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Ronald Cohn

TitlePresident & CEO
InstitutionThe Hospital for Sick Children
DepartmentExecutive Office
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    Collapse Bibliographic 
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    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. Zhu AY, Costain G, Cytrynbaum C, Weksberg R, Cohn RD, Ali A. Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins. Ophthalmic Genet. 2021 May 14; 1-7. PMID: 33985410.
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    2. Scott O, Lindsay K, Erwood S, Mollica A, Roifman CM, Cohn RD, Ivakine EA. STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses. NPJ Genom Med. 2021 May 14; 6(1):34. PMID: 33990617.
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    3. Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 Jun 03; 108(6):1053-1068. PMID: 33909990.
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    4. Maino E, Wojtal D, Evagelou SL, Farheen A, Wong TWY, Lindsay K, Scott O, Rizvi SZ, Hyatt E, Rok M, Visuvanathan S, Chiodo A, Schneeweiss M, Ivakine EA, Cohn RD. Targeted genome editing in vivo corrects a Dmd duplication restoring wild-type dystrophin expression. EMBO Mol Med. 2021 May 07; 13(5):e13228. PMID: 33724658.
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    5. Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fecíková A, Havránková P, Roth J, Príhodová I, Adamovicová M, Ulmanová O, Bechyne K, Danhofer P, Veselý B, Han V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Ružicka E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Monogenic variants in dystonia: an exome-wide sequencing study. Lancet Neurol. 2020 11; 19(11):908-918. PMID: 33098801.
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    6. Diaz J, Gérard X, Emerit MB, Areias J, Geny D, Dégardin J, Simonutti M, Guerquin MJ, Collin T, Viollet C, Billard JM, Métin C, Hubert L, Larti F, Kahrizi K, Jobling R, Agolini E, Shaheen R, Zigler A, Rouiller-Fabre V, Rozet JM, Picaud S, Novelli A, Alameer S, Najmabadi H, Cohn R, Munnich A, Barth M, Lugli L, Alkuraya FS, Blaser S, Gashlan M, Besmond C, Darmon M, Masson J. YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations. Brain. 2020 10 01; 143(10):2911-2928. PMID: 33103737.
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    7. Wong TWY, Ahmed A, Yang G, Maino E, Steiman S, Hyatt E, Chan P, Lindsay K, Wong N, Golebiowski D, Schneider J, Delgado-Olguín P, Ivakine EA, Cohn RD. A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy. Dis Model Mech. 2020 09 21; 13(9). PMID: 32988972.
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    8. Costain G, Walker S, Marano M, Veenma D, Snell M, Curtis M, Luca S, Buera J, Arje D, Reuter MS, Thiruvahindrapuram B, Trost B, Sung WWL, Yuen RKC, Chitayat D, Mendoza-Londono R, Stavropoulos DJ, Scherer SW, Marshall CR, Cohn RD, Cohen E, Orkin J, Meyn MS, Hayeems RZ. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. JAMA Netw Open. 2020 09 01; 3(9):e2018109. PMID: 32960281.
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    9. Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. Genet Med. 2020 10; 22(10):1598-1605. PMID: 32461667.
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    10. Boycott KM, Campeau PM, Howley HE, Pavlidis P, Rogic S, Oriel C, Berman JN, Hamilton RM, Hicks GG, Lipshitz HD, Masson JY, Shoubridge EA, Junker A, Leroux MR, McMaster CR, Michaud JL, Turvey SE, Dyment D, Innes AM, van Karnebeek CD, Lehman A, Cohn RD, MacDonald IM, Rachubinski RA, Frosk P, Vandersteen A, Wozniak RW, Pena IA, Wen XY, Lacaze-Masmonteil T, Rankin C, Hieter P. The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms. Am J Hum Genet. 2020 02 06; 106(2):143-152. PMID: 32032513.
