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Rebekah K. Jobling
Rebekah K. Jobling
Medicine
Angelman syndrome
RNA splicing
Genetics
DNA sequencing
4
Papers
3
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0
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Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot
2021
Miriam S. Reuter
Rajiv R. Chaturvedi
Rebekah K. Jobling
Giovanna Pellecchia
Omar Hamdan
Wilson W.L. Sung
Thomas Nalpathamkalam
Pratyusha Attaluri
Candice K. Silversides
Rachel M. Wald
Christian R. Marshall
Simon G. Williams
Bernard Keavney
Bhooma Thiruvahindrapuram
Stephen W. Scherer
Anne S. Bassett
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Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.
2021
Iris Cohn
Roozbeh Manshaei
Eriskay Liston
John B. A. Okello
Reem Khan
Meredith Curtis
Abby J. Krupski
Rebekah K. Jobling
Kelsey Kalbfleisch
Tara Paton
Miriam S. Reuter
Robin Z. Hayeems
Ruud H. J. Verstegen
Aaron Goldman
Raymond H. Kim
Shinya Ito
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Multiple Endocrine Neoplasias and Associated Non-endocrine Conditions
2021
Rebekah K. Jobling
Jonathan D. Wasserman
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A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
2020
American Journal of Medical Genetics Part A
Meredith Curtis
Danielle A. Baribeau
Susan Walker
Melissa T. Carter
Gregory Costain
Sylvia Lamoureux
Eriskay Liston
Christian R. Marshall
Miriam S. Reuter
Meaghan Snell
Jane Summers
Jacob A. S. Vorstman
Rebekah K. Jobling
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