Claudia Gonzaga-Jauregui studies molecular diagnostics of rare genetic disorders using genome sequencing and family-based analyses to better understand variants that cause disease. Gonzaga-Jauregui is ...
In a recent blog, I discussed the change in nomenclature for the conditions formerly known as Neurofibromatosis type 2 (NF2) and schwannomatosis. This change was based on the results of an ...
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