Roshandel, D, Sanders, EJ, Shakeshaft, A, Panjwani, N, Lin, F, Collingwood, A, Hall, A, Keenan, K, Deneubourg, C, Mirabella, F, Topp, S, Zarubova, J, Thomas, RH, Talvik, I, Syvertsen, M, Striano, P, Smith, AB, Selmer, KK, Rubboli, G, Orsini, A, Ng, CC, Møller, RS, Lim, KS, Hamandi, K, Greenberg, DA, Gesche, J, Gardella, E, Yi Fong, C, Beier, CP, Andrade, DM, Jungbluth, H, Richardson, MP, Pastore, A, Fanto, M, Pal, DK, Strug, LJ, the BIOJUME Consortium. SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy. Npj Genomic Medicine. 8(28). 28 September 2023.
The COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 621(7977):E7-E26. 6 September 2023.
Morgan, G, Casalino, S, Chowdhary, S, Frangione, Erika, Fung, CYJ, Haller, S, Lapadula, E, Scott, M, Wolday, D, Young, J, Arnoldo, S, Aujla, N, Bearss, E, Binnie, A, Bombard, Y, Borgundvaag, B, Briollais, L, Dagher, M, Devine, L, Faghffoury, H, Friedman, SM, Gingras, AC, Goneau, LW, Khan, Z, Mazzulli, T, McLeod, SL, Nomigolzar, R, Noor, A, Pugh, TJ, Richardson, D, Singh, HKS, Simpson, J, Stern, S, Strug, L, Taher, A, Lerner-Ellis, J, Taher, J. Characterizing Risk Factors for Hospitalization and Clinical Characteristics in a Cohort of COVID-19 Patients Enrolled in the GENCOV Study. Viruses. 15(8): 1764. 18 August 2023. CA.
Rubboli, G, Beier, CP, Slemer, KK, Syvertsen, M, Shakeshaft, A, Collingwood, A, Hall, A, Andrade, DM, Fong, CY, Gesche, J, Greenberg, DA, Hamandi, K, Lim, KS, Ng, CC, Orsini, A, BIOJUME Consortium, Striano, P, Thomas, RH, Zarubova, J, Richardson, MP, Strugl LJ, and Pal, DK. Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a BIOJUME Consortium proposal for a practical definition and stratified medicine classifications. Brain Communications. 5(3): fcad182. 9 June 2023.
Zarrei, M, Burton, CL, Engchuan, W, Higginbotham, EJ, Wei, J, Shaikh, S, Roslin, NM, MacDonald, JR, Pellecchia, G, Nalpathamkalam, T, Lamoureux, S, Manshaei, R, Howe, J, Trost, B, Thiruvahindrapuram, B, Marshall, CR, Yuen, RKC, Wintle, RF, Strug, LJ, Stavropoulos, DJ, Vorstman, JAS, Arnold, P, Merico, D, Woodbury-Smith, M, Crosbie, J, Schachar, R, Scherer, SW. Gene copy number variation and pediatric mental health/neurodevelopment in a general population. Human Molecular Genetics. 32(15): 2411-2421. 20 July 2023. CA.
Zhang, L, Strug, LJ, Sun, L. Leveraging Hardy-Weinberg disequilibrium for association testing in case-control studies. Annals of Applied Statistics. 17(2): 1764-1781. June 2023.
Yoo, S, Garg, E, Elliott, LT, Hung, RJ, Halevy, AR, Brooks, JD, Bull, SB, Gagnon, F, Greenwood, CMT, Lawless, JF, Paterson, AD, Sun, L, Zawati, MH, Lerner-Ellis, J, Abraham, RJS, Birol, I, Bourque, G, Garant, J-M, Gosselin, C, Li, J, Whitney, J, Thiruvahindrapuram, B, Herbrick, J-A, Lorenti, M, Reuter, MS, Liu, S, Allen, U, Bernier, FP, Biggs, CM, Cheung, AM, Cowan, J, Herridge, M, Maslove, DM, Modi, BP, Mooser, V, Morris, SK, Ostrowski, M, Parekh, RS, Pfeffer, G, Suchowersky, O, Taher, J, Turvey, SE, Upton, J, Warren, RL, Yeung, RSM, Aziz, N, Knoppers, BM, Lathrop, M, Jones, SJM, Scherer, SW, Strug, LJ. HostSeq : A Canadian Whole Genome Sequencing and Clinical Data Resource. BMC Genomic Data. 24(26). 2 May 2023.
