Rebekah Jobling

ScholarGPS® ID: 36361635327339

Affiliation

Hospital for Sick Children, Toronto, Canada

Affiliation History

Field

Life Sciences

Discipline

Genetics

Top Specialties

Medical Genetics | Whole Genome Sequencing | Genomics | Exome Sequencing

Metrics Summary

Publication Count

Predicted Citations

1,212

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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Exercise-Induced Cardiac Arrest in a Child: A Case Report (journal article) Katz-Dana, Hadas \| Lekchuensakul, Sarin \| Hamilton, Robert \| Zahavich, Laura \| Jobling, Rebekah K. \| Ratnapalan, Savithiri Clinical Pediatrics (2024). 10.1177/00099228241254888 Cite \| Source
A call for increased inclusivity and global representation in pharmacogenetic testing (journal article) Kennedy, April \| Ma, Gabriel \| Manshaei, Roozbeh \| Jobling, Rebekah K. \| Kim, Raymond H. \| Lewis, Tamorah \| Cohn, Iris npj Genomic Medicine, volume 9, issue 1 (2024). 10.1038/s41525-024-00403-1 Cited by (1) \| Cite \| Source
P474: Precision child health: Integrating a consultative pharmacogenetics (PGx) program into clinical care at the Hospital for Sick Children* (journal article) Cohn, Iris \| Moran, Olivia \| Stanley, Kaitlin \| Scodellaro, Sierra \| Kennedy, April \| Manshaei, Roozbeh \| Verstegen, Ruud \| Ito, Shinya \| Jobling, Rebekah \| Lewis, Tamorah \| Kim, Raymond Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101373 Cite \| Source
P228: Molecular and clinical analyses of LRP1 and LRP2 variants in human congenital cardiac left-sided lesions (journal article) Chen, Xin \| Ding, Qiliang \| Manshaei, Roozbeh \| Schwartz, Marci \| Moran, Olivia \| Stanley, Kaitlin \| Kim, Raymond \| Jobling, Rebekah Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101125 Cite \| Source
P218: SMAD6 variants in congenital heart disease (journal article) Schwartz, Marci \| Moran, Olivia \| Chen, Xin \| Manshaei, Roozbeh \| Kalbfleisch, Kelsey \| Kim, Raymond \| Jobling, Rebekah Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101115 Cite \| Source
P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene (journal article) Moran, Olivia \| Somerville, Cherith \| Reuter, Miriam \| Kalbfleisch, Kelsey \| Schwartz, Marci \| Chen, Xin \| Manshaei, Roozbeh \| Kim, Raymond \| Mital, Seema \| Jobling, Rebekah Genetics in Medicine Open, volume 2 (2024). 10.1016/j.gimo.2024.101066 Cite \| Source
SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing (journal article) Ding, Qiliang \| Somerville, Cherith \| Manshaei, Roozbeh \| Trost, Brett \| Reuter, Miriam S. \| Kalbfleisch, Kelsey \| Stanley, Kaitlin \| Okello, John B. A. \| Hosseini, S. Mohsen \| Liston, Eriskay \| ... \| Jobling, Rebekah K. Human Genetics, volume 142, issue 2, pages 201-216 (2023). 10.1007/s00439-022-02494-1 Cited by (2) \| Cite \| Source
Compound Heterozygous PLD1 Variants in Right-Sided Heart Malformations (journal article) Somerville, Cherith \| Kalbfleisch, Kelsey \| Manshaei, Roozbeh \| Ding, Qiliang \| B.A. Okello, John \| Silver, Rachel \| Chitayat, David \| Thakur, Varsha \| Villemain, Olivier \| Jobling, Rebekah Congenital Heart Disease, volume 18, issue 2, pages 213-218 (2023). 10.32604/chd.2023.023042 Cite \| Source
GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation (journal article) Manshaei, Roozbeh \| DeLong, Sean \| Andric, Veronica \| Joshi, Esha \| Okello, John B. A. \| Dhir, Priya \| Somerville, Cherith \| Farncombe, Kirsten M. \| Kalbfleisch, Kelsey \| Jobling, Rebekah K. \| ... \| Hosseini, S. Mohsen BMC Medical Genomics, volume 15, issue 1 (2022). 10.1186/s12920-022-01166-3 Cite \| Source
EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support (journal article) Vogt, Lindsey M. \| Lorenzo, Melissa \| B. Prendergast, D'Arcy \| Jobling, Rebekah \| Gill, Peter J. American Journal of Medical Genetics Part A, volume 188, issue 10, pages 3106-3109 (2022). 10.1002/ajmg.a.62932 Cited by (1) \| Cite \| Source
