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Recent Publications

The list below displays 20 of our most recent publications.

  1. Goodman, SJ, Burton, CL, Butcher, DT, Siu, MT, Lemire, M, Chater-Diehl, E, Turinsky, AL, Brudno, M, Soreni, N, Rosenberg, D, Fitzgerald, KD, Hanna, GL, Anagnostou, E, Arnold, PD, Crosbie, J, Schachar, R, Weksberg, R. Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation. J Neurodev Disord. 2020;12 (1):23. doi: 10.1186/s11689-020-09324-3.
  2. Hoang, JA, Celik, A, Lupinek, C, Valenta, R, Duan, L, Dai, R, Brydges, MG, Dubeau, A, Lépine, C, Wong, S, Alexanian-Farr, M, Magder, A, Subbarao, P, Upton, JEM, Schmidthaler, K, Szépfalusi, Z, Ramani, A, Eiwegger, T. Modelling the conversion between specific IgE test platforms for nut allergens in children and adolescents. Allergy. 2020; :. doi: 10.1111/all.14529.
  3. Rickard, M, Keefe, DT, Drysdale, E, Erdman, L, Hannick, JH, Milford, K, Santos, JD, Mistry, N, Koyle, MA, Lorenzo, AJ. Trends and relevance in the bladder and bowel dysfunction literature: PlumX metrics contrasted with fragility indicators. J Pediatr Urol. 2020;16 (4):477.e1-477.e7. doi: 10.1016/j.jpurol.2020.06.015.
  4. Turinsky, AL, Choufani, S, Lu, K, Liu, D, Mashouri, P, Min, D, Weksberg, R, Brudno, M. EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases. Hum Mutat. 2020; :. doi: 10.1002/humu.24076.
  5. Chang, WH, Mashouri, P, Lozano, AX, Johnstone, B, Husić, M, Olry, A, Maiella, S, Balci, TB, Sawyer, SL, Robinson, PN, Rath, A, Brudno, M. Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes. Genet Med. 2020;22 (8):1427. doi: 10.1038/s41436-020-0866-6.
  6. Mohanraj, S, Díaz-Mejía, JJ, Pham, MD, Elrick, H, Husić, M, Rashid, S, Luo, P, Bal, P, Lu, K, Patel, S, Mahalanabis, A, Naidas, A, Christensen, E, Croucher, D, Richards, LM, Shooshtari, P, Brudno, M, Ramani, AK, Pugh, TJ. CReSCENT: CanceR Single Cell ExpressioN Toolkit. Nucleic Acids Res. 2020;48 (W1):W372-W379. doi: 10.1093/nar/gkaa437.
  7. Ruggieri, A, Naumenko, S, Smith, MA, Iannibelli, E, Blasevich, F, Bragato, C, Gibertini, S, Barton, K, Vorgerd, M, Marcus, K, Wang, P, Maggi, L, Mantegazza, R, Dowling, JJ, Kley, RA, Mora, M, Minassian, BA. Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease. Acta Neuropathol. 2020;140 (2):231-235. doi: 10.1007/s00401-020-02164-4.
  8. Chang, WH, Mashouri, P, Lozano, AX, Johnstone, B, Husić, M, Olry, A, Maiella, S, Balci, TB, Sawyer, SL, Robinson, PN, Rath, A, Brudno, M. Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes. Genet Med. 2020;22 (8):1391-1400. doi: 10.1038/s41436-020-0812-7.
  9. Cahill, LS, Cameron, JM, Winterburn, J, Macos, P, Hoggarth, J, Dzamba, M, Brudno, M, Nutter, LMJ, Sproule, TJ, Burgess, RW, Henkelman, RM, Sled, JG. Structural Variant in Mitochondrial-Associated Gene (MRPL3) Induces Adult-Onset Neurodegeneration with Memory Impairment in the Mouse. J Neurosci. 2020;40 (23):4576-4585. doi: 10.1523/JNEUROSCI.0013-20.2020.
  10. Crowley, E, Warner, N, Pan, J, Khalouei, S, Elkadri, A, Fiedler, K, Foong, J, Turinsky, AL, Bronte-Tinkew, D, Zhang, S, Hu, J, Tian, D, Li, D, Horowitz, J, Siddiqui, I, Upton, J, Roifman, CM, Church, PC, Wall, DA, Ramani, AK, Kotlarz, D, Klein, C, Uhlig, H, Snapper, SB, Gonzaga-Jauregui, C, Paterson, AD, McGovern, DPB, Brudno, M, Walters, TD, Griffiths, AM, Muise, AM. Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center. Gastroenterology. 2020;158 (8):2208-2220. doi: 10.1053/j.gastro.2020.02.023.
  11. Sengar, AS, Li, H, Zhang, W, Leung, C, Ramani, AK, Saw, NM, Wang, Y, Tu, Y, Ross, PJ, Scherer, SW, Ellis, J, Brudno, M, Jia, Z, Salter, MW. Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1. Cell Rep. 2019;29 (13):4285-4294.e5. doi: 10.1016/j.celrep.2019.11.087.
  12. Pienkowska, M, Choufani, S, Turinsky, AL, Guha, T, Merino, DM, Novokmet, A, Brudno, M, Weksberg, R, Shlien, A, Hawkins, C, Bouffet, E, Tabori, U, Gilbertson, RJ, Finlay, JL, Jabado, N, Thomas, C, Sill, M, Capper, D, Hasselblatt, M, Malkin, D. Correction to: DNA methylation signature is prognostic of choroid plexus tumor aggressiveness. Clin Epigenetics. 2019;11 (1):144. doi: 10.1186/s13148-019-0737-7.
