Terkko Navigator / European Journal of Human Genetics

The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Posters

A characterization of cis- and trans-heritability of RNA-Seq-based gene expression

Severe neurodevelopmental disease caused by a homozygous TLK2 variant

Functional variants in ADH1B and ALDH2 are non-additively associated with all-cause mortality in Japanese population

Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls

Ethical, legal, and social issues (ELSI) in rare diseases: a landscape analysis from funders

MNS1 variant associated with situs inversus and male infertility

Rethinking the ethical principles of genomic medicine services

The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy

Genome sequencing in healthcare: understanding the UK general public’s views and implications for clinical practice

Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy

Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene

What do cancer patients’ relatives think about addressing cancer family history and performing genetic testing in palliative care?

Distributed Ledger Technology in genomics: a call for Europe

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stakeholders’ perspectives on the post-mortem use of genetic and health-related data for research: a systematic review

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

GWAS of five gynecologic diseases and cross-trait analysis in Japanese

CUGC for Stromme syndrome and CENPF-related disorders

The Dutch Y-chromosomal landscape

Sketching the prevalence of pharmacogenomic biomarkers among populations for clinical pharmacogenomics

Copy number variants in lipid metabolism genes are associated with gallstones disease in men

School level of children carrying a HNF1B variant or a deletion

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

APC transcription studies and molecular diagnosis of familial adenomatous polyposis

Meeting report: The Human Genome Meeting (HGM) 2019 in Seoul, Korea

Heritability of human visual contour integration—an integrated genomic study

Genetics-related service and information needs of childhood cancer survivors and parents: a mixed-methods study

Assessment of genetic variant burden in epilepsy-associated brain lesions

Correction to: Genetic discrimination by Australian insurance companies: a survey of consumer experiences

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes

Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)

Germline genome editing: public dialogue is urgent but not self-evident

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

Mendelian disease caused by variants affecting recognition of Z-DNA and Z-RNA by the Zα domain of the double-stranded RNA editing enzyme ADAR

Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects

Exploring the effect of ascertainment bias on genetic studies that use clinical pedigrees

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems: results of a survey in over 50 countries

A functional assay to study the pathogenicity of CHD7 protein variants encountered in CHARGE syndrome patients

Clinical utility gene card: for incontinentia pigmenti

Genetic relationships of European, Mediterranean, and SW Asian populations using a panel of 55 AISNPs

Genetic discrimination by Australian insurance companies: a survey of consumer experiences

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia