Wambach, Jennifer
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8

A dominant negative variant ofRAB5Bdisrupts maturation of s..:

Huang, Huiyan ; Pan, Jiehong ; Spielberg, David R....
Proceedings of the National Academy of Sciences.  119 (2022)  6 - p. , 2022
 
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Biallelic ASCC1 variants including a novel intronic variant..:

Rosano, Kristen K. ; Wegner, Daniel J. ; Shinawi, Marwan...
American Journal of Medical Genetics Part A.  185 (2021)  7 - p. 2190-2197 , 2021
 
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15

Whole exome sequencing and functional characterization incr..:

Luna, Sofia E. ; Wegner, Daniel J. ; Gale, Sarah...
The Journal of Steroid Biochemistry and Molecular Biology.  212 (2021)  - p. 105908 , 2021
 
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