Recent Publications

picture of Dr. Shawn Li

2023

Jan 2023   Feb 2023   Mar 2023   Apr 2023   May 2023   June 2023

July 2023   Aug 2023   Sept 2023   Oct 2023   Nov 2023

Archives

Nov 2023

  1. Hartley T, Marshall D, Acker M, Fooks K, Gillespie MK, Price EM, Graham ID, White-Brown A, MacKay L, Macdonald SK, Brady L, Hui AY, Andrews JD, Chowdhury A, Wall E, Soubry É, Ediae GU, Rojas S, Assamad D, Dyment D, Tarnopolsky M, Sawyer SL, Chisholm C, Lemire G, Amburgey K, Lazier J, Mendoza-Londono R, Dowling JJ, Balci TB, Armour CM, Bhola PT, Costain G, Dupuis L, Carter M, Badalato L, Richer J, Boswell-Patterson C, Kannu P, Cordeiro D, Warman-Chardon J, Graham G, Siu VM, Cytrynbaum C, Rusnak A, Aul RB, Yoon G, Gonorazky H, McNiven V, Mercimek-Andrews S, Guerin A, Deshwar AR, Marwaha A, Weksberg R, Karp N, Campbell M, Al-Qattan S, Shuen AY, Inbar-Feigenberg M, Cohn R, Szuto A, Inglese C, Poirier M, Chad L, Potter B, Boycott KM, Hayeems R; Care4Rare Canada Consortium. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for rare disease patients in a publicly-funded healthcare system: a prospective cohort study. Genet Med. 2023 Nov 1:101012.
  2. Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlíková Pourová R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne MC, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright MS, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie RJ, Lyons MJ, Douglas J, Nowak CB, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk M, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni-Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Ange-Line B, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt RJ, Randolph LM, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia Moya L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Abdallah H, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser JM, Shoubridge C, Corbett MA, Barnett C, Gecz J, Leppig KA, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest. 2023 Nov 14:e171235.
  3. Rowland ME, Jiang Y, Shafiq S, Ghahramani A, Pena-Ortiz MA, Dumeaux V, Bérubé NG. Systemic and intrinsic functions of ATRX in glial cell fate and CNS myelination in male mice. Nat Commun. 2023 Nov 4;14(1):7090
  4. Ying S, Heung T, Thiruvahindrapuram B, Engchuan W, Yin Y, Blagojevic C, Zhang Z, Hegele RA, Yuen RKC, Bassett AS. Polygenic risk for triglyceride levels in the presence of a high impact rare variant. BMC Med Genomics. 2023 Nov 8;16(1):281. 
  5. Russo MT, Rogato A, Jaubert M, Karas BJ, Falciatore A. Phaeodactylum tricornutum: An established model species for diatom molecular research and an emerging chassis for algal synthetic biology. J Phycol. 2023 Nov 17.

