Terkko Navigator / European Journal of Human Genetics

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

Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey

Searching for secondary findings: considering actionability and preserving the right not to know

A feline orthologue of the human MYH7 c.5647G>A (p.(Glu1883Lys)) variant causes hypertrophic cardiomyopathy in a Domestic Shorthair cat

Truncating SLC12A6 variants cause different clinical phenotypes in humans and dogs

Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care

Attitudes of blood donors to their sample and data donation for biobanking

Implementation of public health genomics in Pakistan

Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia

Population genetic screening: current issues in a European country

Trends in BRCA testing and socioeconomic deprivation

Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees

A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

gr/gr deletion predisposes to testicular germ cell tumour independently from altered spermatogenesis: results from the largest European study

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts

Abstracts from the 50th European Society of Human Genetics Conference: 7th International Workshop on the History of Human Genetics

Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin

Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2

Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI)

Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia

Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

Linkage analysis revealed risk loci on 6p21 and 18p11.2-q11.2 in familial colon and rectal cancer, respectively

Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients

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

Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta

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

Perceptions of genetic variant reclassification in patients with inherited cardiac disease

Haploinsufficiency of ARHGAP42 is associated with hypertension

Mitochondrial DNA variability of the Polish population

Precision medicine for a man presented with diabetes at 2-month old

A case-note review of continued pregnancies found to be at a high risk of Huntington’s disease: considerations for clinical practice

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Genotype–phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Reviewer recognition

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Deletions and loss-of-function variants in TP63 associated with orofacial clefting

Development of patient “profiles” to tailor counseling for incidental genomic sequencing results