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Ryan, Emory
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1

Phenotypic consequences of GBA1 pathological variant R463C ..:

Ryan, Emory ; Nishimura, Samantha ; Lopez, Grisel..
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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2

15 year evaluation of prodromal Parkinson features in a coh..:

Nishimura, Samantha ; Torres, Alondra Mendez ; Lichtenberg, Jens...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107983 , 2024
Link: https://doi.org/10.1016/..
 
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3

The D409H variant in GBA1: Challenges in predicting the Gau..:

Gleason, Adenrele M. ; D'Souza, Andrea ; Ryan, Emory...
American Journal of Medical Genetics Part A.  191 (2023)  7 - p. 1783-1791 , 2023
Link: https://doi.org/10.1002/..
 
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4

Revisiting the diagnosis of Gaucher disease in a family wit..:

Ryan, Emory ; Tayebi, Nahid ; D'Souza, Andrea...
American Journal of Medical Genetics Part A.  191 (2023)  10 - p. 2647-2650 , 2023
Link: https://doi.org/10.1002/..
 
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5

An exploration of knowledge, risk perceptions, and communic..:

Daykin, Emily C. ; Poffenberger, Chelsie N. ; Do, Jenny...
Journal of Genetic Counseling.  32 (2023)  3 - p. 750-757 , 2023
Link: https://doi.org/10.1002/..
 
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6

Longitudinal evaluation of olfactory function in individual..:

Lopez, Grisel J. ; Lichtenberg, Jens ; Tayebi, Nahid...
Frontiers in Neurology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

Gaucher disease in the COVID-19 pandemic environment: The g..:

Ginns, Edward I. ; Ryan, Emory ; Sidransky, Ellen
Molecular Genetics and Metabolism.  132 (2021)  4 - p. 213-214 , 2021
Link: https://doi.org/10.1016/..
 
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8

DeepGestalt as a potential novel method to help discriminat..:

Daykin, Emily ; Ryan, Emory ; Fleischer, Nicole...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S32 , 2021
Link: https://doi.org/10.1016/..
 
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9

COVID-19 patient impact: A survey of the Gaucher community ..:

Ryan, Emory ; Lopez, Grisel ; Balwani, Manisha...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S93 , 2021
Link: https://doi.org/10.1016/..
 
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10

Investigation of a dysmorphic facial phenotype in patients ..:

Daykin, Emily ; Fleischer, Nicole ; Abdelwahab, Magy...
Molecular Genetics and Metabolism.  134 (2021)  3 - p. 274-280 , 2021
Link: https://doi.org/10.1016/..
 
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11

Gaucher Disease and Heart Failure of Unknown Origin:

Ryan, Emory ; Nguyen, My-Le ; Lopez, Grisel...
The American Journal of Medicine.  134 (2021)  6 - p. 745-748 , 2021
Link: https://doi.org/10.1016/..
 
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12

Diagnosing neuronopathic Gaucher disease: New consideration..:

Daykin, Emily C. ; Ryan, Emory ; Sidransky, Ellen
Molecular Genetics and Metabolism.  132 (2021)  2 - p. 49-58 , 2021
Link: https://doi.org/10.1016/..
 
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13

findings in a family withmutations: A case study and implic..:

Poffenberger, Chelsie ; Do, Jenny ; Ryan, Emory..
Molecular Genetics and Metabolism.  129 (2020)  2 - p. S129 , 2020
Link: https://doi.org/10.1016/..
 
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14

Parkinsonism in Patients with Neuronopathic (Type 3) Gauche..:

Ryan, Emory ; Amato, Dominick ; MacKenzie, Jennifer J...
Movement Disorders Clinical Practice.  7 (2020)  7 - p. 834-837 , 2020
Link: https://doi.org/10.1002/..
 
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15

The natural history of type 2 Gaucher disease in the 21st c..:

Roshan Lal, Tamanna ; Seehra, Gurpreet K. ; Steward, Alta M....
Neurology.  95 (2020)  15 - p. , 2020
Link: https://doi.org/10.1212/..
 
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