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J

James J. Dowling

university of toronto

65H-index
406Paper Count
1.5WCitation Count
Published Papers 137
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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AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy
err2026-02-18
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PREAI
errEmanuela Pannia; Rebecca Simonian; Nesrin Sabha; Nika Maani; Yingxuan Zhu; Sophie Karolczak; Vanessa Raileanu; Teodoro Bottiglieri; Gaia Andreoletti; Rachel D. Edgar; Sonya A. MacParland; Aleksandra Mitina; Clara E. Cho; Michael W. Lawlor; Kirsten E. Coleman; Barry J. Byrne; Ashish R. Deshwar; James J. Dowling
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Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
errBrain
IF11.7
err2026-01-01
err1
PREAI
errMurthy, Harsha; Hoang, Ny; Stark, Jamie C.; Cui, Sunny; Pannia, Emanuela; Tsoi, Chung Ting; Harris, Simon; Ceolin, C'airah; Verhaeghe, Lauren; Scholten, Sydney; Baribeau, Danielle; Summers, Jane; Costain, Gregory; Selvanayagam, Thanuja; Howe, Jennifer L.; Lewis, M. E. Suzanne; Brunet, Theresa; Rieger, Susanne; Rosenfeld, Jill A.; Craigen, William J.; Burrage, Lindsay C.; Christie, Michelle R.; Baldwin, Deborah; Wentzensen, Ingrid M.; Keren, Boris; Cogne, Benjamin; Isidor, Bertrand; Afenjar, Alexandra; Elshafie, Reem M.; Bastaki, Laila; Alkanderi, Sumaya; Myers, Kenneth A.; Demarest, Scott; Angione, Katie; Abbott, Megan; Campeau, Philippe M.; Dowling, James J.; Mendoza-Londono, Roberto; Scherer, Stephen W.; Deshwar, Ashish R.; Vorstman, Jacob
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Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: a retrospective cohort study
err2025-10-11
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PREAI
errDavid Cheerie; Marlen C. Lauffer; Logan Newton; Kimberly Amburgey; Danique Beijer; Bushra Haque; Brian T. Kalish; Margaret Meserve; Rachel Y. Oh; Amy Y. Pan; Miriam S. Reuter; Michael J. Szego; Anna Szuto; Annemieke Aartsma-Rus; Michelle M. Axford; Ashish R. Deshwar; James J. Dowling; Christian R. Marshall; Zhenya Ivakine; Matthis Synofzik; Timothy W. Yu; Gregory Costain
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Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
err2025-06-10
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PREAI
errJustyne E Ross; May Flowers; Shannon McNulty; Mayher Patel; Hui Yang; Brooke Palus; Marwa Abdelmoneim Elnagheeb; Lucy Eng; Emma Owens; Alan H Beggs; Enrico Bertini; Adele D'Amico; Sandra Donkervoort; James Dowling; Fabiana Fattori; Ana Ferreiro; Casie A Genetti; Hernan Gonorazky; Monkol Lek; Amanda Lindy; Livija Medne; Francesco Muntoni; Sander Pajusalu; Katarina Pelin; John Rendu; Anna Sarkozy; Matteo Vatta; Tom Winder; Grace Yoon; Carsten G Bönnemann; Ozge Ceyhan-Birsoy
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Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion
err2025-03-20
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errOAAI
errCoulson, Zachary; Kolb, Justin; Sabha, Nesrin; Karimi, Esmat; Hourani, Zaynab; Ottenheijm, Coen; Granzier, Henk; Dowling, James J.
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X-linked myopathy with excessive autophagy: characterization and therapy testing in a zebrafish model
err2025-02-24
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PREAI
errHuang, Lily; Simonian, Rebecca; Lopez, Michael A.; Karuppasamy, Muthukumar; Sanders, Veronica M.; English, Katherine G.; Fabian, Lacramioara; Alexander, Matthew S.; Dowling, James J.
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Characterization of a novel zebrafish model of MTMR5-associated Charcot-Marie-Tooth disease type 4B3
err2025-02-18
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errOAAI
errLindzon, Jordan; List, Maia; Geissah, Salma; Ariaz, Atai; Zhao, Mo; Dowling, James J.