Sahakyan, Y, Abrahamyan, L, Ratjen, F, Bear, C, Strug, L, Eckford, PDW, Peel, JK, Krahn, M, and Sander, B. Cost-effectiveness analysis of genetic tools to predict treatment response in patients with cystic fibrosis. Journal of Cystic Fibrosis. S1569-1993(23)00119-4. 24 April 2023. Advance online publication.
Birimberg-Schwartz, L, Ip, W, Bartlett, C, Avolio, J, Vonk, AM, Gunawardena, T, Du, K, Esmaeili, M, Beekman, JM, Rommens, J, Strug, LJ, Bear, CE, Moraes, TJ, and Gonska, T. Validating organoid-derived human intestinal monolayers for personalized therapy in cystic fibrosis. Life Science Alliance. 6(6). 4 April 2023.
Zhong, L and Strug, LJ. RoPE: a robust profile likelihood method for differential gene expression analysis. Genetic Epidemiology. 2023:1-15. Advance online publication.
Zhou, YH, Gallins, PJ, Pace, RG, Dang, H, Aksit, MA, Blue, EE, Buckingham, KJ, Collaco, JM, Faino, AV, Gordon, WW,Hetrick, KN, Ling, H, Liu, W, Onchiri, FM, Pagel, K, Pugh, EW, Raraigh, KS, Rosenfeld, M, Sun, Q, Wen, J, Li, Y, Corvol, H, Strug, LJ, Bamshad, MJ, Blackman, SM, Cutting, GR, Gibson, RL, O’Neal, WK, Wright, FA, Knowles, MR. Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole Genome Analysis of 7,840 Patients. American Journal of Respiratory and Critical Care Medicine. 207(10):1324-1333. 27 Feb 2023.
Abbondanza F, Dale PS, Wang CA, et al. Language and reading impairments are associated with increased prevalence of non-right-handedness. Child Dev. 00:1-16. 13 Feb 2023
Price KM, Wigg KG, Nigam A, Feng, Y, Blokland, K, Wilkinson, M, Kerr, EN, Guger, SL, Lovett, MW, Strug, LJ, Tripathy, SJ, Barr, CL. Identification of brain cell types underlying genetic association with word reading and correlated traits. Mol Psychiatry. 28: 1719–1730. 7 Feb 2023.
Mastromatteo, S, Chen, A, Gong, J, Lin, F, Thiruvahindrapuram, B, Sung, WWL, Whitney, J, Wang, Z, Patel, RV, Keenan, K, Halevy, A, Panjwani, N, Avolio, J, Wang, C, Côté-Maurais, G, Begin, S, Adam, D, Brochiero, E, Bjornson, C, Chilvers, M, Price, A, Parkins, M, van Wylick, R, Mateos-Corral, D, Hughes, D, Smith, MJ, Morrison, N, Tullis, E, Stephenson, AL, Wilcox, P, Quon, BS, Leung, WM, Solomon, M, Sun, L, Ratjen, F, Strug, LJ. High Quality Read-based Phasing of Cystic Fibrosis Cohort Informs Genetic Understanding of Disease Modification. Human Genetics and Genomics Advances. 4(1):100156. 12 January 2023.
Trost, B, et al. Genomic architecture of autism from comprehensive whole-genome sequence annotation. Cell. 185(23):4409-4427.e18. 10 November 2022.
Casalino, S, Frangione, E, Chung, M, et. al. Genome screening, reporting, and genetic counseling for healthy populations. Human Genetics. 4 November 2022.
Price, KM, Wigg, KG, Eising, E, Feng, Y, Blokland, K, Wilkinson, M, Kerr, EN, Guger, SL, Quantitative Trait Working Group of the Genlang Consortium, Fisher, SE, Lovett, MW, Strug, LJ, and Barr, CL. Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities. Translational Psychiatry. 12:495. 3 November 2022.
