Professionals' views on providing personalized recurrence risks for de novo mutations: Implications for genetic counseling
Article in Journal of Genetic Counseling (June 2024)
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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
Article in American Journal of Human Genetics (May 2024)
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Article in Genome Medicine (November 2023)