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