Frangione, E, Chung, M, Casalino, S, MacDonald, G, Chowdhary, S, Mighton, C, Faghfoury, H, Bombard, Y, STrug, L, Pugh, T, Simpson, J, Hao, L, Lebo, M, Lane, WJ, Taher, J, Lerner-Ellis, J, GENCOV Study Workgroup. Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study. Current Protocols. 2:10 (e534). 7 October 2022.
Eising, E, Mirza-Schreiber, N, de Zeeuw, EL, Wang, CA, et al. Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people. PNAS. 119(35):e2202764119. 23 August 2022.
Gong, J, He, G, Wang, C, Bartlett, C, Panjwani, N, Mastromatteo, S, Lin, F, Keenan, K, Avolio, J, Halevy, A, Shaw, M, Esmaeili, M, Côté-Maurais, G, Adam, D, Begin, S, Bjornson, C, Chilvers, M, Reisman, J, Price, A, Parkins, M, Van Wylick, R, Berthiaume, Y, Bilodeau, L, Mateos-Corral, D, Hughes, D, Smith, MJ, Morrison, N, Brusky, J, Tullis, E, Stephenson, AL, Quon, BS, Wilcox, P, Leung, WM, Solomon, M, Sun, L, Brochiero, E, Moraes, TJ, Gonska, T, Ratjen, F, Rommens, JM, Strug, LJ. Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease. Npj Genomic Medicine. 7(28). 8 April 2022.
Shakeshaft, A, Panjwani, N, Crudgington, H, McDowall, R, Andrade, D, Beier, C, Fong, CY, Gardella, E, Gesche, J, Greenberg, DA, Hamandi, K, Koht, J, Lim, KS, Moeller, RS, Ng, CC, Orsini, A, Pratico, A, Rees, MI, Rubboli, G, Selmer, KK, Smith, A, Striano, P, Syvertsen, M, Thomas, RH, Zarubova, J, Richardson, M, Strug, LJ, Pal, DK. Sex-specific disease modifiers in juvenile kyoclonic epilepsy. Scientific Reports. 12(1):2785. 21 February 2022.
He, G, Panjwani, N, Avolio, J, Ouyang, H, Keshavjee, S, Rommens, JM, Gonska, T, Moraes, TJ, Strug, LJ. Expression of cystic fibrosis lung disease modifier genes in human airway models. Journal of Cystic Fibrosis. 15:18. 18 February 2022.
Sun, Q, Liu, W, Rosen, JD, Huang, L, Pace, RG, Dang, H, Gallins, PJ, Blue, EE, Ling, H, Corvol, H, Strug, LJ, Bamshad, MJ, Gibson, RL, Pugh, EW, Blackman, SM, Cutting, GR, O’Neal, WK, Zhou, YH, Wright, FA, Knowles, MR, Wen, J, and Li, Y. Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patients. Human Genetics and Genomics Advances. 3(2): 1-11. 14 April 2022.
Wang, F, Panjwani, N, Wang, C, Sun, L, Strug, LJ. A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus. The American Journal of Human Genetics. 109(2):253-269. 3 February 2022.
Taher, J, Mighton, C, Chowdhary, S, Casalino, S, Frangione, E, Arnoldo, S, Bearss, E, Binnie, A, Bombard, Y, Borgundvaag, B, Chertkow, H, Clausen, M, Devine, L, Faghfoury, H, Friedman, SM, Gingras, AC, Khan, Z, Mazzulli, T, McGeer, Al, McLeod, SL, Pugh, TJ, Richardson, D, Simpson, J, Stern, S, Strug, LJ, Taher, A, and Lerner-Ellis, J. Implementation of serological and molecular tools to inform COVID-19 patient management: protocol for the GENCOV prospective cohort study. BMJ Open. 11:e052842. 30 September 2021.
