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Bali, Deeksha
185  results:
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1

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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2

O39: The ClinGen Lysosomal Diseases Variant Curation Expert..:

Goldstein, Jenny ; Waddell, Amber ; Aschoff, Carlos...
Genetics in Medicine Open.  2 (2024)  - p. 100877 , 2024
Link: https://doi.org/10.1016/..
 
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3

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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4

P695: Uncertainty in interpretation of GAA variants detecte..:

Kanavy, Dona ; Goldstein, Jenny ; Pinto e Vairo, Filippo...
Genetics in Medicine Open.  2 (2024)  - p. 101599 , 2024
Link: https://doi.org/10.1016/..
 
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Measurement of glycosaminoglycans in the amniotic fluid of ..:

Young, Sarah ; Lianoglou, Billie R. ; Herzeg, Akos...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108090 , 2024
Link: https://doi.org/10.1016/..
 
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6

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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7

Variant Classification for Pompe disease; ACMG/AMP specific..:

Goldstein, Jennifer L. ; McGlaughon, Jennifer ; Kanavy, Dona...
Molecular Genetics and Metabolism.  140 (2023)  1-2 - p. 107715 , 2023
Link: https://doi.org/10.1016/..
 
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8

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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9

O18: A path forward for patients with glycogen branching en..:

Koch, Rebecca ; Soler-Alfonso, Claudia ; Kiely, Bridget...
Genetics in Medicine Open.  1 (2023)  1 - p. 100114 , 2023
Link: https://doi.org/10.1016/..
 
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10

Phase I study of liver depot gene therapy in late-onset Pom..:

Smith, Edward C. ; Hopkins, Sam ; Case, Laura E....
Molecular Therapy.  31 (2023)  7 - p. 1994-2004 , 2023
Link: https://doi.org/10.1016/..
 
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11

Intrauterine enzyme replacement therapies for lysosomal sto..:

Herzeg, Akos ; Borges, Beltran ; Lianoglou, Billie R....
Prenatal Diagnosis.  43 (2023)  13 - p. 1638-1649 , 2023
Link: https://doi.org/10.1002/..
 
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12

P173: Establishing preclinical efficacy for the first AAV g..:

Gibson, Rebecca ; Lim, Jeong-A ; Choi, Su Jin...
Genetics in Medicine Open.  1 (2023)  1 - p. 100202 , 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

Screening data from 19 patients with late‐onset Pompe disea..:

Hannah, William B. ; Case, Laura E. ; Smith, Edward C....
JIMD Reports.  64 (2023)  5 - p. 393-400 , 2023
Link: https://doi.org/10.1002/..
 
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eP014: Establishment of a clinically validated in vitro fun..:

Goomber, Shelly ; Huggins, Erin ; Rehder, Catherine...
Genetics in Medicine.  24 (2022)  3 - p. S9-S10 , 2022
Link: https://doi.org/10.1016/..
 
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