Oct 2023

  1. Sabbagh Q, Haghshenas S, Piard J, Trouvé C, Amiel J, Attié-Bitach T, Balci T, Barat-Houari M, Belonis A, Boute O, Brightman DS, Bruel AL, Caraffi SG, Chatron N, Collet C, Dufour W, Edery P, Fong CT, Fusco C, Gatinois V, Gouy E, Guerrot AM, Heide S, Joshi A, Karp N, Keren B, Lesieur-Sebellin M, Levy J, Levy MA, Lozano C, Lyonnet S, Margot H, Marzin P, McConkey H, Michaud V, Nicolas G, Nizard M, Paulet A, Peluso F, Pernin V, Perrin L, Philippe C, Prasad C, Prasad M, Relator R, Rio M, Rondeau S, Ruault V, Ruiz-Pallares N, Sanchez E, Shears D, Siu VM, Sorlin A, Tedder M, Tharreau M, Mau-Them FT, van der Laan L, Van Gils J, Verloes A, Whalen S, Willems M, Yauy K, Zuntini R, Kerkhof J, Sadikovic B, Geneviève D. Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals. Genet Med. 2023 Oct 17:101007. 
  2. Librais GMN, Jiang Y, Iqra R, Brandl CJ, Shapiro RS, Lajoie P. Evolutionary diversity of the control of the azole response by Tra1 across yeast species. G3 (Bethesda). 2023 Oct 27:jkad250.
  3. Dumeaux V, Massahi S, Bettauer V, Mottola A, Dukovny A, Khurdia SS, Costa ACBP, Omran RP, Simpson S, Xie JL, Whiteway M, Berman J, Hallett MT. Candida albicans exhibits heterogeneous and adaptive cytoprotective responses to anti-fungal compounds. Elife. 2023 Oct 27;12:e81406.
  4. Hegele RA. Comment on Huh et al. Remnant Cholesterol Is an Independent Predictor of Type 2 Diabetes: A Nationwide Population-Based Cohort Study. Diabetes Care 2023;46:305-312. Diabetes Care. 2023 Oct 1;46(10):e204.
  5. Frederick MI, Hovey OFJ, Kakadia JH, Shepherd TG, Li SSC, Heinemann IU. Proteomic and phosphoproteomic reprogramming in epithelial ovarian cancer metastasis. Mol Cell Proteomics. 2023 Oct 9:100660. 
  6. Hamad AF, Yan L, Jafari Jozani M, Hu P, Delaney JA, Lix LM. Developing a prediction model of children asthma risk using population-based family history health records. Pediatr Allergy Immunol. 2023 Oct;34(10):e14032.
  7. Reinecke M, Brear P, Vornholz L, Berger BT, Seefried F, Wilhelm S, Samaras P, Gyenis L, Litchfield DW, Médard G, Müller S, Ruland J, Hyvönen M, Wilhelm M, Kuster B. Chemical proteomics reveals the target landscape of 1,000 kinase inhibitors. Nat Chem Biol. 2023 Oct 30.
  8. Alfaidi M, Evans PC, Pickering JG. Editorial: Endothelial-to-mesenchymal transition in cardiovascular disease. Front Cardiovasc Med. 2023 Oct 12;10:1290050.

Sept 2023

  1. Martinez-Valbuena I, Lee S, Santamaria E, Irigoyen JF, Forrest S, Li J, Tanaka H, Couto B, Reyes NG, Qamar H, Karakani AM, Kim A, Senkevich K, Rogaeva E, Fox SH, Tartaglia C, Visanji NP, Andrews T, Lang AE, Kovacs GG. 4R-Tau seeding activity unravels molecular subtypes in patients with Progressive Supranuclear Palsy. bioRxiv [Preprint]. 2023 Sep 29:2023.09.28.559953.
  2. Bleyer AJ, Kidd KO, Williams AH, Johnson E, Robins V, Martin L, Taylor A, Kim A, Bowline I, Connaughton DM, Langefeld CD, Zivna M, Kmoch S. Maternal health and pregnancy outcomes in autosomal dominant tubulointerstitial kidney disease. Obstet Med. 2023 Sep;16(3):162-169. 
  3. Ham DT, Browne TS, Banglorewala PN, Wilson TL, Michael RK, Gloor GB, Edgell DR. A generalizable Cas9/sgRNA prediction model using machine transfer learning with small high-quality datasets. Nat Commun. 2023 Sep 7;14(1):5514.
  4. Hegele RA. Illuminating the full spectrum of APOE variation. Atherosclerosis. 2023 Sep 28:117311. 
  5. Konermann L, Liu Z, Haidar Y, Willans MJ, Bainbridge NA. On the Chemistry of Aqueous Ammonium Acetate Droplets during Native Electrospray Ionization Mass Spectrometry. Anal Chem. 2023 Sep 5. 
  6. Jash S, Banerjee S, Cheng S, Wang B, Qiu C, Kondo A, Ernerudh J, Zhou XZ, Lu KP, Sharma S. Cis P-tau is a central circulating and placental etiologic driver and therapeutic target of preeclampsia. Nat Commun. 2023 Sep 5;14(1):5414. 
  7. Yin H, Staples SCR, Pickering JG. The fundamentals of fibroblast growth factor 9. Differentiation. 2023 Sep 22:S0301-4681(23)00070-1. 
  8. Shirley BC, Mucaki EJ, Knoll JHM, Rogan PK. Radiation exposure determination in a secure, cloud-based online environment. Radiat Prot Dosimetry. 2023 Sep 18;199(14):1465-1471. 
  9. Almudhry M, Prasad AN, Rupar CA, Tay KY, Ratko S, Jenkins ME, Prasad C. A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case report. Front Neurol. 2023 Sep 15;14:1214137.

