CONTEXT Genetics services are not well integrated into the public health programs of most states, nor has there been effective use of clinical and program databases in the design, evaluation, and monitoring of public health genetics services at the state level. OBJECTIVE To evaluate the availability and current use of population-based clinical genetics databases, including birth defects surve...

Department of Clinical Genetics, H.C. Andersen Children’s Hospital, Odense University Hospital, Odense, Denmark, MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, University of Southampton, Southampton, UK and Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand Correspondence to Anne B. Krøigård,...

October 2021 marks the 100th anniversary of founding Department neurology and medical genetics at Perm State Medical University. The article presents a historical perspective, main clinical research achievements, development prospects for department.

Daniel Hess, Jeremy J. Keusch, Saskia A. Lesnik Oberstein, Raoul C. M. Hennekam , and Jan Hofsteenge From the Friedrich Miescher Institute for Biomedical Research, Basel CH-4058, Switzerland, the Center for Human and Clinical Genetics, Department of Clinical Genetics, K5-R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands, the Clinical and Molecular Genetics Unit, Institute of ...

BACKGROUND The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical laboratories adopt modern genomics technologies, the need for this type of collaborative framework is increasingly important. METHODS A survey to assess existing protocols for var...