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Publications

Recent Publications

The list below displays 20 of our most recent publications.

  1. Lee, ES, Smith, HW, Wang, YE, Ihn, SS, Scalize de Oliveira, L, Kejiou, NS, Liang, YL, Nabeel-Shah, S, Jomphe, RY, Pu, S, Greenblatt, JF, Palazzo, AF. N-6-methyladenosine (m6A) promotes the nuclear retention of mRNAs with intact 5' splice site motifs. Life Sci Alliance. 2025;8 (2):. doi: 10.26508/lsa.202403142.
  2. Richter, J, Shinar, S, Erdman, L, Good, H, Kim, JK, Dos Santos, J, Khondker, A, Chua, M, Van Mieghem, T, Lorenzo, AJ, Rickard, M. Use of prenatal ultrasound findings to predict postnatal outcome in fetuses with lower urinary tract obstruction. Ultrasound Obstet Gynecol. 2024;64 (6):768-775. doi: 10.1002/uog.29129.
  3. Del Gobbo, GF, Wang, X, MacDonald, SK, Liang, Y, Care4Rare Canada Consortium, McMillan, HJ, Lemire, G, Boycott, KM. A Novel De Novo Splice Acceptor Variant in BICD2 Is Associated With Spinal Muscular Atrophy. Am J Med Genet A. 2024; :e63944. doi: 10.1002/ajmg.a.63944.
  4. 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. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis. J Exp Med. 2024;221 (12):. doi: 10.1084/jem.20240546.
  5. Delgado-Vega, AM, Cederroth, H, Taylan, F, Ekholm, K, Ek, M, Thonberg, H, Jemt, A, Nilsson, D, Eisfeldt, J, Bilgrav Saether, K, Höijer, I, Akgun-Dogan, O, Asano, Y, Barakat, TS, Batkovskyte, D, Baynam, G, Bodamer, O, Chetruengchai, W, Corcoran, P, Couse, M, Danis, D, Demidov, G, Dohi, E, Erhardsson, M, Fernandez-Luna, L, Fujiwara, T, Garg, N, Giugliani, R, Gonzaga-Jauregui, C, Grigelioniene, G, Groza, T, Gunnarsson, C, Hammarsjö, A, Hammond, CK, Hatirnaz Ng, Ö, Hesketh, S, Hettiarachchi, D, Johansson Soller, M, Kirmani, UA, Kjellberg, M, Kvarnung, M, Kvlividze, O, Lagerstedt-Robinson, K, Lasko, P, Lassmann, T, Lau, LYS, Laurie, S, Lim, WK, Liu, Z, Lysenkova Wiklander, M, Makay, P, Maiga, AB, Maya-González, C, Meyn, MS, Neethiraj, R, Nigro, V, Nordgren, F, Nordlund, J, Orrsjö, S, Ottosson, J, Ozbek, U, Özdemir, Ö, Partin, C, Pearce, DA, Peck, R, Pedersen, A, Pettersson, M, Pongpanich, M, Posada de la Paz, M, Ramani, A, Romero, JA, Romero, VI, Rosenquist, R, Saw, AM, Spencer, M, Stattin, EL, Srichomthong, C, Tapia-Paez, I, Taruscio, D, Taylor, JP, Tkemaladze, T, Tully, I, Tümer, Z, van Zelst-Stams, WAG, Verloes, A, Västerviga, E, Wang, S, Yang, R, Yamamoto, S, Yépez, VA, Zhang, Q, Shotelersuk, V, Wiafe, SA, Alanay, Y, Botto, LD, Kirmani, S, Lumaka, A, Palmer, EE, Puri, RD et al.. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon. Nat Genet. 2024;56 (11):2287-2294. doi: 10.1038/s41588-024-01941-1.