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    11. Erwood S, Brewer RA, Bily TMI, Maino E, Zhou L, Cohn RD, Ivakine EA. Modeling Niemann-Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation. Genome Res. 2019 12; 29(12):2010-2019. PMID: 31754021.
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    12. Garcia B, Lee J, Edraki A, Hidalgo-Reyes Y, Erwood S, Mir A, Trost CN, Seroussi U, Stanley SY, Cohn RD, Claycomb JM, Sontheimer EJ, Maxwell KL, Davidson AR. Anti-CRISPR AcrIIA5 Potently Inhibits All Cas9 Homologs Used for Genome Editing. Cell Rep. 2019 11 12; 29(7):1739-1746.e5. PMID: 31722192.
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    13. Kemaladewi DU, Bassi PS, Erwood S, Al-Basha D, Gawlik KI, Lindsay K, Hyatt E, Kember R, Place KM, Marks RM, Durbeej M, Prescott SA, Ivakine EA, Cohn RD. A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene. Nature. 2019 08; 572(7767):125-130. PMID: 31341277.
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    14. Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019 May 02; 104(5):1007. PMID: 31051109.
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    15. Kemaladewi DU, Cohn RD. Development of therapeutic genome engineering in laminin-a2-deficient congenital muscular dystrophy. Emerg Top Life Sci. 2019 Mar 29; 3(1):11-18. PMID: 33523194.
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    16. Borlot F, Whitney R, Cohn RD, Weiss SK. MEF2C-related epilepsy: Delineating the phenotypic spectrum from a novel mutation and literature review. Seizure. 2019 Apr; 67:86-90. PMID: 30922778.
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    17. Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease. Am J Hum Genet. 2019 03 07; 104(3):466-483. PMID: 30827497.
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    18. Cohn RD. Letter to the Editor. Forensic Sci Int. 2019 Mar; 296:144. PMID: 30665690.
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    19. Cordeiro D, Bullivant G, Siriwardena K, Evans A, Kobayashi J, Cohn RD, Mercimek-Andrews S. Genetic landscape of pediatric movement disorders and management implications. Neurol Genet. 2018 Oct; 4(5):e265. PMID: 30283815.
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    20. Cordeiro D, Bullivant G, Cohn RD, Raiman J, Mercimek-Andrews S. Outcome of Patients With Inherited Neurotransmitter Disorders. Can J Neurol Sci. 2018 09; 45(5):571-576. PMID: 30109838.
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    21. Kemaladewi DU, Benjamin JS, Hyatt E, Ivakine EA, Cohn RD. Increased polyamines as protective disease modifiers in congenital muscular dystrophy. Hum Mol Genet. 2018 06 01; 27(11):1905-1912. PMID: 29566247.
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    22. Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. ERCC6L2-associated inherited bone marrow failure syndrome. Mol Genet Genomic Med. 2018 05; 6(3):463-468. PMID: 29633571.
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    23. Cohn I, Cohn RD, Ito S. Professional opportunity for pharmacists to integrate pharmacogenomics in medication therapy. Can Pharm J (Ott). 2018 May-Jun; 151(3):167-169. PMID: 29796128.
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    24. 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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    25. Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants. CMAJ. 2018 02 05; 190(5):E126-E136. PMID: 29431110.
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    26. Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ. Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray. Eur J Hum Genet. 2017 12; 25(12):1303-1312. PMID: 29158552.
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    27. Dowling JJ, D Gonorazky H, Cohn RD, Campbell C. Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet A. 2018 Apr; 176(4):804-841. PMID: 28889642.
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    28. Reijnders MRF, Ansor NM, Kousi M, Yue WW, Tan PL, Clarkson K, Clayton-Smith J, Corning K, Jones JR, Lam WWK, Mancini GMS, Marcelis C, Mohammed S, Pfundt R, Roifman M, Cohn R, Chitayat D, Millard TH, Katsanis N, Brunner HG, Banka S. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes. Am J Hum Genet. 2017 Sep 07; 101(3):466-477. PMID: 28886345.