Aug 2023

  1. Stefanski A, Pérez-Palma E, Brünger T, Montanucci L, Gati C, Klöckner C, Johannesen KM, Goodspeed K, Macnee M, Deng AT, Aledo-Serrano Á, Borovikov A, Kava M, Bouman AM, Hajianpour MJ, Pal DK, Engelen M, Hagebeuk EEO, Shinawi M, Heidlebaugh AR, Oetjens K, Hoffman TL, Striano P, Freed AS, Futtrup L, Balslev T, Abulí A, Danvoye L, Lederer D, Balci T, Nabavi Nouri M, Butler E, Drewes S, van Engelen K, Howell KB, Khoury J, May P, Trinidad M, Froelich S, Lemke JR, Tiller J, Freed AN, Kang JQ, Wuster A, Møller RS, Lal D. SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis. Brain. 2023 Aug 30:awad292. 
  2. Ahmad M, Sniderman AD, Hegele RA. Apolipoprotein B in cardiovascular risk assessment. CMAJ. 2023 Aug 28;195(33):E1124. 
  3. Mancini GBJ, Ryomoto A, Yeoh E, Brunham LR, Hegele RA. Recommendations for statin management in primary prevention: disparities among international risk scores. Eur Heart J. 2023 Aug 28:ehad539. 
  4. Gill PK, Hegele RA. New biological therapies for low-density lipoprotein cholesterol. Can J Cardiol. 2023 Aug 8:S0828-282X(23)01577-5. 
  5. Perera SD, Wang J, McIntyre AD, Hegele RA. Variability of longitudinal triglyceride phenotype in patients heterozygous for pathogenic APOA5 variants. J Clin Lipidol. 2023 Aug 7:S1933-2874(23)00247-7.
  6. Watts GF, Schwabe C, Scott R, Gladding PA, Sullivan D, Baker J, Clifton P, Hamilton J, Given B, Melquist S, Zhou R, Chang T, San Martin J, Gaudet D, Goldberg IJ, Knowles JW, Hegele RA, Ballantyne CM. RNA interference targeting ANGPTL3 for triglyceride and cholesterol lowering: phase 1 basket trial cohorts. Nat Med. 2023 Aug 25.
  7. Gould NL, Scherer GR, Carvalho S, Shurrush K, Kayyal H, Edry E, Elkobi A, David O, Foqara M, Thakar D, Pavesi T, Sharma V, Walker M, Maitland M, Dym O, Albeck S, Peleg Y, Germain N, Babaev I, Sharir H, Lalzar M, Shklyar B, Hazut N, Khamaisy M, Lévesque M, Lajoie G, Avoli M, Amitai G, Lefker B, Subramanyam C, Shilton B, Barr H, Rosenblum K. Specific quinone reductase 2 inhibitors reduce metabolic burden and reverse Alzheimer's disease phenotype in mice. J Clin Invest. 2023 Aug 10:e162120.
  8. Litchfield DW, Gyenis L, Menyhart D, Roffey SE. Towards the CSNK2 phosphoproteome - With lessons from the COVID-19 pandemic to revealing the secrets of CSNK2 and its promise as a therapeutic target. Biochim Biophys Acta Gen Subj. 2023 Aug 3:130441.
  9. Lefebvre C, Pellizzari S, Bhat V, Jurcic K, Litchfield DW, Allan AL. Involvement of the AKT Pathway in Resistance to Erlotinib and Cabozantinib in Triple-Negative Breast Cancer Cell Lines. Biomedicines. 2023 Aug 28;11(9):2406. 
  10. Wang R, Lu KP, Zhou XZ. Function and regulation of cis P-tau in the pathogenesis and treatment of conventional and nonconventional tauopathies. J Neurochem. 2023 Aug 28.
  11. Al Harthy T, Colaiacovo S, Gratton RJ, Coughlin K, Siu VM, Prasad C, Rupar C, Saleh M. Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple. Clin Case Rep. 2023 Aug 23;11(8):e7827.
  12. Marin LM, Katselis GS, Chumala P, Sanche S, Julseth L, Penz E, Skomro R, Siqueira WL. Identification of SARS-CoV-2 biomarkers in saliva by transcriptomic and proteomics analysis. Clin Proteomics. 2023 Aug 3;20(1):30.
  13. Siqueira WL, Greig L. Brewing better connections: Coffee with the dean to enhance admin-student communication. J Dent Educ. 2023 Aug 12. 
  14. Sarikahya MH, Cousineau SL, De Felice M, Szkudlarek HJ, Wong KKW, DeVuono MV, Lee K, Rodríguez-Ruiz M, Gummerson D, Proud E, Ng THJ, Hudson R, Jung T, Hardy DB, Yeung KK, Schmid S, Rushlow W, Laviolette SR. Prenatal THC exposure induces long-term, sex-dependent cognitive dysfunction associated with lipidomic and neuronal pathology in the prefrontal cortex-hippocampal network. Mol Psychiatry. 2023 Aug 1.

