logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
Back
R

Ronald D. Cohn

University of Toronto

41H-index
189Paper Count
8.3KCitation Count
Published Papers 58
Publication Date
logo
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes
errNature Communications
IF15.7
err2025-11-27
err0
errOAAI
errAntonio Mollica; Safia Omer; Georgiana Forguson; Sydney Steiman; Sonia L. Evagelou; Serhiy Naumenko; Susan Walker; Lu Yi Li; Aideen Teeling; Kyle Lindsay; Steven Erwood; Shagana Visuvanathan; Anjali Vig; Robert M. Vernon; Benjamin Akman; Constance Smith-Hicks; Julie D. Forman-Kay; Manohar Shroff; Vivek Pai; Rene E. Harrison; Ronald D. Cohn; Evgueni A. Ivakine
errShare
errSave
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
errNature Genetics
IF29
err2025-10-22
err0
errOAAI
errReza Asadollahi; Aisha Ahmad; Paranchai Boonsawat; Jasmine Shahanoor Hinzen; Mareike Lohse; Boris Bouazza-Arostegui; Siqi Sun; Tillmann Utesch; Jonas D. Sommer; Dragana Ilic; Murugesh Padmanarayana; Kati Fischermanns; Mrinalini Ranjan; Moritz Boll; Chandran Ka; Amélie Piton; Francesca Mattioli; Bertrand Isidor; Katrin Õunap; Karit Reinson; Monica H. Wojcik; Christian R. Marshall; Saadet Mercimek-Andrews; Naomichi Matsumoto; Noriko Miyake; Bruno de Oliveira Stephan; Rachel Sayuri Honjo; Debora R. Bertola; Chong Ae Kim; Roman Yusupov; Heather C. Mefford; John Christodoulou; Joy Lee; Oliver Heath; Natasha J. Brown; Naomi Baker; Zornitza Stark; Martin Delatycki; Nicole J. Lake; Shimriet Zeidler; Linda Zuurbier; Saskia M. Maas; Chris C. de Kruiff; Farrah Rajabi; Lance H. Rodan; Stephanie A. Coury; Konrad Platzer; Henry Oppermann; Rami Abou Jamra; Skadi Beblo; Caroline Maxton; Robert Śmigiel; Hunter Underhill; Holly Dubbs; Alyssa Rosen; Katherine L. Helbig; Ingo Helbig; Sarah McKeown Ruggiero; Mark P. Fitzgerald; Dennis Kraemer; Carlos E. Prada; Jeffrey Tenney; Parul Jayakar; Sylvia Redon; Jérémie Lefranc; Kevin Uguen; Simone Race; Stephanie Efthymiou; Reza Maroofian; Henry Houlden; Sandra Coppens; Nicolas Deconinck; Balasubramaniem Ashokkumar; Perumal Varalakshmi; Vykunta Raju Gowda K; Fatemeh Eghbal; Ehsan Ghayoor Karimiani; Morteza Heidari; John Neidhardt; Marta Owczarek-Lipska; G. Christoph Korenke; Michael J. Bamshad; Philippe M. Campeau; Anna Lehman; Laura G. Hendon; Ingrid M. Wentzensen; Kristin G. Monaghan; Yanmin Chen; Anna Szuto; Ronald D. Cohn; Ping Yee Billie Au; Christoph Hübner; Felix Boschann; Kandamurugu Manickam; Daniel C. Koboldt; Aboulfazl Rad; Gabriela Oprea; Kristine K. Bachman; Andrea H. Seeley; Emanuele Agolini; Alessandra Terracciano; Piscopo Carmelo; Caleb Bupp; Bethany Grysko; Annick Rein-Rothschild; Bruria Ben Zeev; Amy Margolin; Jennifer Morrison; Aditi Dagli; Elliot Stolerman; Raymond J. Louie; Camerun Washington; Servi J. C. Stevens; Malou Heijligers; Fowzan S. Alkuraya; Jasmin Lisfeld; Axel Neu; Fabíola Paoli Monteiro; André Luiz Santos Pessoa; Antonio Edvan Camelo-Filho; Fernando Kok; Dwight Koeberl; Kacie Riley; Lydie Burglen; Diane Doummar; Bénédicte Héron; Cyril Mignot; Boris Keren; Perrine Charles; Caroline Nava; Felix P. Bernhard; Andrea A. Kühn; Sven Thoms; Ryan D. Morrie; Shila Mekhoubad; Eric M. Green; Sami J. Barmada; Aaron D. Gitler; Olaf Jahn; Jeong Seop Rhee; Christian Rosenmund; Mišo Mitkovski; Heinrich Sticht; Han Sun; Gerald Le Gac; Holger Taschenberger; Nils Brose; Jeremy S. Dittman; Anita Rauch; Noa Lipstein
errShare
errSave
Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55
errDISEASE MODELS & MECHANISMS
IF3.3
err2025-10-01
err2
PREAI
errPerillat, Lucie O. M.; Wong, Tatianna W. Y.; Maino, Eleonora; Ahmed, Abdalla; Scott, Ori; Hyatt, Elzbieta; Delgado-Olguin, Paul; Visuvanathan, Shagana; Ivakine, Evgueni A.; Cohn, Ronald D.
errShare
errSave
Co-assembly of oligo-urethane nanoparticles with defined lipid additives to tailor RNA delivery into cells
errActa Biomaterialia
IF9.6
err2025-06-14
err0
PREAI
errSuja Shrestha; Elaine Yan; Beining Yang; Aled Blundell; Allen C.T. Teng; Ryan M. Marks; Ronald Cohn; Evgueni Ivakine; Anthony O. Gramolini; J.Paul Santerre
errShare
errSave
Template-assisted sequence knockin rescues skeletal and cardiac muscle function in a deletion model of Duchenne muscular dystrophy
errMolecular Therapy
IF12
err2025-05-07
err0
PREAI
errSina Fatehi; Matthew J. Rok; Ryan M. Marks; Emily Huynh; Natalie Kozman; Hong Anh Truong; Lijun Chi; Bei Yan; Enzhe Khazeeva; Paul Delgado-Olguin; Evgueni A. Ivakine; Ronald D. Cohn
errShare
errSave
A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy (vol 13, dmm045369, 2020)
errDISEASE MODELS & MECHANISMS
IF3.3
err2025-04-04
err0
errOAAI
errWai, Tatianna; Wong, Ying; Ahmed, Abdalla; Yang, Grace; Maino, Eleonora; Steiman, Sydney; Hyatt, Elzbieta; Chan, Parry; Lindsay, Kyle; Wong, Nicole; Golebiowski, Diane; Schneider, Joel; Delgado-Olguin, Paul; Ivakine, Evgueni A.; Cohn, Ronald D.
errShare
errSave
An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome
errDISEASE MODELS & MECHANISMS
IF3.3
err2024-07-23
err1
errOAAI
errMaino, Eleonora; Scott, Ori; Rizvi, Samar Z.; Chan, Wing Suen; Visuvanathan, Shagana; Ben Zablah, Youssif; Li, Hongbin; Sengar, Ameet S.; Salter, Michael W.; Jia, Zhengping; Rossant, Janet; Cohn, Ronald D.; Gu, Bin; Ivakine, Evgueni A.
errShare
errSave
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient
errNATURE MEDICINE
IF50
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.
errShare
errSave
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-05-03
err2
errOAAI
errLu, Xiaona; Ng, Kim; Vairo, Filippo; Collins, James; Cohn, Ronald; Riley, Kacie; Agre, Katherine; Gavrilova, Ralitza; Klee, Eric W.; Rosenfeld, Jill A.; Jiang, Yong-hui
errShare
errSave
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
errGENETICS IN MEDICINE
IF6.2
err2024-02-01
err0
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
errShare
errSave
An optimized toolkit for prime editing
errNATURE BIOTECHNOLOGY
IF41.7
err2024-01-29
err0
PREAI
errMarks, Ryan M.; Scott, Ori; Ivakine, Evgueni A.; Cohn, Ronald D.
errShare
errSave
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2023-05-19
err5
errOAAI
errScott, Ori; Visuvanathan, Shagana; Reddy, Emily; Mahamed, Deeqa; Gu, Bin; Roifman, Chaim M. M.; Cohn, Ronald D. D.; Guidos, Cynthia J. J.; Ivakine, Evgueni A. A.
errShare