Povysil, G, Butler-Laporte, G, Shang, N, Wang, C, Khan, A, Alaamery, M, Nakanishi, T, Zhou, S, Forgetta, V, Eveleigh, RJM, Bourgey, M, Aziz, N, Jones, SJM, Knoppers, B, Scherer, SW, Strug, LJ, Lepage, P, Ragoussis, J, Bourque, G, Alghamdi, J, Aljawini, N, Albes, N, Al-Afghani, HM, Alghamdi, B, Almutairi, MS, Mahmoud, ES, Abu-Safieh, L, Bardisy, HE, Al Harthi, FS, Alshareef, A, Suliman, BA, Algahtani, SA, Almalik, A, Alrashed, MM, Massedeh, S, Mooser, V, Lathrop, M, Fawzy, M, Arabi, YM, Mbarek, H, Saad, C, Al-muftah, W, Jung J, Mangul, S, Badji, R, Al Thani, A, Ismail, SI, Gharavi, AG, Abedalthagafi, MS, Richards, JB, Goldstein, DB, and Kiryluk, K. Rare loss-of-function variants in type | IFN immunity genes are not associated with severe COVID-19. The Journal of Clinical Investigation. 131(13): e147834. 15 July 2021. Published.
Chen, B, Craiu, RV, Strug, LJ, and Sun, L. The X factor: a robust and powerful approach to X-chromosome-inclusive whole-genome association studies. Genetic Epidemiology. 1-16. 28 May 2021.
Rauscher, R, Bampi, GB, Guevara-Ferrer, M, Santos, LA, Joshi, D, Mark, D, Strug, LJ, Rommens, JM, Ballmann, M, Sorscher, EJ, Oliver, KE, and Ignatova, Z. Positive epistasis between disease-causing missense mutations and silent polymorphism with effect on mRNA translation velocity. PNAS. 118(4):e2010612118. 26 January 2021. Published.
Lin, YC, Cutting, G, Sun, L, Blackman, S, Corvol, H, Strug, LJ et al. Cystic Fibrosis Related Diabetes Onset Can Be Predicted Using Biomarkers Measured at Birth. Genetics in Medicine. 26 January 2021. Published.
Burton, CL, Lemire, M, Xiao, B, Corfield, EC, Erdman, L, Braiten, J, Poilmans, G, Yu, D, Shaheen, S-M, Goodale, T, Soreni, N, Hanna, GL, Fitzgerald, KD, Rosenberg, D, Nestadt, G, Paterson, AD, Strug, LJ, Schachar, RJ, Crosbie, J, Arnold, PD. Genome-wide Association Study of Pediatric Obsessive-Compulsive Traits: Shared Genetic Risk between Traits and Disorder. Translational Psychiatry. 11(91). 2 February 2021. Published.
Lin, YC, Brooks, JD, Bull, SB, Gagnon, F, Greenwood, CMT, Hung, RJ, Lawless, J, Paterson, A, Sun, L, and Strug, LJ. On Statistical Power for Case-Control Host Genomic Studies of COVID-19. Genome Medicine. 12(115). 28 December 2020. Published.
Corbett, RD, Eveleigh, R, Whitney, J, Barai, N, Bourgey, M, Chuah, E, Johnson, J, Moore, RA, Moradin, N, Mungall, KL, Pereira, S, Reuter, MS, Thiruvahindrapuram, B, Wintle, RF, Ragoussis, J, Strug, LJ, Herbrick, J, Aziz, N, Jonees, SJM, Lathrop, M, Scherer, SW, Staffa, A, Mungall, AJ. A Distributed Whole Genome Sequencing Benchmark Study. Frontiers in Genetics. 11:612515. 1 December 2020. Published.
Shakeshaft, A, Panjwani, N, McDowall, R, Crudgington, H, Pena Ceballos, J, Andrade, DM, Beier, CP, Fong, CY, Gesche, J, Greenberg, DA, Hamandi, K, Koht, J, Lim, KS, Orsini, A, Rees, MI, Rubboli, G, Selmer KK, Smith, AB, Striano, P, Syvertsen, M, Talvik, I, Thomas, RH, Zarubova, J, Richardson, MP. Co-Corresponding: Strug, LJ, Pal, DK. And BIOJUME Consortium. Trait Impulsivity in Juvenile Myoclonic Epilepsy. Annals of Clinical and Translational Neurology. 8(1): 138-152. 2 December 2020. Published.
