Research

Here you can find recent publications and research on carrier screening

Articles about preconception carrier screening

Outcomes of an International Workshop on Preconception Expanded Carrier Screening – Some Considerations for Governments

Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

Reproductive genetic carrier screening for cystic fibrosis fragile x syndrome and spinal muscular atrophy in Australia outcomes of 12000 tests

Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening

Responsible implementation of expanded carrier screening

Examples of carrier screening programs around the world

Tay-Sachs Disease – Carrier Screening, Prenatal Diagnosis, and the Molecular Era. An international perspective 1974 – 1993.

Genetics and genomic medicine in Israel

Opinions

Population Screening in the Age of Genomic Medicine

Expanded Carrier Screening in Reproductive Medicine – Points to Consider

Responsible implementation of expanded carrier screening

Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?

What prospective parents need to know about gene tests such as ‘prepair’

Cost-Effectiveness studies of rare diseases

Health care utilization and costs for children and adults with duchenne muscular dystrophy