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Rebekah Jobling

the hospital for sick children

24H-index
84Paper Count
2.8KCitation Count
Published Papers 31
Publication Date
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort
err2026-03-24
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errOAAI
errJamie C. Stark; Neta Pipko; Yijing Liang; Anna Szuto; Chung Ting Tsoi; Megan A. Dickson; Kyoko E. Yuki; Huayun Hou; Sydney Scholten; Kenzie Pulsifer; Meryl Acker; Meredith Laver; Harsha Murthy; Olivia M. Moran; Emily Bonnell; Nicole Liang; Jashanpreet Sidhu; Lucie Dupuis; Mohammad M. Ghahramani Seno; Marisa Chard; Rebekah K. Jobling; Jessie Cameron; Rose Chami; Michal Inbar-Feigenberg; Michael D. Wilson; David A. Chitayat; Kym M. Boycott; Lianna Kyriakopoulou; Roberto Mendoza-Londono; Christian R. Marshall; James J. Dowling; Gregory Costain; Ashish R. Deshwar
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Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing
err2025-12-01
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PREAI
errCare, Melanie; Arbour, Laura; Brunham, Liam R.; Christian, Susan; Gagnon, Johannie; Hegele, Robert A.; Jobling, Rebekah; Oudit, Gavin Y.; Roston, Thomas M.; Zahavich, Laura; Laksman, Zachary
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
err2025-11-26
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errOAAI
errSébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
err2025-10-10
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PREAI
errRobin Z. Hayeems; Wendy J. Ungar; Christian R. Marshall; Meredith K. Gillespie; Anna Szuto; Lijia Huang; Viji Venkataramanan; Bowen Xiao; Caitlin Chisholm; D.James Stavropoulos; Mélanie Beaulieu Bergeron; Whiwon Lee; Gregory Costain; Rebekah Jobling; Sarah Sawyer; E.Magda Price; Lynette Lau; Roberto Mendoza; Martin J. Somerville; Kym M. Boycott
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A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B
err2025-09-30
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errOAAI
errEsra Erkut; Cherith Somerville; Marci L.B. Schwartz; Laura McDonald; Qiliang Ding; Olivia M. Moran; Xin Chen; Roozbeh Manshaei; Anne-Sophie Riedijk; Marie-Therese Schnürer; Daniel C. Koboldt; Stylianos E. Antonarakis; Emma C. Bedoukian; Xavier Blanc; Laura K. Conlin; Helen Cox; Karin E.M. Diderich; Bri Dingmann; Christèle Dubourg; Frances Elmslie; Luis F. Escobar; Rachel Gosselin; Maria J. Guillen Sacoto; Cynthia D. Haag; Lisa Herzig; Ramanand Jeeneea; Priti Kenia; Konstantinos Kolokotronis; Anna M. Kopps; Christin Kupper; Hayley Lees; Jacqueline Leonard; Jonathan Levy; Rebecca Littlejohn; Demian Mayer; Scott D. McLean; Nikhil Pattani; Laurence Perrin; Véronique Pingault; Chloé Quelin; Emmanuelle Ranza; Anita Rauch; Sara L. Reichert; Joana Rosmaninho-Salgado; Cara Skraban; Sérgio Sousa; Melissa Stuebben; Paolo Zanoni; Raymond H. Kim; Ian C. Scott; Rebekah K. Jobling
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KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis
err2025-05-02
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errOAAI
errGhannad-Zadeh, Kimia; Shannon, Patrick; Jobling, Rebekah; Miller, Elka; Chong, Karen; Mathews, Erin; Chitayat, David
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Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease
err2024-05-22
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errOAAI
errStanley, Kaitlin J.; Kalbfleisch, Kelsey J.; Moran, Olivia M.; Chaturvedi, Rajiv R.; Roifman, Maian; Chen, Xin; Manshaei, Roozbeh; Martin, Nicole; McDermott, Simina; McNiven, Vanda; Myles-Reid, Diane; Nield, Lynne E.; Reuter, Miriam S.; Schwartz, Marci L. B.; Shannon, Patrick; Silver, Rachel; Somerville, Cherith; Teitelbaum, Ronni; Zahavich, Laura; Bassett, Anne S.; Kim, Raymond H.; Mital, Seema; Chitayat, David; Jobling, Rebekah K.
