Hereditary cancer: Germline testing practices across ERN GENTURIS member countries - European Journal of Human Genetics

Challenges in identifying paediatric cancer predisposition syndromes: international SCOPE survey and SIOPE expert consensus recommendations - European Journal of Human Genetics

Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes - European Journal of Human Genetics

Optimising rare tumour risk syndromes care: clinical insights and the PREVENTABLE socioeconomic framework - European Journal of Human Genetics

Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care - European Journal of Human Genetics

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder - European Journal of Human Genetics

Determining a role for Patient and Public Involvement and Engagement (PPIE) in genomic data governance for cancer care - European Journal of Human Genetics

Identifying genetic causes and establishing a diagnostic approach for WES-negative pediatric population with neurodevelopmental disorder - European Journal of Human Genetics

Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder - European Journal of Human Genetics

A prioritization framework for BRCA1/2 variants of uncertain significance identified by comprehensive genomic profiling - European Journal of Human Genetics

Comparing the types of haemochromatosis- from genetics to clinics - European Journal of Human Genetics

Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing - European Journal of Human Genetics

Tofersen treatment in respiratory onset amyotrophic lateral sclerosis and a variant of uncertain significance in SOD1; a case report - European Journal of Human Genetics

Individuals’ preferences for future biological sample and genomic data sharing in the Australian Reproductive Genetic Carrier Screening Project - European Journal of Human Genetics

Systematic mapping of rare genetic disease studies using UK primary care electronic health records - European Journal of Human Genetics

Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy - European Journal of Human Genetics

Patient and family perspectives on cascade screening for thoracic aortic disease: a mixed-methods evaluation - European Journal of Human Genetics

Genomic inversion at 6p22.3 supports ID4 dysregulation as the pathogenic mechanism of Mesomelic dysplasia Savarirayan-type - European Journal of Human Genetics

SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula - European Journal of Human Genetics

Public perceptions of genetic sequencing in China: barriers and drivers of adoption - European Journal of Human Genetics

‘Everyday genetics’ in the Mass Observation Project: insights on genetics from people writing for an archive of everyday life in Britain - European Journal of Human Genetics

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients - European Journal of Human Genetics

Short-read genome sequencing at population scale: diagnostic insights from 2317 patients - European Journal of Human Genetics

Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells - European Journal of Human Genetics

Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study - European Journal of Human Genetics

Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study - European Journal of Human Genetics

Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population - European Journal of Human Genetics

DNA in public health screening programmes

Childhood motor speech disorders: who to prioritise for genetic testing - European Journal of Human Genetics

Childhood motor speech disorders: who to prioritise for genetic testing - European Journal of Human Genetics

Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study - European Journal of Human Genetics

HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders - European Journal of Human Genetics

The cost and cost-effectiveness of whole-exome and whole-genome sequencing: a systematic literature review - European Journal of Human Genetics

Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome - European Journal of Human Genetics

Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR - European Journal of Human Genetics

Harmonizing the genetic counselor profession in Europe - European Journal of Human Genetics