynch syndrome by microsatellite instability and mismatch repair deficiency testing on colorectal adenomas
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0562-7
Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0453-y
Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0443-0
The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0451-0
Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0475-5
Assessment of genetic variant burden in epilepsy-associated brain lesions
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0484-4
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0406-5
Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0388-3
Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0554-7
Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0407-4
Knowledge and views about genetics: a public-based cross-sectional study
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0532-0
Biological insights into multiple birth: genetic findings from UK Biobank
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0355-z
A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0375-8
Reviewer recognition
来源期刊：European Journal of Human GeneticsDOI：10.1038/s41431-019-0367-8