July 2023

  1. Connaughton DM, Bhai P, Isenring P, Mahdi M, Sadikovic B, Schenkel LC. Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome. J Mol Med (Berl). 2023 Jul 19.
  2. Schierbaum LM, Schneider S, Buerger F, Halawi AA, Seltzsam S, Wang C, Zheng B, Wu CW, Dai R, Connaughton DM, Salmanullah D, Nakayama M, Mann N, Shril S, Hildebrandt F. Prioritization of monogenic CAKUT candidate genes with existing single-cell transcriptomics data of the human fetal kidney. Nephron. 2023 Jul 27. 
  3. Haagsma J, Kolendowski B, Buensuceso A, Valdes YR, DiMattia GE, Shepherd TG. Gain-of-function p53R175H blocks apoptosis in a precursor model of ovarian high-grade serous carcinoma. Sci Rep. 2023 Jul 14;13(1):11424.
  4. Kelly RD, Parmar G, Bayat L, Maitland MER, Lajoie GA, Edgell DR, Schild-Poulter C. Noncanonical functions of Ku may underlie essentiality in human cells. Sci Rep. 2023 Jul 27;13(1):12162. 
  5. Sadiq F, Hegele RA, Catapano AL, Groselj U. Editorial: Rare dyslipidemias. Front Genet. 2023 Jul 17;14:1248435.
  6. Burnett JR, Hooper AJ, Hegele RA. Familial Combined Hypolipidemia. 2023 Jul 20. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023.
  7. Koschinsky ML, Stroes ESG, Kronenberg F. Daring to dream: Targeting lipoprotein(a) as a causal and risk-enhancing factor. Pharmacol Res. 2023 Jul 4;194:106843.
  8. Siqueira MF, Da Silva K, Rocchi M, Siqueira WL. e-Prescribing in pediatric dentistry: Lessons learned from e-learning module incorporation. J Dent Educ. 2023 Jul 15.

