Associated Papers
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
The congenital dyserythropoieitic anemias: genetics and pathophysiology.
King R et al.
Current Opinion in Hematology, 2022
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Lunati A et al.
American Journal of Hematology, 2021
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Rodger C et al.
American Journal of Human Genetics, 2020
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