Terkko Navigator / European Journal of Human Genetics

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

Abstracts from the 2018 European Meeting on Psychosocial Aspects of Genetics

Abstracts from the 51st European Society of Human Genetics Conference: Electronic Posters

Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)

Abstracts from the 51st European Society of Human Genetics Conference: Posters

Abstracts from the 51st European Society of Human Genetics Conference: Oral Presentations

Reply to DM Hougaard et al.

Response to “Newborn dried blood spot samples in Denmark: the hidden figures of secondary use and research participation”

After the fact—the case of CRISPR babies

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS study

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation

The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing

Sex specific associations in genome wide association analysis of renal cell carcinoma

The nurturing of nature

Global, pathway and gene coverage of three Illumina arrays with respect to inflammatory and immune-related pathways

Small posterior fossa in Chiari I malformation affected families is significantly linked to 1q43-44 and 12q23-24.11 using whole exome sequencing

A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care

Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor

Challenges and strategies proposed by genetic health professionals to assist with family communication

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

APOB gene polymorphisms may affect the risk of minor or minimal bleeding complications in patients on warfarin maintaining therapeutic INR

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016

DEGS1 variant causes neurological disorder