errSave
Pharmacogenetic profiling via genome sequencing in children with medical complexity
errPEDIATRIC RESEARCH
IF3.1
err2022-09-27
err5
errOAAI
errPan, Amy; Scodellaro, Sierra; Khan, Tayyaba; Ushcatz, Inna; Wu, Wendy; Curtis, Meredith; Cohen, Eyal; Cohn, Ronald D.; Hayeems, Robin Z.; Meyn, M. Stephen; Orkin, Julia; Otal, Jaskiran; Reuter, Miriam S.; Walker, Susan; Scherer, Stephen W.; Marshall, Christian R.; Cohn, Iris; Costain, Gregory
errShare
errSave
Pharmacogenetic profiling via genome sequencing in children with medical complexity
errGENETICS IN MEDICINE
IF6.2
err2022-03-01
err0
errOAAI
errPan, Amy; Scodellaro, Sierra; Khan, Tayyaba; Ushcatz, Inna; Wu, Wendy; Curtis, Meredith; Cohen, Eyal; Cohn, Ronald; Hayeems, Robin; Meyn, M. Stephen; Orkin, Julia; Otal, Jaskiran; Reuter, Miriam; Walker, Susan; Scherer, Stephen; Marshall, Christian; Cohn, Iris; Costain, Gregory
errShare
errSave
Saturation variant interpretation using CRISPR prime editing
errNATURE BIOTECHNOLOGY
IF41.7
err2022-02-21
err94
errOAAI
errErwood, Steven; Bily, Teija M., I; Lequyer, Jason; Yan, Joyce; Gulati, Nitya; Brewer, Reid A.; Zhou, Liangchi; Pelletier, Laurence; Ivakine, Evgueni A.; Cohn, Ronald D.
errShare
errSave
Genome sequencing as a diagnostic test
errCANADIAN MEDICAL ASSOCIATION JOURNAL
IF11.3
err2022-02-06
err0
errOAAI
errCostain, Gregory; Cohn, Ronald D.; Scherer, Stephen W.; Marshall, Christian R.
errShare
errSave
Self-Assembled Oligo-Urethane Nanoparticles: Their Characterization and Use for the Delivery of Active Biomolecules into Mammalian Cells
errACS APPLIED MATERIALS & INTERFACES
IF8.2
err2021-12-07
err6
PREAI
errShrestha, Suja; McFadden, Meghan J.; Teng, Allen C. T.; Chang, Patrick Dong Min; Deng, Joyce; Wong, Tatianna W. Y.; Cohn, Ronald D.; Ivakine, Evgueni A.; Gramolini, Anthony O.; Santerre, J. Paul
errShare
errSave
Genome sequencing as a diagnostic test
errCANADIAN MEDICAL ASSOCIATION JOURNAL
IF11.3
err2021-10-24
err27
errOAAI
errCostain, Gregory; Cohn, Ronald D.; Scherer, Stephen W.; Marshall, Christian R.
errShare
errSave
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2021-06-01
err45
errOAAI
errRots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna
errShare
errSave
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
errBRAIN
IF11.7
err2021-04-01
err9
errOAAI
errHathazi, Denisa; Cox, Dan; D'Amico, Adele; Tasca, Giorgio; Charlton, Richard; Carlier, Robert-Yves; Baumann, Jennifer; Kollipara, Laxmikanth; Zahedi, Rene P.; Feldmann, Ingo; Deleuze, Jean-Francois; Torella, Annalaura; Cohn, Ronald; Robinson, Emily; Ricci, Francesco; Jungbluth, Heinz; Fattori, Fabiana; Boland, Anne; O'Connor, Emily; Horvath, Rita; Barresi, Rita; Lochmueller, Hanns; Urtizberea, Andoni; Jacquemont, Marie-Line; Nelson, Isabelle; Swan, Laura; Bonne, Gisele; Roos, Andreas
errShare
errSave

Research Directions

No research directions
Co-authors
Cooperation Journals
P
Paul Flicek
H-index: 167 · Papers: 522
S
Stephen W. Scherer
H-index: 161 · Papers: 1.1K
J
Janet Rossant
H-index: 149 · Papers: 1.1K
K
Kevin P. Campbell
H-index: 143 · Papers: 596
M
Mark J. Caulfield
H-index: 130 · Papers: 592
View more