June 2023

  1. Garabon JJW, Boffa MB. Profibrinolytic effects of rivaroxaban are mediated by thrombin-activatable fibrinolysis inhibitor and are attenuated by a naturally occurring stabilizing mutation in enzyme. J Thromb Thrombolysis. 2023 Jun 13. 
  2. Iosef C, Knauer MJ, Nicholson M, Van Nynatten LR, Cepinskas G, Draghici S, Han VKM, Fraser DD. Plasma proteome of Long-COVID patients indicates HIF-mediated vasculo-proliferative disease with impact on brain and heart function. J Transl Med. 2023 Jun 10;21(1):377. 
  3. Watts GF, Gidding SS, Hegele RA, Raal FJ, Sturm AC, Jones LK, Sarkies MN, Al-Rasadi K, Blom DJ, Daccord M, de Ferranti SD, Folco E, Libby P, Mata P, Nawawi HM, Ramaswami U, Ray KK, Stefanutti C, Yamashita S, Pang J, Thompson GR, Santos RD. International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia. Nat Rev Cardiol. 2023 Jun 15. 
  4. Shamsudeen I, McCrindle BW, Hegele RA. Treatment of Homozygous Familial Hypercholesterolemia With ANGPTL3 Inhibitor, Evinacumab. JCEM Case Rep. 2023 Jun 8;1(3):luad058. 
  5. Schmidt AM, Sorci-Thomas MG, Chen Y, Hegele RA. Academic-Industry Partnerships: Transparency, Potential Conflict of Interest, and Communicating State-of-the-Art Technologies. Arterioscler Thromb Vasc Biol. 2023 Jun 1.
  6. Dilliott AA, Berberian SA, Sunderland KM, Binns MA, Zimmer J, Ozzoude M, Scott CJM, Gao F, Lang AE, Breen DP, Tartaglia MC, Tan B, Swartz RH, Rogaeva E, Borrie M, Finger E, Fischer CE, Frank A, Freedman M, Kumar S, Pasternak S, Pollock BG, Rajji TK, Tang-Wai DF, Abrahao A, Turnbull J, Zinman L, Casaubon L, Dowlatshahi D, Hassan A, Mandzia J, Sahlas D, Saposnik G, Grimes D, Marras C, Steeves T, Masellis M, Farhan SMK, Bartha R, Symons S, Hegele RA, Black SE, Ramirez J; ONDRI Investigators. Rare neurovascular genetic and imaging markers across neurodegenerative diseases. Alzheimers Dement. 2023 Jun 5.
  7. Malick WA, Schaefer EJ, Hegele RA, Rosenson RS. ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease. JACC Case Rep. 2023 Jun 12;18:101904.
  8. Fung DL, Liu Q, Islam S, Lac L, O'Neil L, Hitchon CA, Hu P. Deep learning-based joint detection in Rheumatoid arthritis hand radiographs. AMIA Jt Summits Transl Sci Proc. 2023 Jun 16;2023:206-215.
  9. Haidar Y, Konermann L. Effects of Hydrogen/Deuterium Exchange on Protein Stability in Solution and in the Gas Phase. J Am Soc Mass Spectrom. 2023 Jun 14.
  10. Hoffman KS, Chung CZ, Mukai T, Krahn N, Jang HK, Balasuriya N, O'Donoghue P, Söll D. Recoding UAG to selenocysteine in Saccharomyces cerevisiae. RNA. 2023 Jun 6:rna.079658.123.
  11. Kolbe RJ, Madathil SA, Marin LM, Seth R, Faraj N, Allison PJ, Quiñonez C, Glogauer M, Siqueira WL, Siqueira MF. Salivary Cortisol and Anxiety in Canadian Dentists over 1 Year of COVID-19. J Dent Res. 2023 Jun 15:220345231178726. 
  12. Seth R, Madathil SA, Siqueira WL, McNally M, Quiñonez CR, Glogauer M, Allison PJ. Validity and reliability of the COVID-19 Anxiety Syndrome Scale in Canadian dentists. Clin Psychol Psychother. 2023 Jun 20. 
  13. Tolg C, Milojevic M, Qi FW, Pavanel HA, Locke MEO, Ma J, Price M, Nelson AC, McCarthy JB, Hill KA, Turley EA. RHAMM regulates MMTV-PyMT-induced lung metastasis by connecting STING-dependent DNA damage sensing to interferon/STAT1 pro-apoptosis signaling. Breast Cancer Res. 2023 Jun 22;25(1):74. 
  14. Littlejohn C, Renaud JB, Sabourin L, Lapen DR, Pappas J, Tuteja B, Hughes D, Ussery E, Yeung KK, Sumarah MW. Environmental Concentrations of the Type 2 Diabetes Medication Metformin and its Transformation Product Guanylurea in Surface Water and Sediment in Ontario and Quebec, Canada. Environ Toxicol Chem. 2023 Jun 7. 
  15. DesRochers N, Renaud JB, Tanney JB, Ibrahim A, Yeung KK, Sumarah MW. Non-targeted Screening of Natural Products from 288 Fungal Endophytes from Canadian Fruit Crops. ACS Omega. 2023 Jun 27;8(27):24561-24572.

