selected publications
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academic article
- Health-related quality of life in glomerular disease.. Kidney international. 95:1209-1224. 2019
- Carrier testing for severe childhood recessive diseases by next-generation sequencing.. Science translational medicine. 3:-. 2011
- Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections.. The Journal of allergy and clinical immunology. 594-7.e1-3. 2013
- Exome sequencing reveals a pallidin mutation in a Hermansky-Pudlak-like primary immunodeficiency syndrome.. Blood. 3185-3187. 2012