Panjwani, N, Wang, F, Mastromatteo, S, Bao, A, Wang, C, He, G, Gong, J, Rommens, JM, Sun, L, Strug, LJ. LocusFocus: Web-based colocalization for the annotation and functional follow-up of GWAS. PLOS Computational Biology. 16(10):e1008336. 22 October 2020.
Laselva, O, Moraes, TJ, He, G, Bartlett, C, Szarics, I, Ouyang, H, Gunawardena, TN, Strug, LJ, Bear, CE, and Gonska, T. The CFTR mutation c.3453G>C (D1152H) confers an anion selectivity defect in primary airway tissue that can be rescued by ivacaftor. Journal of Personalized Medicine. 10(2): 40. 2020 May 13. Published
Price, KM, Wigg, KG, Feng, Y, Blokland, K, Wilkinson, M, He, G, Kerr, EN, Carter, TC, Guger, SL, Lovett, MW, Strug, LJ, Barr, CL. Genome-Wide Association Study of Word Reading: Overlap with Risk Genes for Neurodevelopmental Disorders. Genes, Brain and Behavior. 19(6): 1601-1848. 2020 Feb 27:e12648. Published.
Lore, NI, Sipione, B, He, G, Strug, LJ, Mott, R, Iraqi, FA, Bragonzi, A. Collaborative Cross mice yield genetic modifiers for Pseudomonas aeruginosa infection in human lung disease. mBio. 11(2):300097-20. 2020 Mar 3. Published
Turvey, S, Saferali, A, Tang, AC, Strug, LJ, Quon, BS, Zlosnik, J, Sandford, AJ. Immunomodulatory function of the cystic fibrosis modifier gene. PLOS ONE. 15(1). 13 Jan 2020. Published.
Aksit, MA, Pace, RG, Vecchio-Pagan, B, Ling, H, Rommens, JM, Boelle, PY, Guillot, L, Raraigh, KS, Pugh, E, Zhang, P, Strug, LJ, Drumm, ML, Knowles, MR, Cutting CR, Corvol, H, Blackman, SM. Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits. J Clin Endocrinol Metab. 105(5). 2020 May. pii: dgz102. Published.
Baskurt, Z, Mastromatteo, S, Gong, J, Wintle, R, Scherer, S, Strug, LJ. VikNGS: A C++ variant integration kit for next generation sequencing association analysis. Bioinformatics. 36(4):1283-1285. 15 Feb 2020. Published.
Trost B, Walker, S, Haider, SA, Sung, WWL, Pereira, S, Phillips, CL, Higginbotham, EJ, Strug, LJ, Nguyen, C, Raajkuman, A, Szego, MJ, Marshall, CR, Scherer, SW. Impact of DNA source on genetic variant detection from human whole-genome sequencing data. J. Med Genet. 0:1-8. 2019. Published.
Gong J, Wang F, Xiao B, Panjwani N, Lin F, Keenan K, Avolio J, Esmaeili M, Zhang L, He G, Soave D, Mastromatteo S, Baskurt Z, Kim S, O’Neal WK, Polineni D, Blackman SM, Corvol H, Cutting GR, Drumm M, Knowles MR, Rommens JM, Sun L, Strug, LJ. Genetic association and transcriptome integration identifies contributing genes and tissues at cystic fibrosis modifier loci. PLOS Genetics. 15(2): e1008007. February 26, 2019. Published.
Corvol, H, Mésinèle, J, Douksieh, IH, Strug, LJ, Boëlle, PY, Guillot, L. SLC26A9 gene is associated with lung function response to Ivacaftor in patients with Cystic Fibrosis. Front Pharmacol. 9:828. 2018. Published.
Strug, LJ, Stephenson, AL, Panjwani, N, Harris, A. Recent advances in developing therapeutics for cystic fibrosis. Human Molecular Genetics. 27(R2): R173 – R186. 2018. Published.
