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Page 1
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Priestley JRC, et al. Among authors: dowling jj. Genet Med. 2023 Aug;25(8):100863. doi: 10.1016/j.gim.2023.100863. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37125634 Free article.
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR, Yuki KE, Hou H, Liang Y, Khan T, Celik A, Ramani A, Mendoza-Londono R, Marshall CR, Brudno M, Shlien A, Meyn MS, Hayeems RZ, McKinlay BJ, Klentrou P, Wilson MD, Kyriakopoulou L, Costain G, Dowling JJ. Deshwar AR, et al. Among authors: dowling jj. Am J Hum Genet. 2023 May 4;110(5):895-900. doi: 10.1016/j.ajhg.2023.03.006. Epub 2023 Mar 28. Am J Hum Genet. 2023. PMID: 36990084 Free PMC article.
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Morton SU, Costain G, French CE, Wakeling E, Szuto A, Christodoulou J, Cohn R, Darras BT, Wojcik MH, D'Gama AM, Dowling JJ, Lunke S, Muntoni F, Raymond L, Rowitch D, Beggs AH, Stark Z, Agrawal PB. Morton SU, et al. Among authors: dowling jj. Neurology. 2025 Jan 14;104(1):e210106. doi: 10.1212/WNL.0000000000210106. Epub 2024 Dec 19. Neurology. 2025. PMID: 39700446
Equitable Access to Disease-Modifying Therapies for Canadian Children with SMA and Four SMN2 Copies.
McMillan HJ, Gonorazky H, Campbell C, Chrestian N, Crone M, Dowling JJ, Joyal K, Kolski H, Leung E, Mackenzie A, Mah JK, McAdam L, Nigro E, Nguyen CT, Oskoui M, Poulin C, Sheriko J, Tarnopolsky M, Vajsar J, Yaworski A, Selby K. McMillan HJ, et al. Among authors: dowling jj. Can J Neurol Sci. 2024 Nov 13:1-3. doi: 10.1017/cjn.2024.319. Online ahead of print. Can J Neurol Sci. 2024. PMID: 39534980 No abstract available.
Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis.
Ghasempour S, Warner N, Guan R, Rodari MM, Ivanochko D, Whittaker Hawkins R, Marwaha A, Nowak JK, Liang Y, Mulder DJ, Stallard L, Li M, Yu DD, Pluthero FG, Batura V, Zhao M, Siddiqui I, Upton JEM, Hulst JM, Kahr WHA, Mendoza-Londono R, Charbit-Henrion F, Hoefsloot LH, Khiat A, Moreira D, Trindade E, Espinheira MDC, Pinto Pais I, Weerts MJA, Douben H, Kotlarz D, Snapper SB, Klein C, Dowling JJ, Julien JP, Joosten M, Cerf-Bensussan N, Freeman SA, Parlato M, van Ham TJ, Muise AM. Ghasempour S, et al. Among authors: dowling jj. J Exp Med. 2024 Dec 2;221(12):e20240546. doi: 10.1084/jem.20240546. Epub 2024 Nov 11. J Exp Med. 2024. PMID: 39526957 Free PMC article.
A pro-oxidant suppresses unrelated diseases.
Pannia E, Dowling JJ. Pannia E, et al. Among authors: dowling jj. Science. 2024 Oct 25;386(6720):380-381. doi: 10.1126/science.adt2538. Epub 2024 Oct 24. Science. 2024. PMID: 39446962
Cyprocide selectively kills nematodes via cytochrome P450 bioactivation.
Knox J, Burns AR, Cooke B, Cammalleri SR, Kitner M, Ching J, Castelli JMP, Puumala E, Snider J, Koury E, Collins JB, Geissah S, Dowling JJ, Andersen EC, Stagljar I, Cowen LE, Lautens M, Zasada I, Roy PJ. Knox J, et al. Among authors: dowling jj. Nat Commun. 2024 Jul 2;15(1):5529. doi: 10.1038/s41467-024-49738-4. Nat Commun. 2024. PMID: 38956039 Free PMC article.
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.
Dowling JJ, Pirovolakis T, Devakandan K, Stosic A, Pidsadny M, Nigro E, Sahin M, Ebrahimi-Fakhari D, Messahel S, Varadarajan G, Greenberg BM, Chen X, Minassian BA, Cohn R, Bonnemann CG, Gray SJ. Dowling JJ, et al. Nat Med. 2024 Jul;30(7):1882-1887. doi: 10.1038/s41591-024-03078-4. Epub 2024 Jun 28. Nat Med. 2024. PMID: 38942994 Free PMC article. Clinical Trial.
199 results