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Yuzyuk, Tatiana
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1

Development of a scoring system to define lysosomal disease:

Wilke, Matheus V. ; Goldstein, Jennifer ; Groopman, Emily...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108083 , 2024
Link: https://doi.org/10.1016/..
 
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2

Applying phenotypic evidence to support the molecular diagn..:

Groopman, Emily ; Goldstein, Jenny ; Dickson, Alexa...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108165 , 2024
Link: https://doi.org/10.1016/..
 
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3

P020: Recommendations from the ClinGen Peroxisomal Variant ..:

Mohan, Shruthi ; De Biase, Irene ; Yuzyuk, Tatiana...
Genetics in Medicine Open.  2 (2024)  - p. 100897 , 2024
Link: https://doi.org/10.1016/..
 
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4

P252: Development of a scoring system to define lysosomal d..:

Wilke, Matheus ; Goldstein, Jenny ; Groopman, Emily...
Genetics in Medicine Open.  2 (2024)  - p. 101148 , 2024
Link: https://doi.org/10.1016/..
 
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5

Development of a scoring system to define lysosomal disease:

Yuzyuk, Tatiana ; Wilk, Matheus Vernet Machado Bressan ; Goldstein, Jenny...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108294 , 2024
Link: https://doi.org/10.1016/..
 
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6

Evaluating the strength of evidence for genes implicated in..:

Mohan, Shruthi ; Mayers, Megan ; Weaver, Meredith...
Molecular Genetics and Metabolism.  139 (2023)  3 - p. 107604 , 2023
Link: https://doi.org/10.1016/..
 
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7

Quantitative analysis of ethanolamine plasmalogen species i..:

De Biase, Irene ; Yuzyuk, Tatiana ; Cui, Wei...
Clinica Chimica Acta.  542 (2023)  - p. 117295 , 2023
Link: https://doi.org/10.1016/..
 
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8

P367: The impact of modulator therapies on lipids and fatty..:

Yuzyuk, Tatiana ; McDonald, Catherine ; De Biase, Irene...
Genetics in Medicine Open.  1 (2023)  1 - p. 100395 , 2023
Link: https://doi.org/10.1016/..
 
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9

O04: Developing a framework for sequence variant interpreta..:

Groopman, Emily ; Thomas-Wilson, Amanda ; Mohan, Shruthi...
Genetics in Medicine Open.  1 (2023)  1 - p. 100005 , 2023
Link: https://doi.org/10.1016/..
 
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10

Acylglycine Analysis by Ultra‐Performance Liquid Chromatogr..:

Hobert, Judith A. ; Guymon, Rebecca ; Yuzyuk, Tatiana.
Current Protocols.  3 (2023)  4 - p. , 2023
Link: https://doi.org/10.1002/..
 
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11

The ClinGen Lysosomal Diseases Gene Curation Panel: Applyin..:

Groopman, Emily ; Fernandez, Raquel ; Mohan, Shruthi...
Molecular Genetics and Metabolism.  138 (2023)  2 - p. 107128 , 2023
Link: https://doi.org/10.1016/..
 
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12

Improvement of lipid and lipoprotein profiles in children a..:

Yuzyuk, Tatiana ; McDonald, Catherine M. ; Zuromski, Lauren M....
Journal of Cystic Fibrosis.  22 (2023)  6 - p. 1027-1035 , 2023
Link: https://doi.org/10.1016/..
 
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13

THE CLINGEN LYSOSOMAL DISEASES GENE CURATION EXPERT PANEL: ..:

Mao, Rong ; Groopman, Emily ; Fernandez, Raquel...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107454 , 2023
Link: https://doi.org/10.1016/..
 
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14

A neonate with ornithine aminotransferase deficiency; insig..:

Kaczmarczyk, Aneta ; Baker, Mark ; Diddle, Julianna...
Molecular Genetics and Metabolism Reports.  31 (2022)  - p. 100857 , 2022
Link: https://doi.org/10.1016/..
 
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15

Establishing age-stratified red blood cell fatty acid refer..:

Balogun, Kayode A. ; Zuromski, Lauren M. ; Kim, Rachel...
Clinical Biochemistry.  97 (2021)  - p. 25-33 , 2021
Link: https://doi.org/10.1016/..
 
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