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Mohan, Shruthi
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1

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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2

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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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

P008: ClinGen Glucose-6-phosphate dehydrogenase (G6PD) Vari..:

Mohan, Shruthi ; Geck, Renee ; Fayer, Shawn...
Genetics in Medicine Open.  2 (2024)  - p. 100885 , 2024
Link: https://doi.org/10.1016/..
 
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5

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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6

Neighborhood Deprivation and Treatment Challenges in Pediat..:

Mahindroo, Sonal ; Mohan, Shruthi ; Dance, Sarah...
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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7

P617: Is it time to switch to AlphaMissense for in silico m..:

Mohan, Shruthi ; Ross, Justyne ; Goldstein, Jenny
Genetics in Medicine Open.  2 (2024)  - p. 101523 , 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

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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10

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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11

A prospective cohort study of assisted bladder emptying fol..:

Davis, Meghan ; Mohan, Shruthi ; Russell, Teresa...
Journal of Pediatric Urology.  19 (2023)  4 - p. 371.e1-371.e11 , 2023
Link: https://doi.org/10.1016/..
 
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12

Curation Of Genes Associated with Primary Antibody Deficien..:

Nieto-Patlán, Alejandro ; Mohan, Shruthi ; Ross, Justyne...
Clinical Immunology.  250 (2023)  - p. 109412 , 2023
Link: https://doi.org/10.1016/..
 
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13

Ionized Magnesium Correlates With Total Blood Magnesium in ..:

Hasson, Denise C. ; Mohan, Shruthi ; Rose, James E....
Annals of Laboratory Medicine.  44 (2023)  1 - p. 21-28 , 2023
Link: https://doi.org/10.3343/..
 
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14

Validation of Neck Disability Index Severity among Patients..:

Geoghegan, Cara E. ; Mohan, Shruthi ; Lynch, Conor P....
Asian Spine Journal.  17 (2023)  1 - p. 86-95 , 2023
Link: https://doi.org/10.31616..
 
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15

O11: Defining the pleiotropic GATA2 deficiency phenotype fo..:

Mohan, Shruthi ; Tallis, Eran ; Walker, Taylor...
Genetics in Medicine Open.  1 (2023)  1 - p. 100055 , 2023
Link: https://doi.org/10.1016/..
 
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