Terkko Navigator / European Journal of Human Genetics

Incorporating information from markers in LD with test locus for detecting imprinting and maternal effects

Reviewer recognition

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Response to “Continental drift? Do European clinical genetic testing laboratories have a patent problem?”

Relationships between patient- and session-related variables and outcomes of psychiatric genetic counseling

A dominant vimentin variant causes a rare syndrome with premature aging

Reply to C.D. Richter

Evaluation of current genetic testing reports in German-speaking countries with regard to secondary use and future electronic implementation

Smith–Lemli–Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?

Cryptic exon activation causes dystrophinopathy in two Chinese families

Alternate approach to stroke phenotyping identifies a genetic risk locus for small vessel stroke

The genetic history of France

Recommendations for designing genetic test reports to be understood by patients and non-specialists

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study

Identification of RELN variant p.(Ser2486Gly) in an Iranian family with ankylosing spondylitis; the first association of RELN and AS

Genotype phasing in pedigrees using whole-genome sequence data

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

Evidence for penetrance in patients without a family history of disease: a systematic review

Transcript specific regulation of expression influences susceptibility to multiple sclerosis

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing

High-resolution inference of genetic relationships among Jewish populations

Development and mixed-methods evaluation of an online animation for young people about genome sequencing

CUGC for syndromic microphthalmia including next-generation sequencing-based approaches

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority

Identification of Lynch syndrome by microsatellite instability and mismatch repair deficiency testing on colorectal adenomas

Dwarna: a blockchain solution for dynamic consent in biobanking

SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes

Response to multiple glucose-lowering agents in a sib-pair with a novel HNF1α (MODY3) variant

Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease

Mixed-model admixture mapping identifies smoking-dependent loci of lung function in African Americans

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

The paternal and maternal genetic history of Vietnamese populations

Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome

Novel clinical and genetic insight into CXorf56-associated intellectual disability

A de novo variant in the human HIST1H4J gene causes a syndrome analogous to the HIST1H4C-associated neurodevelopmental disorder

Primary care provider perspectives on using genomic sequencing in the care of healthy children

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation

“Patient Journeys”: improving care by patient involvement

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

A bird’s-eye view of Italian genomic variation through whole-genome sequencing

Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data

The functional variant of NTN1 contributes to the risk of nonsyndromic cleft lip with or without cleft palate

New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells

Update of a classic

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene–drug interaction of DPYD and fluoropyrimidines

Lessons from Ciência Viva: how teaching human genetics to XXIst century students must go beyond the classroom

Ultralow amounts of DNA from long-term archived serum samples produce quality genotypes