  6. Erdman, L, Rickard, M, Drysdale, E, Skreta, M, Hua, SB, Sheth, K, Alvarez, D, Velaer, KN, Chua, ME, Dos Santos, J, Keefe, D, Rosenblum, ND, Bonnett, MA, Weaver, J, Xiang, A, Fan, Y, Viteri, B, Cooper, CS, Tasian, GE, Lorenzo, AJ, Goldenberg, A. Author Correction: The Hydronephrosis Severity Index guides paediatric antenatal hydronephrosis management based on artificial intelligence applied to ultrasound images alone. Sci Rep. 2024;14 (1):24475. doi: 10.1038/s41598-024-76145-y.
  7. Khondker, A, Kwong, JCC, Rickard, M, Erdman, L, Gabrielson, AT, Nguyen, DD, Kim, JK, Abbas, T, Fernandez, N, Fischer, K, 't Hoen, LA, Keefe, DT, Nelson, CP, Viteri, B, Wang, HS, Weaver, J, Yadav, P, Lorenzo, AJ. AI-PEDURO - Artificial intelligence in pediatric urology: Protocol for a living scoping review and online repository. J Pediatr Urol. 2024; :. doi: 10.1016/j.jpurol.2024.10.003.
  8. Lesurf, R, Breckpot, J, Bouwmeester, J, Hanafi, N, Jain, A, Liang, Y, Papaz, T, Lougheed, J, Mondal, T, Alsalehi, M, Altamirano-Diaz, L, Oechslin, E, Audain, E, Dombrowsky, G, Postma, AV, Woudstra, OI, Bouma, BJ, Hitz, MP, Bezzina, CR, Blue, GM, Winlaw, DS, Mital, S. A validated heart-specific model for splice-disrupting variants in childhood heart disease. Genome Med. 2024;16 (1):119. doi: 10.1186/s13073-024-01383-8.
  9. Erdman, L, Rickard, M, Drysdale, E, Skreta, M, Hua, SB, Sheth, K, Alvarez, D, Velaer, KN, Chua, ME, Dos Santos, J, Keefe, D, Rosenblum, ND, Bonnett, MA, Weaver, J, Xiang, A, Fan, Y, Viteri, B, Cooper, CS, Tasian, GE, Lorenzo, AJ, Goldenberg, A. The Hydronephrosis Severity Index guides paediatric antenatal hydronephrosis management based on artificial intelligence applied to ultrasound images alone. Sci Rep. 2024;14 (1):22748. doi: 10.1038/s41598-024-72271-9.
  10. Bachmeier-Zbären, N, Celik, A, van Brummelen, R, Roos, N, Steinmann, M, Hoang, JA, Yin, X, Ditlof, CM, Duan, L, Upton, JEM, Kaufmann, T, Eggel, A, Eiwegger, T, MONAS working group. Clinical utility analysis of the Hoxb8 mast cell activation test for the diagnosis of peanut allergy. Allergy. 2024; :. doi: 10.1111/all.16341.
  11. Christensen, R, Chau, V, Synnes, A, Guo, T, Ufkes, S, Grunau, RE, Miller, SP. Preterm Sex Differences in Neurodevelopment and Brain Development from Early Life to 8 Years of Age. J Pediatr. 2024;276 :114271. doi: 10.1016/j.jpeds.2024.114271.
  12. Konrad, J, Guo, T, Ufkes, S, Selvanathan, T, Sheng, M, Al-Ajmi, E, Branson, HM, Chau, V, Ly, LG, Kelly, EN, Grunau, RE, Miller, SP. Socioeconomic status moderates associations between hippocampal development and cognition in preterms. Ann Clin Transl Neurol. 2024;11 (9):2499-2513. doi: 10.1002/acn3.52168.
  13. Das, S, Erdman, L, Brals, D, Boczek, B, Hasan, SMT, Massara, P, Alam, MA, Fahim, SM, Mahfuz, M, Hoogendoorn, M, Zuiderent-Jerak, T, Bandsma, RHJ, Ahmed, T, Voskuijl, W. Development of machine learning models predicting mortality using routinely collected observational health data from 0-59 months old children admitted to an intensive care unit in Bangladesh: critical role of biochemistry and haematology data. BMJ Paediatr Open. 2024;8 (1):. doi: 10.1136/bmjpo-2023-002365.