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    29. 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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    30. Kemaladewi DU, Maino E, Hyatt E, Hou H, Ding M, Place KM, Zhu X, Bassi P, Baghestani Z, Deshwar AG, Merico D, Xiong HY, Frey BJ, Wilson MD, Ivakine EA, Cohn RD. Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. Nat Med. 2017 Aug; 23(8):984-989. PMID: 28714989.
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    31. Zou Y, Donkervoort S, Salo AM, Foley AR, Barnes AM, Hu Y, Makareeva E, Leach ME, Mohassel P, Dastgir J, Deardorff MA, Cohn RD, DiNonno WO, Malfait F, Lek M, Leikin S, Marini JC, Myllyharju J, Bönnemann CG. P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye. Hum Mol Genet. 2017 06 15; 26(12):2207-2217. PMID: 28419360.
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    32. Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. NPJ Genom Med. 2017; 2:19. PMID: 29263831.
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    33. Oei K, Hayeems RZ, Ungar WJ, Cohn RD, Cohen E. Genetic Testing among Children in a Complex Care Program. Children (Basel). 2017 May 22; 4(5). PMID: 28531152.
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    34. Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 Feb 02; 100(2):343-351. PMID: 28132692.
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    35. Al Teneiji A, Bruun TU, Sidky S, Cordeiro D, Cohn RD, Mendoza-Londono R, Moharir M, Raiman J, Siriwardena K, Kyriakopoulou L, Mercimek-Mahmutoglu S. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II. Mol Genet Metab. 2017 03; 120(3):235-242. PMID: 28122681.
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    36. Wong TWY, Cohn RD. Therapeutic Applications of CRISPR/Cas for Duchenne Muscular Dystrophy. Curr Gene Ther. 2017; 17(4):301-308. PMID: 29173172.
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    37. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084. PMID: 27171546.
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    38. Kemaladewi DU, Cohn RD. Exon Snipping in Duchenne Muscular Dystrophy. Trends Mol Med. 2016 Mar; 22(3):187-189. PMID: 26856237.
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    39. Yoon G, Malam Z, Paton T, Marshall CR, Hyatt E, Ivakine Z, Scherer SW, Lee KS, Hawkins C, Cohn RD. Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L. J Pediatr. 2016 Apr; 171:313-6.e1-2. PMID: 26825290.
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    40. 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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    41. Cohn RD, Dubowitz V. Duchenne muscular dystrophy: Ringo to the rescue? Neuromuscul Disord. 2016 Jan; 26(1):5-6. PMID: 26801251.
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    42. Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD. Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders. Am J Hum Genet. 2016 Jan 07; 98(1):90-101. PMID: 26686765.
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    43. Gonorazky H, Liang M, Cummings B, Lek M, Micallef J, Hawkins C, Basran R, Cohn R, Wilson MD, MacArthur D, Marshall CR, Ray PN, Dowling JJ. RNAseq analysis for the diagnosis of muscular dystrophy. Ann Clin Transl Neurol. 2016 01; 3(1):55-60. PMID: 26783550.
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    44. Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A. Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy. . 2016 Jan; 170A(1):77-86. PMID: 26394714.
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    45. Dubowitz V, Cohn RD. Dystrophin and Duchenne dystrophy. Neuromuscul Disord. 2015 May; 25(5):361-2. PMID: 25890834.
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    46. Bowdin SC, Hayeems RZ, Monfared N, Cohn RD, Meyn MS. The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine. Clin Genet. 2016 Jan; 89(1):10-9. PMID: 25813238.
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    47. Marshall CR, Farrell SA, Cushing D, Paton T, Stockley TL, Stavropoulos DJ, Ray PN, Szego M, Lau L, Pereira SL, Cohn RD, Wintle RF, Abuzenadah AM, Abu-Elmagd M, Scherer SW. Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. BMC Genomics. 2015; 16 Suppl 1:S12. PMID: 25923536.
