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Truty, Rebecca
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1

Scalable detection of technically challenging variants thro..:

Rojahn, Susan ; Hambuch, Tina ; Adrian, Jessika...
Molecular Genetics & Genomic Medicine.  10 (2022)  12 - p. , 2022
Link: https://doi.org/10.1002/..
 
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2

Systematic use of phenotype evidence in clinical genetic te..:

Johnson, Britt ; Ouyang, Karen ; Frank, Lauren...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2642-2651 , 2022
Link: https://doi.org/10.1002/..
 
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3

Value of genetic testing for pediatric epilepsy: Driving ea..:

Leal‐Pardinas, Fernanda ; Truty, Rebecca ; McKnight, Dianalee A....
Epilepsia.  63 (2022)  7 - p. , 2022
Link: https://doi.org/10.1111/..
 
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4

Clinical utility of a sponsored, no-cost skeletal dysplasia..:

Seratti, Guillermo ; Pansare, Vikram ; Pang, Tiffany Yar...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S98 , 2021
Link: https://doi.org/10.1016/..
 
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5

Re-evaluating cancer risks associated with the CHEK2 p.Ser4..:

Laitman, Yael ; Nielsen, Sarah M. ; Hatchell, Kathryn E....
Familial Cancer.  21 (2021)  3 - p. 305-308 , 2021
Link: https://doi.org/10.1007/..
 
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6

Clinical utility of a sponsored, no-cost skeletal dysplasia..:

Seratti, Guillermo ; Pang, Tiffany ; Pansare, Vikram...
Molecular Genetics and Metabolism.  132 (2021)  - p. S201 , 2021
Link: https://doi.org/10.1016/..
 
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7

One in seven pathogenic variants can be challenging to dete..:

Lincoln, Stephen E. ; Hambuch, Tina ; Zook, Justin M....
Genetics in Medicine.  23 (2021)  9 - p. 1673-1680 , 2021
Link: https://doi.org/10.1038/..
 
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8

ATP1A3‐Encoded Sodium‐Potassium ATPase Subunit Alpha 3 D801..:

Moya‐Mendez, Mary E. ; Ogbonna, Chiagoziem ; Ezekian, Jordan E....
Journal of the American Heart Association.  10 (2021)  17 - p. , 2021
Link: https://doi.org/10.1161/..
 
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9

Hypophosphatemia Gene Panel Sponsored Program: A High Yield..:

Dahir, Kathryn ; Rush, Eric ; Beltran, Daniel...
Journal of the Endocrine Society.  5 (2021)  Supplement_1 - p. A263-A263 , 2021
Link: https://doi.org/10.1210/..
 
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10

Clinical utility of a sponsored gene panel testing program ..:

Pang, Tiffany ; Truty, Rebecca ; McKnight, Dianalee A....
Molecular Genetics and Metabolism.  132 (2021)  - p. S204 , 2021
Link: https://doi.org/10.1016/..
 
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11

Elucidating clinical phenotypic variability associated with..:

Nykamp, Keith ; Truty, Rebecca ; Riethmaier, Darlene...
Human Mutation.  42 (2021)  9 - p. 1165-1172 , 2021
Link: https://doi.org/10.1002/..
 
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12

Comprehensive Genetic Testing for Pediatric Hypertrophic Ca..:

Gal, Dana B. ; Morales, Ana ; Rojahn, Susan...
Pediatric Cardiology.  43 (2021)  3 - p. 616-623 , 2021
Link: https://doi.org/10.1007/..
 
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13

Spectrum of splicing variants in disease genes and the abil..:

Truty, Rebecca ; Ouyang, Karen ; Rojahn, Susan...
The American Journal of Human Genetics.  108 (2021)  4 - p. 696-708 , 2021
Link: https://doi.org/10.1016/..
 
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14

Clinical utility of a sponsored gene panel testing program ..:

Pang, Tiffany ; Leal-Pardinas, Fernanda ; Truty, Rebecca...
Molecular Genetics and Metabolism.  132 (2021)  2 - p. S82 , 2021
Link: https://doi.org/10.1016/..
 
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15

A comprehensive locus specific database of PHEX gene varian..:

Miller, Nicole ; Daugherty, Sean ; Sarafrazi, Soodabeh...
Molecular Genetics and Metabolism.  132 (2021)  - p. S133 , 2021
Link: https://doi.org/10.1016/..
 
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