Wambach, Jennifer
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9

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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Distinguishing severe phenotypes associated with pathogenic..:

Perrier, Stefanie ; Gauquelin, Laurence ; Wambach, Jennifer A..
American Journal of Medical Genetics Part A.  188 (2021)  2 - p. 708-712 , 2021
 
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15

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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