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Publications

Recent Publications

The list below displays 20 of our most recent publications.

  1. McMillan, HJ, Marshall, AE, Venkateswaran, S, Hartley, T, Warman-Chardon, J, Ramani, AK, Marshall, CR, Michaud, J, Boycott, KM, Dyment, DA, Kernohan, KD. Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy. Clin Genet. 2021; :. doi: 10.1111/cge.13935.
  2. Amburgey, K, Acker, M, Saeed, S, Amin, R, Beggs, AH, Bönnemann, CG, Brudno, M, Constantinescu, A, Dastgir, J, Diallo, M, Genetti, CA, Glueck, M, Hewson, S, Hum, C, Jain, MS, Lawlor, MW, Meyer, OH, Nelson, L, Sultanum, N, Syed, F, Tran, T, Wang, CH, Dowling, JJ. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021; :. doi: 10.1212/WNL.0000000000011458.
  3. Duan, L, Celik, A, Hoang, JA, Schmidthaler, K, So, D, Yin, X, Ditlof, CM, Ponce, M, Upton, JEM, Lee, JS, Hung, L, Breiteneder, H, Palladino, C, Atkinson, AR, Kim, VHD, Berenjy, A, Asper, M, Hummel, D, Wong, S, Alexanian-Farr, M, Magder, A, Chinthrajah, SR, Mukai, K, Tsai, M, Nadeau, K, Galli, SJ, Ramani, AK, Szepfalusi, Z, Eiwegger, T. Basophil activation test shows high accuracy in the diagnosis of peanut and tree nut allergy: The Markers of Nut Allergy Study. Allergy. 2020; :. doi: 10.1111/all.14695.
  4. Turinsky, AL, Dupont, S, Botzki, A, Razick, S, Turner, B, Donaldson, IM, Wodak, SJ. Navigating the Global Protein-Protein Interaction Landscape Using iRefWeb. Methods Mol Biol. 2021;2199 :191-207. doi: 10.1007/978-1-0716-0892-0_12.
  5. 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.
  6. 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. Modeling the conversion between specific IgE test platforms for nut allergens in children and adolescents. Allergy. 2020; :. doi: 10.1111/all.14529.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
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