Strug, LJ. The evidential statistical paradigm in genetics. Genetic Epidemiology. 42 (7) 590-607. Published.
Baskurt, Z. and Strug, LJ. Genetic association analysis with pedigrees: direct inference using the composite likelihood ratio. Genetic Epidemiology. 42(8) 826-837. 2018. Published.
Hagemeijer, MC, Siegwart, DJ, Strug, LJ, Cebotaru, L, Torres, MJ, Sofoluwe, A, Beekman, JM. Translational research to enable personalized treatment of cystic fibrosis. Journal of Cystic Fibrosis. 17:S46-51. 2018.
Syme, C, Pelletier, S, Shin, J, Abrahamowicz, M, Leonard, G, Perron, M, Richer, L, Veillette, S, Gaudet, D, Pike, GB, Strug, LJ, Wang, Y, Xu, H, Taylor, G, Bennett, S, Paus, T, Pausova Z. Visceral fat-related systemic inflammation and the adolescent brain: a mediating role of circulating glycerophosphocholines. International Journal of Obesity. 43:1223-1230. 11 Sept 2018. Published.
Soave, D, and Strug, LJ. Testing calibration of cox survival models at extremes of event risk. Front Genet. 9:177. 22 May 2018. Published
Darrah, RJ, Jacono, FJ, Joshi, N, Mitchell, AL, Sattar, A, Campanaro, CK, Litman, P, Frey, J, Nethery, DE, Barbato, ES, Hodges, CA, Corvol, H, Cutting, GR, Knowles, MR, Strug, LJ, Drumm, ML. AGTR2 absence or antagonism prevents cystic fibrosis pulmonary manifestations. Journal of Cystic Fibrosis. 18(1): 127-134. 2018. Published.
Eckford PDW, McCormack J, Munsie L, He G, Stanojevic S, Pereira SL, Ho K, Avolio J, Bartlett C, Yang JY, Wong AP, Wellhauser L, Huan LJ, Jiang JX, Ouyang H, Du K, Klingel M, Kyriakopoulou L, Gonska T, Moraes TJ, Strug LJ, Rossant J, Ratjen F, and Bear CE. The CF Canada-SickKids Program in individual CF therapy: A resource for the advancement of personalized medicine in CF. J Cyst Fibros. 18(1) 35-43. 2018. Published.
Panjwani, N, Xiao, B, Xu, L, Gong, J, Keenan, K, Lin, F, He, G, Baskurt, Z, Sangook, K, Zhang, L, Esmaeili, M, Blackman, S, Cutting, G, Rommens, JM, Sun, L, Strug, LJ. Improving imputation in disease-relevant regions: Lessons from cystic fibrosis. Npj Genomic Medicine. (3)1: 1-5. 2018. Published.
Kim, S, Corey, M, Stephenson, AL, Strug, LJ. Reference Percentiles of FEV1 for the Canadian Cystic Fibrosis Population: Comparisons Across Time and Countries. Thorax. 73(5):446-450. 2018. Published.
Reuter, M, Walker, S, Thiruvahindrapuram, T, Whitney, J, Cohn, I, Sondheimer, N, Yuen, R , Trost, B, Paton, T, Pereira, S, Herbrick, J, Wintle, R, Merico, D, Howe, J, MacDonald, J, Lu, C, Nalpathamkalam, T, Sung W, Wang, Z, Patel, R, Pellecchia, G, Wei, J, Strug, LJ, Bell, S, Kellam, B, Mahtani, M, Bassett, A, Bombard, Y, Weksberg, R, Shuman, C, Cohn, R, Stavropoulos, J, Bowdin, S, Hildebrandt, M, Wei, W, Romm, A, Pasceri, P, Ellis, J, Ray, P, Meyn, S, Monfared, N, Hosseini, M, Joseph-George A, Keeley, F, Cook, R, Fiume, M, Lee H, Marshall, C, Davies, J, Hazell, A, Buchanan J, Szego, M, Scherer, S. The personal genome project Canada – whole genome analyses of the inaugural 56 participants. Canadian Medical Association Journal. 190(5):E126-E136. 2018. Published.