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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
err2023-11-01
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errOAAI
errNil, Zelha; Deshwar, Ashish R.; Huang, Yan; Barish, Scott; Zhang, Xi; Choufani, Sanaa; Stabej, Polona Le Quesne; Hayes, Ian; Yap, Patrick; Haldeman-Englert, Chad; Wilson, Carolyn; Prescott, Trine; Tveten, Kristian; Vollo, Arve; Haynes, Devon; Wheeler, Patricia G.; Zon, Jessica; Cytrynbaum, Cheryl; Jobling, Rebekah; Blyth, Moira; Banka, Siddharth; Afenjar, Alexandra; Mignot, Cyril; Robin-Renaldo, Florence; Keren, Boris; Kanca, Oguz; Mao, Xiao; Wegner, Daniel J.; Sisco, Kathleen; Shinawi, Marwan; Wangler, Michael F.; Weksberg, Rosanna; Yamamoto, Shinya; Costain, Gregory; Bellen, Hugo J.
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Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum
err2023-08-01
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errOAAI
errPriestley, Jessica R. C.; Deshwar, Ashish R.; Murthy, Harsha; D'Agostino, Maria D.; Dupuis, Lucie; Gangaram, Balram; Gray, Christopher; Jobling, Rebekah; Pannia, Emanuela; Platzer, Konrad; Prescott, Katrina; Redman, Melody; Rippert, Alyssa L.; Rosenfeld, Jill A.; Scott, Daryl A.; Wang, Yi W.; Schmederer, Zelia; Dalal, Ashwin; Sarma, Asodu S.; Skraban, Cara; Dowling, James J.; Mendoza-Londono, Roberto; Slavotinek, Anne; Bhoj, Elizabeth J.
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Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery
err2023-01-11
err12
errOAAI
errLuca, Stephanie; Clausen, Marc; Shaw, Angela; Lee, Whiwon; Krishnapillai, Suvetha; Adi-Wauran, Ella; Faghfoury, Hanna R.; Costain, Gregory; Jobling, Rebekah; Aronson, Melyssa; Liston, Eriskay; Silver, Josh; Shuman, Cheryl; Chad, Lauren; Hayeems, Robin; Bombard, Yvonne J.; Genetics Navigator Study Team
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SCIP: software for efficient clinical interpretation of copy number variants detected by whole-genome sequencing
err2022-11-14
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errOAAI
errDing, Qiliang; Somerville, Cherith; Manshaei, Roozbeh; Trost, Brett; Reuter, Miriam S.; Kalbfleisch, Kelsey; Stanley, Kaitlin; Okello, John B. A.; Hosseini, S. Mohsen; Liston, Eriskay; Curtis, Meredith; Zarrei, Mehdi; Higginbotham, Edward J.; Chan, Ada J. S.; Engchuan, Worrawat; Thiruvahindrapuram, Bhooma; Scherer, Stephen W.; Kim, Raymond H.; Jobling, Rebekah K.
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A Model for the Integration of Genome Sequencing Into a Pediatric Cardiology Clinic
err2022-09-01
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errOAAI
errListon, 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.
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Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysis
err2022-05-01
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errOAAI
errJegathisawaran, Jathishinie; Tsiplova, Kate; Hayeems, Robin Z.; Marshall, Christian R.; Stavropoulos, Dimitri J.; Pereira, Sergio L.; Thiruvahindrapuram, Bhooma; Liston, Eriskay; Reuter, Miriam S.; Manshaei, Roozbeh; Cohn, Iris; Jobling, Rebekah; Kim, Raymond H.; Mital, Seema; Ungar, Wendy J.
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Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot
err2021-08-01
err19
errOAAI
errReuter, 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.; Marshall, Christian R.; Williams, Simon G.; Keavney, Bernard D.; Thiruvahindrapuram, Bhooma; Scherer, Stephen W.; Bassett, Anne S.