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Integrin α5β1 represents a novel therapeutic target to improve vascular remodeling in pulmonary arterial hypertension
err2024-11-12
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PREAI
errLemay, Sarah-Eve; Montesinos, Monica; Grobs, Yann; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Romanet, Charlotte; Sauvaget, Melanie; Bonnet, Sandra Breuils; Bourgeois, Alice; Theberge, Charlie; Martineau, Sandra; Lippa, Blaise; Goodwin, Bryan; Lin, Albert; Wang, Hua; Dowling, James; Lu, Min; Qiao, Qi; McTeague, T. Andrew; Moy, Terence I.; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien
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Integrin α5β1 contributes to pathological remodeling of the right ventricle in pulmonary arterial hypertension
err2024-11-12
err0
PREAI
errLemay, Sarah-Eve; Montesinos, Monica; Grobs, Yann; Bourgeois, Alice; Romanet, Charlotte; Sauvaget, Melanie; Bonnet, Sandra Breuils; Theberge, Charlie; Martineau, Sandra; Lippa, Blaise; Goodwin, Bryan; Lin, Albert; Wang, Hua; Dowling, James; Lu, Min; Qiao, Qi; McTeague, T. Andrew; Moy, Terence I.; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien
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Treatment of pulmonary arterial hypertension by blocking integrin a5b1, a potential disease-modifying strategy
err2024-11-12
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PREAI
errMontesinos, Monica; Lemay, Sarah-Eve; Kapoor, Parmita; Rapisardi, Hailey; Minh Hai Nguyen; Kim, Haejin; Akram, Muzaffar; Jain, Dhawal; Konopka, Elizabeth; Moy, Terence I.; Smukste, Inese; McTeague, T. Andrew; Dowling, James; Lama, Sujan; Pondish, Jessica; Qiao, Qi; Monroy, Meghan Monroy; Lin, Albert; Wang, Hua; Boucherat, Olivier; Sauvaget, Melanie; Potus, Francois; Breuils, Sandra; Theberge, Charlie; Provencher, Steeve; Ray, Adrian; Lippa, Blaise; Bonnet, Sebastien; Goodwin, Bryan; Lu, Min
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Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
err2024-11-11
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errOAAI
errGhasempour, Sina; Warner, Neil; Guan, Rei; Rodari, Marco M.; Ivanochko, Danton; Whittaker Hawkins, Ryder; Marwaha, Ashish; Nowak, Jan K.; Liang, Yijing; Mulder, Daniel J.; Stallard, Lorraine; Li, Michael; Yu, Daniel D.; Pluthero, Fred G.; Batura, Vritika; Zhao, Mo; Siddiqui, Iram; Upton, Julia E. M.; Hulst, Jessie M.; Kahr, Walter H. A.; Mendoza-Londono, Roberto; Charbit-Henrion, Fabienne; Hoefsloot, Lies H.; Khiat, Anis; Moreira, Diana; Trindade, Eunice; Espinheira, Maria do Ceu; Pinto Pais, Isabel; Weerts, Marjolein J. A.; Douben, Hannie; Kotlarz, Daniel; Snapper, Scott B.; Klein, Christoph; Dowling, James J.; Julien, Jean-Philippe; Joosten, Marieke; Cerf-Bensussan, Nadine; Freeman, Spencer A.; Parlato, Marianna; van Ham, Tjakko J.; Muise, Aleixo M.
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Implication of Integrin α5β1 in right ventricular failure associated with pulmonary arterial hypertension
err2024-10-30
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PREAI
errLemay, Sarah-Eve; Montesinos, Monica S.; Grobs, Yann; Theberge, Charlie; Sauvaget, Melanie; Yokokawa, Tetsuro; Shimauchi, Tsukasa; Romanet, Charlotte; Bourgeois, Alice; Breuils-Bonnet, Sandra; Martineau, Sandra; Dowling, James E.; Lu, Min; Saxena, Parmita; Mcteague, T. Andrew; Goodwin, Bryan; Lippa, Blaise; Potus, Francois; Provencher, Steeve; Boucherat, Olivier; Bonnet, Sebastien
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Identification of integrin a5b1 inhibition as a potentially disease-modifying approach for the treatment of pulmonary arterial hypertension
err2024-10-30
err0
PREAI
errMontesinos, Monica; Lemay, Sarah-Eve; Saxena, Parmita; Rapisardi, Hailey; Nguyen, Minh Hai; Kim, Hae Jin; Akram, Muzaffar; Jain, Dhawal; Konopka, Elizabeth H.; Moy, Terence I.; Smukste, Inese; Mcteague, Andrew; Dowling, James E.; Lama, Sujan; Pondish, Jessica; Qiao, Qi; Monroy, Meghan; Lin, Fu-Yang; Wang, Hua; Boucherat, Olivier; Sauvaget, Melanie; Potus, Francois; Breuils-Bonnet, Sandra; Theberge, Charlie; Provencher, Steeve; Ray, Adrian S.; Lippa, Blaise; Bonnet, Sebastien; Goodwin, Bryan; Lu, Min
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The Discovery of MORF-627, a Highly Selective Conformationally-Biased Zwitterionic Integrin αvβ6 Inhibitor for Fibrosis
err2024-10-24
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PREAI
errHarrison, Bryce A.; Dowling, James E.; Bursavich, Matthew G.; Troast, Dawn M.; Chong, Katherine M.; Hahn, Kristopher N.; Zhong, Cheng; Mulvihill, Kristen M.; Nguyen, Hanh; Monroy, Meghan F.; Qiao, Qi; Sosa, Brian; Mostafavi, Siavash; Smukste, Inese; Lee, Dooyoung; Cappellucci, Laura; Konopka, Elizabeth H.; Nowakowski, Patrycja; Stawski, Lukasz; Senices, Mayra; Nguyen, Minh Hai; Kapoor, Parmita S.; Luus, Lia; Sullivan, Andrew; Bortolato, Andrea; Svensson, Mats; Hickey, Eugene R.; Konze, Kyle D.; Day, Tyler; Kim, Byungchan; Negri, Ana; Gerasyuto, Aleksey I.; Moy, Terence I.; Lu, Min; Ray, Adrian S.; Wang, Liangsu; Cui, Dan; Lin, Fu-Yang; Lippa, Blaise; Rogers, Bruce N.
