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Clarke, Lorne A
145  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

Plain language summary of a study looking at whether geneti..:

Clarke, Lorne A ; Giugliani, Roberto ; Muenzer, Joseph
Future Rare Diseases.  4 (2024)  1 - p. , 2024
Link: https://doi.org/10.2217/..
 
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4

Survival, cardiac, and pulmonary outcomes in individuals wi..:

Ghosh, Arunabha ; Giugliani, Roberto ; Clarke, Lorne A....
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 107840 , 2024
Link: https://doi.org/10.1016/..
 
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5

Gain-of-function MARK4 variant associates with pediatric ne..:

Samra, Simran ; Sharma, Mehul ; Vaseghi-Shanjani, Maryam...
Human Genetics and Genomics Advances.  5 (2024)  1 - p. 100259 , 2024
Link: https://doi.org/10.1016/..
 
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6

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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7

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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8

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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9

Where there is no genetic counselor: An online decision-aid..:

Birch, Patricia ; Beauchesne, Rhea ; Bansback, Nick...
Genetics in Medicine.  26 (2024)  9 - p. 101173 , 2024
Link: https://doi.org/10.1016/..
 
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10

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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11

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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12

The practice of genomic medicine: A delineation of the proc..:

Handra, Julia ; Elbert, Adrienne ; Gazzaz, Nour...
Frontiers in Medicine.  9 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Natural history of cardiac findings in mucopolysaccharidosi..:

Braunlin, Elizabeth ; Bay, Luisa ; Guffon, Nathalie...
Cardiology in the Young.  34 (2023)  2 - p. 401-411 , 2023
Link: https://doi.org/10.1017/..
 
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14

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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15

Pharmacological Chaperones for GCase that Switch Conformati..:

Santana, Andrés G. ; Robinson, Kyle ; Vickers, Chelsea...
Angewandte Chemie International Edition.  61 (2022)  38 - p. , 2022
Link: https://doi.org/10.1002/..
 
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