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Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation
err2021-04-14
err26
errOAAI
errvan 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.; ten Brink, Corlinda; Veenendaal, Tineke; Liv, Nalan; van Ravenswaaij-Arts, Conny M. A.; Lemmink, Henny H.; Pfundt, Rolph; Blaser, Susan; Sepulveda, Carolina; Lozano, Andres M.; Yoon, Grace; Santiago-Sim, Teresa; Asensio, Cedric S.; Caldwell, Guy A.; Caldwell, Kim A.; Chitayat, David; Klumperman, Judith
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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations (vol 143, pg 2911, 2020)
errBRAIN
IF11.7
err2021-01-12
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errOAAI
errDiaz, Jorge; Gerard, Xavier; Emerit, Michel-Boris; Areias, Julie; Geny, David; Degardin, Julie; Simonutti, Manuel; Guerquin, Marie-Justine; Collin, Thibault; Viollet, Cecile; Billard, Jean-Marie; Metin, Christine; Hubert, Laurence; Larti, Farzaneh; Kahrizi, Kimia; Jobling, Rebekah; Agolini, Emanuele; Shaheen, Ranad; Zigler, Alban; Rouiller-Fabre, Virginie; Rozet, Jean-Michel; Picaud, Serge; Novelli, Antonio; Alameer, Seham; Najmabadi, Hossein; Cohn, Ronald; Munnich, Arnold; Barth, Magalie; Lugli, Licia; Alkuraya, Fowzan S.; Blaser, Susan; Gashlan, Maha; Besmond, Claude; Le Darmon, Miche; Masson, Justine
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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice
err2020-12-04
err16
errOAAI
errMartin, Ella M. M. A.; Enriquez, Annabelle; Sparrow, Duncan B.; Humphreys, David T.; McInerney-Leo, Aideen M.; Leo, Paul J.; Duncan, Emma L.; Iyer, Kavitha R.; Greasby, Joelene A.; Ip, Eddie; Giannoulatou, Eleni; Sheng, Delicia; Wohler, Elizabeth; Dimartino, Clemantine; Amiel, Jeanne; Capri, Yline; Lehalle, Daphne; Mory, Adi; Wilnai, Yael; Lebenthal, Yael; Gharavi, Ali G.; Krzemien, Grazyna G.; Miklaszewska, Monika; Steiner, Robert D.; Raggio, Cathy; Blank, Robert; Feldman, Hagit Baris; Rasouly, Hila Milo; Sobreira, Nara L. M.; Jobling, Rebekah; Gordon, Christopher T.; Giampietro, Philip F.; Dunwoodie, Sally L.; Chapman, Gavin
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YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations
errBRAIN
IF11.7
err2020-10-25
err15
errOAAI
errDiaz, Jorge; Gerard, Xavier; Emerit, Michel-Boris; Areias, Julie; Geny, David; Degardin, Julie; Simonutti, Manuel; Guerquin, Marie-Justine; Collin, Thibault; Viollet, Cecile; Billard, Jean-Marie; Metin, Christine; Hubert, Laurence; Larti, Farzaneh; Kahrizi, Kimia; Jobling, Rebekah; Agolini, Emanuele; Shaheen, Ranad; Zigler, Alban; Rouiller-Fabre, Virginie; Rozet, Jean-Michel; Picaud, Serge; Novelli, Antonio; Alameer, Seham; Najmabadi, Hossein; Cohn, Ronald; Munnich, Arnold; Barth, Magalie; Lugli, Licia; Alkuraya, Fowzan S.; Blaser, Susan; Gashlan, Maha; Besmond, Claude; Darmon, Michele; Masson, Justine
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The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
err2020-06-01
err53
errOAAI
errReuter, Miriam S.; Chaturvedi, Rajiv R.; Liston, Eriskay; Manshaei, Roozbeh; Aul, Ritu B.; Bowdin, Sarah; Cohn, Iris; Curtis, Meredith; Dhir, Priya; Hayeems, Robin Z.; Hosseini, S. Mohsen; Khan, Reem; Ly, Linh G.; Marshall, Christian R.; Mertens, Luc; Okello, John B. A.; Pereira, Sergio L.; Raajkumar, Akshaya; Seed, Mike; Thiruvahindrapuram, Bhooma; Scherer, Stephen W.; Kim, Raymond H.; Jobling, Rebekah K.
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