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    48. Malam Z, Cohn RD. Stem cells on alert: priming quiescent stem cells after remote injury. Cell Stem Cell. 2014 Jul 03; 15(1):7-8. PMID: 24996163.
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    49. Bowdin S, Ray PN, Cohn RD, Meyn MS. The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care. Hum Mutat. 2014 May; 35(5):513-9. PMID: 24599881.
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    50. Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, Kerr B, McKee S, Lloyd IC, Shears D, Stewart H, White SM, Savarirayan R, Mancini GM, Beysen D, Cohn RD, Grisart B, Maystadt I, Donnai D. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet. 2015 Mar; 87(3):252-8. PMID: 24527667.
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    51. MacDonald EM, Andres-Mateos E, Mejias R, Simmers JL, Mi R, Park JS, Ying S, Hoke A, Lee SJ, Cohn RD. Denervation atrophy is independent from Akt and mTOR activation and is not rescued by myostatin inhibition. Dis Model Mech. 2014 Apr; 7(4):471-81. PMID: 24504412.
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    52. Ivakine EA, Cohn RD. Maintaining skeletal muscle mass: lessons learned from hibernation. Exp Physiol. 2014 Apr; 99(4):632-7. PMID: 24443348.
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    53. Xu R, Andres-Mateos E, Mejias R, MacDonald EM, Leinwand LA, Merriman DK, Fink RH, Cohn RD. Hibernating squirrel muscle activates the endurance exercise pathway despite prolonged immobilization. Exp Neurol. 2013 Sep; 247:392-401. PMID: 23333568.
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    54. Cohn RD. Stem cells in severe infantile spinal muscular atrophy (SMA1). Neuromuscul Disord. 2012 Dec; 22(12):1106-7. PMID: 23206851.
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    55. Andres-Mateos E, Brinkmeier H, Burks TN, Mejias R, Files DC, Steinberger M, Soleimani A, Marx R, Simmers JL, Lin B, Finanger Hedderick E, Marr TG, Lin BM, Hourdé C, Leinwand LA, Kuhl D, Föller M, Vogelsang S, Hernandez-Diaz I, Vaughan DK, Alvarez de la Rosa D, Lang F, Cohn RD. Activation of serum/glucocorticoid-induced kinase 1 (SGK1) is important to maintain skeletal muscle homeostasis and prevent atrophy. EMBO Mol Med. 2013 01; 5(1):80-91. PMID: 23161797.
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    56. Andres-Mateos E, Mejias R, Soleimani A, Lin BM, Burks TN, Marx R, Lin B, Zellars RC, Zhang Y, Huso DL, Marr TG, Leinwand LA, Merriman DK, Cohn RD. Impaired skeletal muscle regeneration in the absence of fibrosis during hibernation in 13-lined ground squirrels. PLoS One. 2012; 7(11):e48884. PMID: 23155423.
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    57. MacDonald EM, Cohn RD. TGFß signaling: its role in fibrosis formation and myopathies. Curr Opin Rheumatol. 2012 Nov; 24(6):628-34. PMID: 22918531.
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    58. Files DC, D'Alessio FR, Johnston LF, Kesari P, Aggarwal NR, Garibaldi BT, Mock JR, Simmers JL, DeGorordo A, Murdoch J, Willis MS, Patterson C, Tankersley CG, Messi ML, Liu C, Delbono O, Furlow JD, Bodine SC, Cohn RD, King LS, Crow MT. A critical role for muscle ring finger-1 in acute lung injury-associated skeletal muscle wasting. Am J Respir Crit Care Med. 2012 Apr 15; 185(8):825-34. PMID: 22312013.
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    59. Burks TN, Cohn RD. One size may not fit all: anti-aging therapies and sarcopenia. Aging (Albany NY). 2011 Dec; 3(12):1142-53. PMID: 22184279.
