Terkko Navigator / European Journal of Human Genetics

Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)—an update

Lifestyle Risk Score: handling missingness of individual lifestyle components in meta-analysis of gene-by-lifestyle interactions

Homozygous variants in PANX1 cause human oocyte death and female infertility

Semi-parametric empirical Bayes factor for genome-wide association studies

Identifying the nature and extent of public and donor concern about the commercialisation of biobanks for genomic research

In Memoriam: Gertjan van Ommen (1947–2020)

Reply to Veitia

ESHG warns against misuses of genetic tests and biobanks for discrimination purposes

The ethics of genomic medicine: redefining values and norms in the UK and France

Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Parents, their children, whole exome sequencing and unsolicited findings: growing towards the child’s future autonomy

The genetic landscape of polycystic kidney disease in Ireland

Correction: Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing

A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?

Genetic analysis of ALS cases in the isolated island population of Malta

Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders

‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

GertJan B. van Ommen 28 September 1947–7 November 2020

A human case of GIMAP6 deficiency: a novel primary immune deficiency

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories

Correction: MobiDetails: online DNA variants interpretation

Informing about genetic risk in families with Huntington disease: comparison of attitudes across two decades

Correction: Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorder

SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome

Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients

Atrial fibrillation—a complex polygenetic disease

Autosomal genetics and Y-chromosome haplogroup L1b-M317 reveal Mount Lebanon Maronites as a persistently non-emigrating population

Copy neutral loss of heterozygosity (cnLOH) patterns in synchronous colorectal cancer

Whole-exome sequencing of Finnish patients with vascular cognitive impairment

Reply to E. Vicente et al.

Regarding the estimations of people affected by rare diseases

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Interactive e-Posters

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

Long-read trio sequencing of individuals with unsolved intellectual disability

High-resolution population-specific recombination rates and their effect on phasing and genotype imputation

Reflections on dynamic consent in biomedical research: the story so far

Noninvasive prenatal test of single-gene disorders by linked-read direct haplotyping: application in various diseases

Genotype-first approach to the detection of hereditary breast and ovarian cancer risk, and effects of risk disclosure to biobank participants

Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia