Concepedia

Rebekah Jobling

RJ

Statistics

Publications

33

Citations

2.7K

H-Index

23

Active since

2011

Affiliations

Hospital for Sick Children(Current)

University of Toronto

SickKids Foundation

University Health Network

Ted Rogers Centre for Heart Research

Rebekah Jobling is an author at Hospital for Sick Children specializing in genetics, medical genetics, and life sciences.

ORCID

Publications per year

2011–2024

33

Publications

33

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

Anath C. Lionel, Gregory Costain, Nasim Monfared et al. · Genetics in Medicine · 2017 · 565 citations · Full text

, , +16

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 377 citations · Full text

, , +15

Reappraisal of Reported Genes for Sudden Arrhythmic Death

S. Mohsen Hosseini, Raymond H. Kim, Sharmila Udupa et al. · Circulation · 2018 · 370 citations · Full text

, , +13

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Gregory Costain, Rebekah Jobling, Susan Walker et al. · European Journal of Human Genetics · 2018 · 134 citations · Full text

, , +16

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Carol-Anne Martin, Kata Sarlós, Clare V. Logan et al. · The American Journal of Human Genetics · 2018 · 99 citations · Full text

, , +7

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