  14. Quach, H, Farrell, S, Wu, MJM, Kanagarajah, K, Leung, JW, Xu, X, Kallurkar, P, Turinsky, AL, Bear, CE, Ratjen, F, Kalish, B, Goyal, S, Moraes, TJ, Wong, AP. Early human fetal lung atlas reveals the temporal dynamics of epithelial cell plasticity. Nat Commun. 2024;15 (1):5898. doi: 10.1038/s41467-024-50281-5.
  15. Pellerin, D, Del Gobbo, GF, Couse, M, Dolzhenko, E, Nageshwaran, SK, Cheung, WA, Xu, IRL, Dicaire, MJ, Spurdens, G, Matos-Rodrigues, G, Stevanovski, I, Scriba, CK, Rebelo, A, Roth, V, Wandzel, M, Bonnet, C, Ashton, C, Agarwal, A, Peter, C, Hasson, D, Tsankova, NM, Dewar, K, Lamont, PJ, Laing, NG, Renaud, M, Houlden, H, Synofzik, M, Usdin, K, Nussenzweig, A, Napierala, M, Chen, Z, Jiang, H, Deveson, IW, Ravenscroft, G, Akbarian, S, Eberle, MA, Boycott, KM, Pastinen, T, All of Us Research Program Long Read Working Group, Brais, B, Zuchner, S, Danzi, MC. A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nat Genet. 2024;56 (7):1366-1370. doi: 10.1038/s41588-024-01808-5.
  16. Ufkes, S, Kennedy, E, Poppe, T, Miller, SP, Thompson, B, Guo, J, Harding, JE, Crowther, CA. Prenatal Magnesium Sulfate and Functional Connectivity in Offspring at Term-Equivalent Age. JAMA Netw Open. 2024;7 (5):e2413508. doi: 10.1001/jamanetworkopen.2024.13508.
  17. Kennedy, AM, Griffiths, AM, Muise, AM, Walters, TD, Ricciuto, A, Huynh, HQ, Wine, E, Jacobson, K, Lawrence, S, Carman, N, Mack, DR, deBruyn, JC, Otley, AR, Deslandres, C, El-Matary, W, Zachos, M, Benchimol, EI, Critch, J, Schneider, R, Crowley, E, Li, M, Warner, N, McGovern, DPB, Li, D, Haritunians, T, Rudin, S, Cohn, I. Landscape of TPMT and NUDT15 Pharmacogenetic Variation in a Cohort of Canadian Pediatric Inflammatory Bowel Disease Patients. Inflamm Bowel Dis. 2024; :. doi: 10.1093/ibd/izae109.
  18. Selvanathan, T, Guo, T, Ufkes, S, Chau, V, Branson, HM, Synnes, AR, Ly, LG, Kelly, E, Grunau, RE, Miller, SP. Change in Volumes and Location of Preterm White Matter Injury over a Period of 15 Years. J Pediatr. 2024;272 :114090. doi: 10.1016/j.jpeds.2024.114090.
  19. Kasera, B, Shinar, S, Edke, P, Pruthi, V, Goldenberg, A, Erdman, L, Van Mieghem, T. Deep-learning computer vision can identify increased nuchal translucency in the first trimester of pregnancy. Prenat Diagn. 2024;44 (5):535-543. doi: 10.1002/pd.6559.
  20. Selvanathan, T, Guo, T, Ufkes, S, Chau, V, Branson, H, Synnes, A, Ly, LG, Kelly, EN, Grunau, RE, Miller, SP. Size and Location of Preterm Brain Injury and Associations With Neurodevelopmental Outcomes. Neurology. 2024;102 (8):e209264. doi: 10.1212/WNL.0000000000209264.
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