Chiara Rasi

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 2

Top Topics

Clinical Practice

Artificial Intelligence

Top Venues

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Olivia J Henry, Tommy Stödberg, Sofia Båtelson, Chiara Rasi, Henrik Stranneheim, Anna Wedell
Individualised human phenotype ontology gene panels improve clinical whole exome and genome sequencing analytical efficacy in a cohort of developmental and epileptic encephalopathies. Molecular genetics & genomic medicine (2023)
Chiara Rasi, Daniel Nilsson, Måns Magnusson, Nicole Lesko, Kristina Lagerstedt-Robinson, Anna Wedell, Anna Lindstrand, Valtteri Wirta, Henrik Stranneheim
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network. Human mutation 43 (6) (2022)