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    60. Burks TN, Andres-Mateos E, Marx R, Mejias R, Van Erp C, Simmers JL, Walston JD, Ward CW, Cohn RD. Losartan restores skeletal muscle remodeling and protects against disuse atrophy in sarcopenia. Sci Transl Med. 2011 May 11; 3(82):82ra37. PMID: 21562229.
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    61. Finanger Hedderick EL, Simmers JL, Soleimani A, Andres-Mateos E, Marx R, Files DC, King L, Crawford TO, Corse AM, Cohn RD. Loss of sarcolemmal nNOS is common in acquired and inherited neuromuscular disorders. Neurology. 2011 Mar 15; 76(11):960-7. PMID: 21403107.
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    62. Cohn RD. Muscle cramps and coffee. Neuromuscul Disord. 2011 Apr; 21(4):311. PMID: 21377365.
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    63. Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, Florence JM, Schara U, Schuler PM, Wahbi K, Aloysius A, Bash RO, Béroud C, Bertini E, Bushby K, Cohn RD, Connolly AM, Deconinck N, Desguerre I, Eagle M, Estournet-Mathiaud B, Ferreiro A, Fujak A, Goemans N, Iannaccone ST, Jouinot P, Main M, Melacini P, Mueller-Felber W, Muntoni F, Nelson LL, Rahbek J, Quijano-Roy S, Sewry C, Storhaug K, Simonds A, Tseng B, Vajsar J, Vianello A, Zeller R. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010 Dec; 25(12):1559-81. PMID: 21078917.
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    64. Lee SJ, Lee YS, Zimmers TA, Soleimani A, Matzuk MM, Tsuchida K, Cohn RD, Barton ER. Regulation of muscle mass by follistatin and activins. Mol Endocrinol. 2010 Oct; 24(10):1998-2008. PMID: 20810712.
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    65. Cohn RD. Best practice in Duchenne dystrophy. Neuromuscul Disord. 2010 Apr; 20(4):292. PMID: 20371092.
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    66. Fontana S, Cohn RD. SP-litting the satellite niche to repopulate muscle. Cell Stem Cell. 2009 Mar 06; 4(3):194-5. PMID: 19265654.
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    67. Cohn RD, Liang HY, Shetty R, Abraham T, Wagner KR. Myostatin does not regulate cardiac hypertrophy or fibrosis. Neuromuscul Disord. 2007 Apr; 17(4):290-6. PMID: 17336525.
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    68. Cohn RD, van Erp C, Habashi JP, Soleimani AA, Klein EC, Lisi MT, Gamradt M, ap Rhys CM, Holm TM, Loeys BL, Ramirez F, Judge DP, Ward CW, Dietz HC. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med. 2007 Feb; 13(2):204-10. PMID: 17237794.
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    69. Lisi MT, Cohn RD. Congenital muscular dystrophies: new aspects of an expanding group of disorders. Biochim Biophys Acta. 2007 Feb; 1772(2):159-72. PMID: 17097859.
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    70. Cohn RD, Eklund E, Bergner AL, Casella JF, Woods SL, Althaus J, Blakemore KJ, Fox HE, Hoover-Fong JE, Hamosh A, Braverman NE, Freeze HH, Boyadjiev SA. Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation. Pediatrics. 2006 Aug; 118(2):e514-21. PMID: 16816004.
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    71. Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. Neuromuscul Disord. 2005 Mar; 15(3):207-17. PMID: 15725582.
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    72. Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP. LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med. 2004 Jul; 10(7):696-703. PMID: 15184894.
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    73. Saito F, Moore SA, Barresi R, Henry MD, Messing A, Ross-Barta SE, Cohn RD, Williamson RA, Sluka KA, Sherman DL, Brophy PJ, Schmelzer JD, Low PA, Wrabetz L, Feltri ML, Campbell KP. Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel stabilization. Neuron. 2003 Jun 05; 38(5):747-58. PMID: 12797959.
