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Pizzino, Amy
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1

Longitudinal natural history studies based on real-world da..:

Adang, Laura Ann ; Sevagamoorthy, Anjana ; Sherbini, Omar...
Molecular Genetics and Metabolism.  142 (2024)  1 - p. 108453 , 2024
Link: https://doi.org/10.1016/..
 
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2

The natural history of variable subtypes in pediatric-onset..:

Vanderver, Adeline ; Gavazzi, Francesco ; Charsar, Brittany...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108271 , 2024
Link: https://doi.org/10.1016/..
 
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3

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108328 , 2024
Link: https://doi.org/10.1016/..
 
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4

Development of a rigorous approach for retrospective natura..:

Sevagamoorthy, Anjana ; Gavazzi, Francesco ; Sherbini, Omar...
Molecular Genetics and Metabolism.  141 (2024)  2 - p. 108041 , 2024
Link: https://doi.org/10.1016/..
 
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5

Further Delineation of the Clinical and Pathologic Features..:

Helman, Guy ; Zerem, Ayelet ; Almad, Akshata...
Pediatric Neurology.  121 (2021)  - p. 11-19 , 2021
Link: https://doi.org/10.1016/..
 
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6

Genome sequencing in persistently unsolved white matter dis..:

Helman, Guy ; Lajoie, Bryan R. ; Crawford, Joanna...
Annals of Clinical and Translational Neurology.  7 (2020)  1 - p. 144-152 , 2020
Link: https://doi.org/10.1002/..
 
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7

Estimating the relative frequency of leukodystrophies and r..:

Schmidt, Johanna L. ; Pizzino, Amy ; Nicholl, Jessica...
American Journal of Medical Genetics Part A.  182 (2020)  8 - p. 1906-1912 , 2020
Link: https://doi.org/10.1002/..
 
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8

Phenotypic and Imaging Spectrum Associated With WDR45:

Adang, Laura A. ; Pizzino, Amy ; Malhotra, Alka...
Pediatric Neurology.  109 (2020)  - p. 56-62 , 2020
Link: https://doi.org/10.1016/..
 
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9

Randomized Clinical Trial of First‐Line Genome Sequencing i..:

Vanderver, Adeline ; Bernard, Geneviève ; Helman, Guy...
Annals of Neurology.  88 (2020)  2 - p. 264-273 , 2020
Link: https://doi.org/10.1002/..
 
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10

Health-Related Quality of Life for Patients With Geneticall..:

Mirchi, Amytice ; Pelletier, Félixe ; Tran, Luan T....
Pediatric Neurology.  84 (2018)  - p. 21-26 , 2018
Link: https://doi.org/10.1016/..
 
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11

Mutations in SZT2 result in early‐onset epileptic encephalo..:

Pizzino, Amy ; Whitehead, Matthew ; Sabet Rasekh, Parisa...
American Journal of Medical Genetics Part A.  176 (2018)  6 - p. 1443-1448 , 2018
Link: https://doi.org/10.1002/..
 
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12

Absence of Axoglial Paranodal Junctions in a Child With CNT..:

Conant, Alexander ; Curiel, Julian ; Pizzino, Amy...
Journal of Child Neurology.  33 (2018)  10 - p. 642-650 , 2018
Link: https://doi.org/10.1177/..
 
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13

LeukoSeq Whole Genome Sequencing Clinical Trial: An Interim..:

Helman, Guy ; Sherbini, Omar ; Cross, Zachary...
Neurology.  90 (2018)  15_supplement - p. , 2018
Link: https://doi.org/10.1212/..
 
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14

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts ..:

Ulrick, Nicole ; Goldstein, Amy ; Simons, Cas...
Pediatric Neurology.  66 (2017)  - p. 59-62 , 2017
Link: https://doi.org/10.1016/..
 
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15

Revised consensus statement on the preventive and symptomat..:

Adang, Laura A. ; Sherbini, Omar ; Ball, Laura...
Molecular Genetics and Metabolism.  122 (2017)  1-2 - p. 18-32 , 2017
Link: https://doi.org/10.1016/..
 
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