  13. Guerreiro Stucklin, AS, Ryall, S, Fukuoka, K, Zapotocky, M, Lassaletta, A, Li, C, Bridge, T, Kim, B, Arnoldo, A, Kowalski, PE, Zhong, Y, Johnson, M, Li, C, Ramani, AK, Siddaway, R, Nobre, LF, de Antonellis, P, Dunham, C, Cheng, S, Boué, DR, Finlay, JL, Coven, SL, de Prada, I, Perez-Somarriba, M, Faria, CC, Grotzer, MA, Rushing, E, Sumerauer, D, Zamecnik, J, Krskova, L, Garcia Ariza, M, Cruz, O, Morales La Madrid, A, Solano, P, Terashima, K, Nakano, Y, Ichimura, K, Nagane, M, Sakamoto, H, Gil-da-Costa, MJ, Silva, R, Johnston, DL, Michaud, J, Wilson, B, van Landeghem, FKH, Oviedo, A, McNeely, PD, Crooks, B, Fried, I, Zhukova, N, Hansford, JR, Nageswararao, A, Garzia, L, Shago, M, Brudno, M, Irwin, MS, Bartels, U, Ramaswamy, V, Bouffet, E, Taylor, MD, Tabori, U, Hawkins, C. Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas. Nat Commun. 2019;10 (1):4343. doi: 10.1038/s41467-019-12187-5.
  14. Pienkowska, M, Choufani, S, Turinsky, AL, Guha, T, Merino, DM, Novokmet, A, Brudno, M, Weksberg, R, Shlien, A, Hawkins, C, Bouffet, E, Tabori, U, Gilbertson, RJ, Finlay, JL, Jabado, N, Thomas, C, Sill, M, Capper, D, Hasselblatt, M, Malkin, D. DNA methylation signature is prognostic of choroid plexus tumor aggressiveness. Clin Epigenetics. 2019;11 (1):117. doi: 10.1186/s13148-019-0708-z.
  15. Siu, MT, Butcher, DT, Turinsky, AL, Cytrynbaum, C, Stavropoulos, DJ, Walker, S, Caluseriu, O, Carter, M, Lou, Y, Nicolson, R, Georgiades, S, Szatmari, P, Anagnostou, E, Scherer, SW, Choufani, S, Brudno, M, Weksberg, R. Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants. Clin Epigenetics. 2019;11 (1):103. doi: 10.1186/s13148-019-0684-3.
  16. Chater-Diehl, E, Ejaz, R, Cytrynbaum, C, Siu, MT, Turinsky, A, Choufani, S, Goodman, SJ, Abdul-Rahman, O, Bedford, M, Dorrani, N, Engleman, K, Flores-Daboub, J, Genevieve, D, Mendoza-Londono, R, Meschino, W, Perrin, L, Safina, N, Townshend, S, Scherer, SW, Anagnostou, E, Piton, A, Deardorff, M, Brudno, M, Chitayat, D, Weksberg, R. New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC Med Genomics. 2019;12 (1):105. doi: 10.1186/s12920-019-0555-y.
  17. Hoang, JA, Mashouri, P, Dai, R, Brydges, MG, Dubeau, A, Lépine, C, Yin, X, Kowalik, K, DeLorenzo, S, Upton, JEM, Moraes, TJ, Amin, R, Narang, I, Boutis, K, Schuh, S, Maksym, GN, Brudno, M, Ramani, A, Subbarao, P, Eiwegger, T. Extract and component-specific sensitization patterns in Canadian moderate-to-severe preschool asthmatics. Allergy. 2019;74 (12):2519-2521. doi: 10.1111/all.13927.
  18. Arbabi, A, Adams, DR, Fidler, S, Brudno, M. Identifying Clinical Terms in Medical Text Using Ontology-Guided Machine Learning. JMIR Med Inform. 2019;7 (2):e12596. doi: 10.2196/12596.
  19. 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;104 (3):466-483. doi: 10.1016/j.ajhg.2019.01.012.
  20. Köhler, S, Carmody, L, Vasilevsky, N, Jacobsen, JOB, Danis, D, Gourdine, JP, Gargano, M, Harris, NL, Matentzoglu, N, McMurry, JA, Osumi-Sutherland, D, Cipriani, V, Balhoff, JP, Conlin, T, Blau, H, Baynam, G, Palmer, R, Gratian, D, Dawkins, H, Segal, M, Jansen, AC, Muaz, A, Chang, WH, Bergerson, J, Laulederkind, SJF, Yüksel, Z, Beltran, S, Freeman, AF, Sergouniotis, PI, Durkin, D, Storm, AL, Hanauer, M, Brudno, M, Bello, SM, Sincan, M, Rageth, K, Wheeler, MT, Oegema, R, Lourghi, H, Della Rocca, MG, Thompson, R, Castellanos, F, Priest, J, Cunningham-Rundles, C, Hegde, A, Lovering, RC, Hajek, C, Olry, A, Notarangelo, L, Similuk, M, Zhang, XA, Gómez-Andrés, D, Lochmüller, H, Dollfus, H, Rosenzweig, S, Marwaha, S, Rath, A, Sullivan, K, Smith, C, Milner, JD, Leroux, D, Boerkoel, CF, Klion, A, Carter, MC, Groza, T, Smedley, D, Haendel, MA, Mungall, C, Robinson, PN. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. Nucleic Acids Res. 2019;47 (D1):D1018-D1027. doi: 10.1093/nar/gky1105.
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