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    74. Cohn RD, Henry MD, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Skwarchuk MW, Robbins ME, Mendell JR, Williamson RA, Campbell KP. Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell. 2002 Sep 06; 110(5):639-48. PMID: 12230980.
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    75. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature. 2002 Jul 25; 418(6896):417-22. PMID: 12140558.
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    76. Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, Campbell KP. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature. 2002 Jul 25; 418(6896):422-5. PMID: 12140559.
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    77. Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromuscul Disord. 2001 Jan; 11(1):11-9. PMID: 11166161.
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    78. Cohn RD, Durbeej M, Moore SA, Coral-Vazquez R, Prouty S, Campbell KP. Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex. J Clin Invest. 2001 Jan; 107(2):R1-7. PMID: 11160141.
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    79. Franz WM, Müller M, Müller OJ, Herrmann R, Rothmann T, Cremer M, Cohn RD, Voit T, Katus HA. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet. 2000 May 20; 355(9217):1781-5. PMID: 10832829.
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    80. Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study. Ann Neurol. 2000 Feb; 47(2):152-61. PMID: 10665485.
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    81. Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, Campbell KP. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell. 2000 Jan; 5(1):141-51. PMID: 10678176.
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    82. Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, Straub V, Barresi R, Bansal D, Hrstka RF, Williamson R, Campbell KP. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999 Aug 20; 98(4):465-74. PMID: 10481911.
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    83. Voit T, Cohn RD, Sperner J, Leube B, Sorokin L, Toda T, Herrmann R. Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. Neuromuscul Disord. 1999 Mar; 9(2):95-101. PMID: 10220864.
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    84. Cohn RD, Mayer U, Saher G, Herrmann R, van der Flier A, Sonnenberg A, Sorokin L, Voit T. Secondary reduction of alpha7B integrin in laminin alpha2 deficient congenital muscular dystrophy supports an additional transmembrane link in skeletal muscle. J Neurol Sci. 1999 Mar 01; 163(2):140-52. PMID: 10371075.
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    85. Shahangian S, Cohn RD, Gaunt EE, Krolak JM. System to monitor a portion of the total testing process in medical clinics and laboratories: evaluation of a split-specimen design. Clin Chem. 1999 Feb; 45(2):269-80. PMID: 9931051.
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    86. von Moers A, van Landeghem FK, Cohn RD, Baumgarten E, Bürger J, Stoltenburg-Didinger G. Dystrophinopathy in a boy with Chediak-Higashi syndrome. Neuromuscul Disord. 1998 Oct; 8(7):489-94. PMID: 9829279.
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    87. Cohn RD, Herrmann R, Sorokin L, Wewer UM, Voit T. Laminin alpha2 chain-deficient congenital muscular dystrophy: variable epitope expression in severe and mild cases. Neurology. 1998 Jul; 51(1):94-100. PMID: 9674785.
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    88. Shahangian S, Krolak JM, Gaunt EE, Cohn RD. A system to monitor a portion of the total testing process in medical clinics and laboratories: feasibility of a split-specimen design. Arch Pathol Lab Med. 1998 Jun; 122(6):503-11. PMID: 9625417.
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    89. Cohn RD, Herrmann R, Wewer UM, Voit T. Changes of laminin beta 2 chain expression in congenital muscular dystrophy. Neuromuscul Disord. 1997 Sep; 7(6-7):373-8. PMID: 9327401.
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    90. Cohn RD, Gillessen-Kaesbach G, Dobyns WB, Kahn T, Lenard HG, Voit T. Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalism. Am J Med Genet. 1996 May 03; 63(1):314-7. PMID: 8723127.
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    91. Miller ME, Cohn RD, Burghart PH. Hydrochlorothiazide disposition in a mother and her breast-fed infant. J Pediatr. 1982 Nov; 101(5):789-91. PMID: 7131161.
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