Faculty profile
Rebekah Jobling
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Read how they describe their research on their University of Toronto profile.
Latest papers
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.
Prenatal diagnosis · 2025
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Genetics in medicine : official journal of the American College of Medical Genetics · 2023
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
EMBO molecular medicine · 2021
Latest funding
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
CIHR · 2021 · Co-investigator
- $100,000
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
CIHR · 2020 · Co-investigator
- $2,000,000
The Genetics Navigator: A novel digital platform for delivering personalized genetic services
CIHR · 2020 · Co-investigator
11 publications.
KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis.
Ghannad-Zadeh K, Shannon P, Jobling R, Miller E, Chong K, Mathews E, Chitayat D, Shinar S
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
van der Welle REN, Jobling R, Burns C, Sanza P, van der Beek JA, Fasano A, Chen L, Zwartkruis FJ, Zwakenberg S, Griffin EF, Ten Brink C, Veenendaal T, Liv N, van Ravenswaaij-Arts CMA, Lemmink HH, Pfundt R, Blaser S, Sepulveda C, Lozano AM, Yoon G, Santiago-Sim T, Asensio CS, Caldwell GA, Caldwell KA, Chitayat D, Klumperman J
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Al Balushi A, Matviychuk D, Jobling R, Salomons GS, Blaser S, Mercimek-Andrews S
Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis
Jonathan H. Rayment, Rebekah Jobling, Sarah C. Bowdin, Ernest Cutz, Sharon Dell
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M
Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1.
Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D
Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.
Straub J, Konrad EDH, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, Dubbs H, Douglas G, Jobling R, Johnson D, Krock B, Mikati MA, Nesbitt A, Nicolai J, Phillips M, Poduri A, Ortiz-Gonzalez XR, Powis Z, Santani A, Smith L, Stegmann APA, Stumpel C, Vreeburg M, Deciphering Developmental Disorders Study, Fliedner A, Gregor A, Sticht H, Zweier C
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP
Peroxisomal D-bifunctional protein deficiency
Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJA
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
Principal investigators: Bombard, Yvonne; Hayeems, Robin Z
Keywords: E-Health Tools; Genomics; Patient Facing Health Tools; Personalized Healthcare; Randomized Controlled Trial; User-Centered Design
The Genetics Navigator: A novel digital tool to advance quality and equity in genomic medicine
Principal investigators: Bombard, Yvonne; Hayeems, Robin Z
Keywords: E-Health Tools; Genomics; Patient Facing Health Tools; Personalized Healthcare; Randomized Controlled Trial; User-Centered Design
The Genetics Navigator: A novel digital platform for delivering personalized genetic services
Principal investigators: Bombard, Yvonne; Chad, Lauren; Hayeems, Robin Z; Mamdani, Muhammad; Smith, Maureen M
Keywords: Chatbots; Comparative Effectiveness Research; Cost-Effectiveness Analysis; E-Health Tools; Genomic Sequencing; Patient/User Experience; Predictive Algorithms; Qualitative Research; Randomized Controlled Trial; User-Centered Design
From public funding decisions: CIHR since 2008, NSERC since 1991 and SSHRC since 1998 with their latest competition results, the Canada Foundation for Innovation, Genome Canada, the Canadian Space Agency, Canada Research Chairs, the Fonds de recherche du Québec, Ontario research funding, Michael Smith Health Research BC, the Canadian Cancer Society, Heart & Stroke and Brain Canada.
Frequent collaborators
- Stephen Scherer and Christian Marshall: 210 shared papers
- David Chitayat and Patrick Shannon: 36 shared papers
- David Chitayat and Shiri Shinar: 16 shared papers
- Shiri Shinar and Elka Miller: 16 shared papers
- Christian Marshall and Roberto Mendoza-Londono: 15 shared papers
- Patrick Shannon and Shiri Shinar: 13 shared papers
- Benjamin Alman and Andrew Howard: 12 shared papers
- Stephen Scherer and Roberto Mendoza-Londono: 11 shared papers
- Christian Marshall and Grace Yoon: 11 shared papers
- Peter Kannu and Roberto Mendoza-Londono: 10 shared papers
- Mark Tarnopolsky and Christian Marshall: 9 shared papers
- Stephen Scherer and David Chitayat: 9 shared papers
- Andrew Howard and Peter Kannu: 9 shared papers
- Mark Tarnopolsky and Grace Yoon: 8 shared papers
- David Chitayat and Elka Miller: 8 shared papers
- Patrick Shannon and Elka Miller: 8 shared papers
- Andrew Howard and Roberto Mendoza-Londono: 7 shared papers
- Grace Yoon and Roberto Mendoza-Londono: 7 shared papers
