What's in a name? Issues to consider when naming Mendelian disorders

Genet Med. 2020 Oct;22(10):1573-1575. doi: 10.1038/s41436-020-0851-0. Epub 2020 Jun 18.

Authors

Sonja A Rasmussen¹, Ada Hamosh²; OMIM curators

Collaborators

OMIM curators:
Joanna Amberger, Cassandra Arnold, Carol Bocchini, Marla J F O'Neill, Anne Stumpf

Affiliations

¹ Departments of Pediatrics and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL, USA.
² Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. ahamosh@jhmi.edu.

No abstract available

Publication types

Research Support, N.I.H., Extramural

Grants and funding