October 20, 2023 article Open access Deep phenotyping and population-level data can help resolve genomic variants European Journal of Human Genetics DOI: 10.1038/s41431-023-01483-w Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 0 References 3 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome 2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 59 citations KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease 2023 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 15 citations Consanguineous couples’ experiences and views regarding expanded carrier screening: Barriers and facilitators in the decision-making process 2023 European Journal of Human Genetics article Medicine Prenatal Screening and Diagnostics Open access 4 citations 3 results