- Peter Kannu and Christian Marshall: 6 shared papers
- Mark Tarnopolsky and Murray Alexander Potter: 5 shared papers
- Mark Tarnopolsky and Amadeo Raul Rodriguez: 4 shared papers
- Stephen Scherer and Gino Somers: 4 shared papers
- David Chitayat and Michal Inbar-Feigenberg: 4 shared papers
- Michal Inbar-Feigenberg and Roberto Mendoza-Londono: 4 shared papers
- Murray Alexander Potter and Michal Inbar-Feigenberg: 3 shared papers
- Stephen Scherer and Alfonso Fasano: 3 shared papers
- David Chitayat and Rebekah Jobling: 3 shared papers
- Tiago Mestre and Alfonso Fasano: 3 shared papers
- Rebekah Jobling and Roberto Mendoza-Londono: 3 shared papers
- Benjamin Alman and Peter Kannu: 2 shared papers
- David Chitayat and Alfonso Fasano: 2 shared papers
- Peter Kannu and Rebekah Jobling: 2 shared papers
- Christian Marshall and Rebekah Jobling: 2 shared papers
- Grace Yoon and Rebekah Jobling: 2 shared papers
- Rohan D'Souza and David Chitayat: 1 shared paper
- Rohan D'Souza and Peter Kannu: 1 shared paper
- Rohan D'Souza and Rebekah Jobling: 1 shared paper
- Mark Tarnopolsky and Tiago Mestre: 1 shared paper
- Mark Tarnopolsky and Liesly Lee: 1 shared paper
- Mark Tarnopolsky and Rebekah Jobling: 1 shared paper
- Murray Alexander Potter and Suzanne Laughlin: 1 shared paper
- Murray Alexander Potter and Rebekah Jobling: 1 shared paper
- Amadeo Raul Rodriguez and Stephen Scherer: 1 shared paper
- Amadeo Raul Rodriguez and Tiago Mestre: 1 shared paper
- Amadeo Raul Rodriguez and Liesly Lee: 1 shared paper
- Amadeo Raul Rodriguez and Rebekah Jobling: 1 shared paper
- Benjamin Alman and Stephen Scherer: 1 shared paper
- Benjamin Alman and Gino Somers: 1 shared paper
- Benjamin Alman and Rebekah Jobling: 1 shared paper
- Stephen Scherer and Liesly Lee: 1 shared paper
- Stephen Scherer and Rebekah Jobling: 1 shared paper
- David Chitayat and Gino Somers: 1 shared paper
- David Chitayat and David Chiasson: 1 shared paper
- Tiago Mestre and Rebekah Jobling: 1 shared paper
- Jonathan Rayment and Rebekah Jobling: 1 shared paper
- Alfonso Fasano and Rebekah Jobling: 1 shared paper
- Andrew Howard and Rebekah Jobling: 1 shared paper
- Gino Somers and Rebekah Jobling: 1 shared paper
- David Chiasson and Rebekah Jobling: 1 shared paper
- Patrick Shannon and Suzanne Laughlin: 1 shared paper
- Patrick Shannon and Rebekah Jobling: 1 shared paper
- Liesly Lee and Rebekah Jobling: 1 shared paper
- Suzanne Laughlin and Shiri Shinar: 1 shared paper
- Suzanne Laughlin and Rebekah Jobling: 1 shared paper
- Shiri Shinar and Rebekah Jobling: 1 shared paper
- Elka Miller and Rebekah Jobling: 1 shared paper
- Michal Inbar-Feigenberg and Rebekah Jobling: 1 shared paper
- Department of Paediatrics
- Department of Laboratory Medicine & Pathobiology
- Department of Surgery
- Department of Medicine
- Department of Medical Imaging
- Department of Pediatrics
- Medical Genetics Dept
- Other
Co-authors at University of Toronto, colored by department. Thicker lines mean more shared papers; select anyone to open their profile and their own map.
Roberto Mendoza-Londono
Department of Paediatrics
3 shared papers, latest 2023
David Chitayat
Department of Paediatrics
3 shared papers, latest 2025
Christian Marshall
Department of Laboratory Medicine & Pathobiology
2 shared papers, latest 2015
Grace Yoon
Department of Paediatrics
2 shared papers, latest 2021
Peter Kannu
Medical Genetics Dept
2 shared papers, latest 2015
Benjamin Alman
Department of Surgery
1 shared papers, latest 2015
Stephen Scherer
Department of Molecular Genetics
1 shared papers, latest 2014
Sarah Bowdin
Department of Computer Science
1 shared papers, latest 2019
Tiago Mestre
Department of Communication
1 shared papers, latest 2014
Jonathan Rayment
Department of Pediatrics
1 shared papers, latest 2019
Alfonso Fasano
Department of Medicine
1 shared papers, latest 2021
Andrew Howard
Department of Surgery
1 shared papers, latest 2015
Gino Somers
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2015
David Chiasson
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2019
Patrick Shannon
Department of Laboratory Medicine & Pathobiology
1 shared papers, latest 2025
Liesly Lee
Department of Medicine
1 shared papers, latest 2014
Suzanne Laughlin
Department of Medical Imaging
1 shared papers, latest 2019
Shiri Shinar
Department of Obstetrics & Gynaecology
1 shared papers, latest 2025
Elka Miller
Department of Medical Imaging
1 shared papers, latest 2025
Rohan D'Souza
Obstetrics & Gynecology
1 shared papers, latest 2014
Michal Inbar-Feigenberg
Department of Paediatrics
1 shared papers, latest 2019
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Profile data last refreshed on September 29, 2026 from the university directory, publication records and public research funding records.