A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic (journal article) Liston, Eriskay J. \| Kalbfleisch, Kelsey J. \| Stanley, Kaitlin J. \| Chaturvedi, Rajiv R. \| Cohn, Iris \| Farncombe, Kirsten M. \| Hayeems, Robin Z. \| Schwartz, Marci L.B. \| Somerville, Cherith B. \| Kim, Raymond H. \| Jobling, Rebekah K. Canadian Journal of Cardiology, volume 38, issue 9, pages 1454-1457 (2022). 10.1016/j.cjca.2022.04.015 Cited by (1) \| Cite \| Source
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis (journal article) Jegathisawaran, Jathishinie \| Tsiplova, Kate \| Hayeems, Robin Z. \| Marshall, Christian R. \| Stavropoulos, Dimitri J. \| Pereira, Sergio L. \| Thiruvahindrapuram, Bhooma \| Liston, Eriskay \| Reuter, Miriam S. \| Manshaei, Roozbeh \| ... \| Ungar, Wendy J. Genetics in Medicine, volume 24, issue 5, pages 1027-1036 (2022). 10.1016/j.gim.2022.01.020 Cited by (9) \| Cite \| Source
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot (journal article) Reuter, Miriam S. \| Chaturvedi, Rajiv R. \| Jobling, Rebekah K. \| Pellecchia, Giovanna \| Hamdan, Omar \| Sung, Wilson W.L. \| Nalpathamkalam, Thomas \| Attaluri, Pratyusha \| Silversides, Candice K. \| Wald, Rachel M. \| ... \| Bassett, Anne S. Circulation: Genomic and Precision Medicine, volume 14, issue 4 (2021). 10.1161/CIRCGEN.121.003410 Cited by (13) \| Cite \| Source
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation (journal article) van der Welle, Reini E N \| Jobling, Rebekah \| Burns, Christian \| Sanza, Paolo \| van der Beek, Jan A \| Fasano, Alfonso \| Chen, Lan \| Zwartkruis, Fried J \| Zwakenberg, Susan \| Griffin, Edward F \| ... \| Klumperman, Judith EMBO Molecular Medicine, volume 13, issue 5 (2021). 10.15252/emmm.202013258 Cited by (23) \| Cite \| Source
Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting (journal article) Cohn, Iris \| Manshaei, Roozbeh \| Liston, Eriskay \| Okello, John B. A. \| Khan, Reem \| Curtis, Meredith R. \| Krupski, Abby J. \| Jobling, Rebekah K. \| Kalbfleisch, Kelsey \| Paton, Tara A. \| ... \| Ito, Shinya JAMA Network Open, volume 4, issue 5, pages e2110446- (2021). 10.1001/jamanetworkopen.2021.10446 Cited by (22) \| Cite \| Source
Multiple Endocrine Neoplasias and Associated Non-endocrine Conditions (book chapter) In The Hereditary Basis of Childhood Cancer Jobling, Rebekah K. \| Wasserman, Jonathan D. Springer International Publishing (2021) 10.1007/978-3-030-74448-9_8 Cite \| Source
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences (journal article) Manshaei, Roozbeh \| Merico, Daniele \| Reuter, Miriam S. \| Engchuan, Worrawat \| Mojarad, Bahareh A. \| Chaturvedi, Rajiv \| Heung, Tracy \| Pellecchia, Giovanna \| Zarrei, Mehdi \| Nalpathamkalam, Thomas \| ... \| Bassett, Anne S. Frontiers in Genetics, volume 11 (2020). 10.3389/fgene.2020.00957 Cited by (24) \| Cite \| Source
A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome (journal article) Curtis, Meredith \| Baribeau, Danielle \| Walker, Susan \| Carter, Melissa \| Costain, Gregory \| Lamoureux, Sylvia \| Liston, Eriskay \| Marshall, Christian R. \| Reuter, Miriam S. \| Snell, Meaghan \| ... \| Jobling, Rebekah K. American Journal of Medical Genetics Part A, volume 182, issue 9, pages 2145-2151 (2020). 10.1002/ajmg.a.61740 Cited by (2) \| Cite \| Source
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease (journal article) Reuter, Miriam S. \| Chaturvedi, Rajiv R. \| Liston, Eriskay \| Manshaei, Roozbeh \| Aul, Ritu B. \| Bowdin, Sarah \| Cohn, Iris \| Curtis, Meredith \| Dhir, Priya \| Hayeems, Robin Z. \| ... \| Jobling, Rebekah K. Genetics in Medicine, volume 22, issue 6, pages 1015-1024 (2020). 10.1038/s41436-020-0757-x Cited by (50) \| Cite \| Source
Aplasia cutis congenita associated with a heterozygous loss‐of‐function UBA2 variant (journal article) Wang, Y. \| Dupuis, L. \| Jobling, R. \| Kannu, P. British Journal of Dermatology, volume 182, issue 3, pages 792-794 (2020). 10.1111/bjd.18594 Cited by (4) \| Cite \| Source