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Rebekah Jobling

TitleAssociate Director, Genome Diagnostics
InstitutionThe Hospital for Sick Children
DepartmentPaediatric Laboratory Medicine (PLM)
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Bourque DK, Fonseca IC, Staines A, Teitelbaum R, Axford MM, Jobling R, Chiasson D, Chitayat D. Alveolar capillary dysplasia with misalignment of the pulmonary veins and hypoplastic left heart sequence caused by an in frame deletion within FOXF1. Am J Med Genet A. 2019 May 09. PMID: 31074124.
      View in: PubMed
    2. Rayment JH, Jobling R, Bowdin S, Cutz E, Dell SD. Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis. ERJ Open Res. 2019 Apr; 5(2). PMID: 31041317.
      View in: PubMed
    3. Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M. Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B. Mol Genet Metab Rep. 2019 Mar; 18:11-13. PMID: 30619713.
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    4. Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot. Genet Med. 2019 04; 21(4):1001-1007. PMID: 30232381.
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    5. Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH. Reappraisal of Reported Genes for Sudden Arrhythmic Death. Circulation. 2018 Sep 18; 138(12):1195-1205. PMID: 29959160.
      View in: PubMed
    6. Jobling R, Stavropoulos DJ, Marshall CR, Cytrynbaum C, Axford MM, Londero V, Moalem S, Orr J, Rossignol F, Lopes FD, Gauthier J, Alos N, Rupps R, McKinnon M, Adam S, Nowaczyk MJM, Walker S, Scherer SW, Nassif C, Hamdan FF, Deal CL, Soucy JF, Weksberg R, Macleod P, Michaud JL, Chitayat D. Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders. J Med Genet. 2018 May; 55(5):316-321. PMID: 29599419.
      View in: PubMed
    7. Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018 05; 26(5):740-744. PMID: 29453418.
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    8. 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, Fliedner A, Gregor A, Sticht H, Zweier C. Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila. Am J Hum Genet. 2018 01 04; 102(1):44-57. PMID: 29276004.
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    9. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    10. Jobling RK, Lara-Corrales I, Hsiao MC, Shugar A, Hedges S, Messiaen L, Kannu P. Mosaicism for a SPRED1 deletion revealed in a patient with clinically suspected mosaic neurofibromatosis. Br J Dermatol. 2017 04; 176(4):1077-1078. PMID: 27423141.
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    11. Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR. Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine. NPJ Genom Med. 2016 Jan 13; 1. PMID: 28567303.
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    12. 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. Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. Am J Hum Genet. 2015 Dec 03; 97(6):837-47. PMID: 26637977.
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    13. Avila M, Dyment DA, Sagen JV, St-Onge J, Moog U, Chung BHY, Mo S, Mansour S, Albanese A, Garcia S, Martin DO, Lopez AA, Claudi T, König R, White SM, Sawyer SL, Bernstein JA, Slattery L, Jobling RK, Yoon G, Curry CJ, Merrer ML, Luyer BL, Héron D, Mathieu-Dramard M, Bitoun P, Odent S, Amiel J, Kuentz P, Thevenon J, Laville M, Reznik Y, Fagour C, Nunes ML, Delesalle D, Manouvrier S, Lascols O, Huet F, Binquet C, Faivre L, Rivière JB, Vigouroux C, Njølstad PR, Innes AM, Thauvin-Robinet C. Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management. Clin Genet. 2016 Apr; 89(4):501-506. PMID: 26497935.
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    14. Marshall CR, Scherer SW, Zariwala MA, Lau L, Paton TA, Stockley T, Jobling RK, Ray PN, Knowles MR, Hall DA, Dell SD, Kim RH. Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. G3 (Bethesda). 2015 Jul 02; 5(8):1775-81. PMID: 26139845.
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    15. Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. Brain. 2015 Jun; 138(Pt 6):1505-17. PMID: 25808372.
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    16. Lines MA, Jobling R, Brady L, Marshall CR, Scherer SW, Rodriguez AR, Lee L, Lang AE, Mestre TA, Wanders RJ, Ferdinandusse S, Tarnopolsky MA. Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing. Neurology. 2014 Mar 18; 82(11):963-8. PMID: 24553428.
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    17. Jobling R, D'Souza R, Baker N, Lara-Corrales I, Mendoza-Londono R, Dupuis L, Savarirayan R, Ala-Kokko L, Kannu P. The collagenopathies: review of clinical phenotypes and molecular correlations. Curr Rheumatol Rep. 2014 Jan; 16(1):394. PMID: 24338780.
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    18. Jobling RK, Kannu P, Licht C, Carter MT. The first report of nephrocalcinosis in a patient with a 16q23.1-16q23.3 deletion, global developmental delay, trigonocephaly, and portocaval shunt. Clin Dysmorphol. 2013 Oct; 22(4):152-5. PMID: 24326958.
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    19. Jobling R, Ferrier RA, McLeod R, Petrin AL, Murray JC, Thomas MA. Monozygotic twins with variable expression of Van der Woude syndrome. Am J Med Genet A. 2011 Aug; 155A(8):2008-10. PMID: 21739575.
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    20. Sarkany RP, Anstey A, Diffey BL, Jobling R, Langmack K, McGregor JM, Moseley H, Murphy GM, Rhodes LE, Norris PG. Home phototherapy: report on a workshop of the British Photodermatology Group, December 1996. Br J Dermatol. 1999 Feb; 140(2):195-9. PMID: 10733266.
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