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Rathbun, Pamela A.
20  results:
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1

Homozygosity for disease‐causing variants in AMT and GLDC i..:

Drackley, Andy ; Peter, Merlene ; Rathbun, Pamela...
American Journal of Medical Genetics Part A.  194 (2024)  8 - p. , 2024
Link: https://doi.org/10.1002/..
 
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2

ROS1 Alterations as a Potential Driver of Gliomas in Infant..:

Meredith, David M. ; Cooley, Linda D. ; Dubuc, Adrian...
Modern Pathology.  36 (2023)  11 - p. 100294 , 2023
Link: https://doi.org/10.1016/..
 
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3

P454: Investigating the efficacy of targeted NGS panels wit..:

Drackley, Andy ; Rathbun, Pamela ; Ing, Alexander...
Genetics in Medicine Open.  1 (2023)  1 - p. 100501 , 2023
Link: https://doi.org/10.1016/..
 
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4

P591: Assessing the performance of automated HPO term extra..:

Lee Yap, Kai ; Wong, Anthony ; Tuteja, Sachleen...
Genetics in Medicine Open.  1 (2023)  1 - p. 100638 , 2023
Link: https://doi.org/10.1016/..
 
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5

Expansion of the phenotypic spectrum associated with pathog..:

Drackley, Andy ; De Simone, Lenika ; Kuntz, Nancy...
American Journal of Medical Genetics Part A.  194 (2023)  1 - p. 53-58 , 2023
Link: https://doi.org/10.1002/..
 
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6

Utility and Outcomes of the 2019 American College of Medica..:

Drackley, Andy ; Brew, Casey ; Wlodaver, Alissa...
The Journal of Molecular Diagnostics.  24 (2022)  10 - p. 1100-1111 , 2022
Link: https://doi.org/10.1016/..
 
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7

Methylation Profiling Improves the Care of Pediatric Brain ..:

Jamshidi, Pouya ; McCord, Matthew ; Horbinski, Craig...
AJSP: Reviews and Reports.  27 (2022)  3 - p. e1-e4 , 2022
Link: https://doi.org/10.1097/..
 
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8

1. Clinicopathologic analysis of gliomas harboring ROS1 gen..:

Cooley, Linda ; Dubuc, Adrian M. ; Morrissetter, Jennifer J.D....
Cancer Genetics.  260-261 (2022)  - p. 1 , 2022
Link: https://doi.org/10.1016/..
 
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9

eP363: A review of characteristic features identifying bala..:

Ing, Alexander ; Charrow, Joel ; Drackley, Andrew...
Genetics in Medicine.  24 (2022)  3 - p. S228-S229 , 2022
Link: https://doi.org/10.1016/..
 
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10

OP034: Evaluation of the 2019 ACMG-ClinGen guidelines for i..:

Drackley, Andy ; Brew, Casey ; Wlodaver, Alissa...
Genetics in Medicine.  24 (2022)  3 - p. S362 , 2022
Link: https://doi.org/10.1016/..
 
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11

Genetic Testing in Patients with Neurodevelopmental Disorde..:

Du, Xiaoli ; Glass, Jennifer Elaine ; Balow, Stephanie...
Journal of Autism and Developmental Disorders.  52 (2021)  11 - p. 4828-4842 , 2021
Link: https://doi.org/10.1007/..
 
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12

Detection of a cryptic inverted duplication in the RAB27A 5..:

Wlodaver, Alissa ; Caparelli, Edward ; Turner, Rebekah...
Molecular Genetics and Metabolism.  132 (2021)  - p. S278 , 2021
Link: https://doi.org/10.1016/..
 
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13

The Value of Chromosome Analysis to Interrogate Variants in..:

Kellner, Erinn S. ; Rathbun, Pamela A. ; Marshall, Gary S....
Journal of Clinical Immunology.  39 (2019)  8 - p. 857-859 , 2019
Link: https://doi.org/10.1007/..
 
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14

Neonatal Lung Disease Associated with TBX4 Mutations:

Suhrie, Kristen ; Pajor, Nathan M. ; Ahlfeld, Shawn K....
The Journal of Pediatrics.  206 (2019)  - p. 286-292.e1 , 2019
Link: https://doi.org/10.1016/..
 
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15

Period Changes of RR Lyrae Stars in Seven Globular Clusters:

Rathbun, Pamela Gay ; Smith, Horace A.
Publications of the Astronomical Society of the Pacific.  109 (1997)  740 - p. 1128-1134 , 1997
Link: https://www.jstor.org/st..
 
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