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Cyprocide selectively kills nematodes via cytochrome P450 bioactivation
err2024-07-02
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errOAAI
errKnox, Jessica; Burns, Andrew R.; Cooke, Brittany; Cammalleri, Savina R.; Kitner, Megan; Ching, Justin; Castelli, Jack M. P.; Puumala, Emily; Snider, Jamie; Koury, Emily; Collins, J. B.; Geissah, Salma; Dowling, James J.; Andersen, Erik C.; Stagljar, Igor; Cowen, Leah E.; Lautens, Mark; Zasada, Inga; Roy, Peter J.
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A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods
err2024-07-01
err4
errOAAI
errOh, Rachel Y.; Almail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko E.; Haque, Bushra; Thiruvahindrapuram, Bhooma; Marshall, Christian R.; Mendoza-Londono, Roberto; Shlien, Adam; Kyriakopoulou, Lianna G.; Walker, Susan; Dowling, James J.; Wilson, Michael D.; Costain, Gregory
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AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
err2024-06-28
err3
errOAAI
errDowling, James J.; Pirovolakis, Terry; Devakandan, Keshini; Stosic, Ana; Pidsadny, Mia; Nigro, Elisa; Sahin, Mustafa; Ebrahimi-Fakhari, Darius; Messahel, Souad; Varadarajan, Ganapathy; Greenberg, Benjamin M.; Chen, Xin; Minassian, Berge A.; Cohn, Ronald; Bonnemann, Carsten G.; Gray, Steven J.
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Comprehensive phenotypic characterization of an allelic series of zebrafish models of NEB-related nemaline myopathy
err2024-03-17
err3
errOAAI
errFabian, Lacramioara; Karimi, Esmat; Farman, Gerrie P.; Gohlke, Jochen; Ottenheijm, Coen A. C.; Granzier, Hendrikus L.; Dowling, James J.
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
err2024-02-01
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PREAI
errHartley, Taila; Marshall, Deborah; Acker, Meryl; Fooks, Katharine; Gillespie, Meredith K.; Price, E. Magda; Graham, Ian D.; White-Brown, Alexandre; MacKay, Layla; Macdonald, Stella K.; Brady, Lauren; Hui, Angela Y.; Andrews, Joseph D.; Chowdhury, Ashfia; Wall, Erika; Soubry, Elisabeth; Ediae, Grace U.; Rojas, Samantha; Assamad, Daniel; Dyment, David; Tarnopolsky, Mark; Sawyer, Sarah L.; Chisholm, Caitlin; Lemire, Gabrielle; Amburgey, Kimberly; Lazier, Joanna; Mendoza-Londono, Roberto; Dowling, James J.; Balci, Tugce B.; Armour, Christine M.; Bhola, Priya T.; Costain, Gregory; Dupuis, Lucie; Carter, Melissa; Badalato, Lauren; Richer, Julie; Boswell-Patterson, Christie; Kannu, Peter; Cordeiro, Dawn; Warman-Chardon, Jodi; Graham, Gail; Siu, Victoria Mok; Cytrynbaum, Cheryl; Rusnak, Alison; Aul, Ritu B.; Yoon, Grace; Gonorazky, Hernan; McNiven, Vanda; Mercimek-Andrews, Saadet; Guerin, Andrea; Deshwar, Ashish R.; Marwaha, Ashish; Weksberg, Rosanna; Karp, Natalya; Campbell, Maggie; Al-Qattan, Sarah; Shuen, Andrew Y.; Inbar-Feigenberg, Michal; Cohn, Ronald; Szuto, Anna; Inglese, Cara; Poirier, Myriam; Chad, Lauren; Potter, Beth; Boycott, Kym M.; Hayeems, Robin
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