May 2023

  1. Sczakiel HL, Zhao M, Wollert-Wulf B, Danyel M, Ehmke N, Stoltenburg C, Damseh N, Al-Ashhab M, Balci TB, Osmond M, Andrade A, Schallner J, Porrmann J, McDonald K, Liao M, Oppermann H, Platzer K, Dierksen N, Mojarrad M, Eslahi A, Bakaeean B, Calame DG, Lupski JR, Firoozfar Z, Seyedhassani SM, Mohammadi SA, Anwaar N, Rahman F, Seelow D, Janz M, Horn D, Maroofian R, Boschann F. Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals. Eur J Hum Genet. 2023 May 15.
  2. Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 May 14.
  3. Lorey MB, Youssef A, Äikäs L, Borrelli M, Hermansson M, Assini JM, Kemppainen A, Ruhanen H, Ruuth M, Matikainen S, Kovanen PT, Käkelä R, Boffa MB, Koschinsky ML, Öörni K. Lipoprotein(a) induces caspase-1 activation and IL-1 signaling in human macrophages. Front Cardiovasc Med. 2023 May 24;10:1130162.
  4. Assini JM, Clark JR, Youssef A, Xing C, Doerfler AM, Park SH, Saxena L, Yaseen AB, Børen J, Gros R, Bao G, Lagor WR, Boffa MB, Koschinsky ML. High levels of lipoprotein(a) in transgenic mice exacerbate atherosclerosis and promote vulnerable plaque features in a sex-specific manner. Atherosclerosis. 2023 May 30:S0021-9150(23)00223-X. 
  5. Schneider S, Schierbaum L, Burger WAC, Seltzsam S, Wang C, Zheng B, Wu CW, Nakayama M, Connaughton DM, Mann N, Shalaby MA, Kari JA, ElDesoky S, Tasic V, Eid LA, Shril S, Thal DM, Hildebrandt F. Recessive CHRM5 variant as a potential cause of neurogenic bladder. Am J Med Genet A. 2023 May 22. 
  6. Gill PK, Hegele RA. Low cholesterol states: clinical implications and management. Expert Rev Endocrinol Metab. 2023 May;18(3):241-253.
  7. Cuchel M, Raal FJ, Hegele RA, Al-Rasadi K, Arca M, Averna M, Bruckert E, Freiberger T, Gaudet D, Harada-Shiba M, Hudgins LC, Kayikcioglu M, Masana L, Parhofer KG, Roeters van Lennep JE, Santos RD, Stroes ESG, Watts GF, Wiegman A, Stock JK, Tokgözoğlu LS, Catapano AL, Ray KK. 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance. Eur Heart J. 2023 May 2:ehad197.
  8. Chalazan B, Freeth E, Mohajeri A, Ramanathan K, Bennett M, Walia J, Halperin L, Roston T, Lazarte J, Hegele RA, Lehman A, Laksman Z. Genetic testing in monogenic early-onset atrial fibrillation. Eur J Hum Genet. 2023 May 22. 
  9. Iatan I, Mancini GBJ, Yeoh E, Hegele RA. Statin associated muscle symptoms (SAMS): strategies for prevention, assessment and management. Expert Rev Cardiovasc Ther. 2023 May 26:1-13. 
  10. Fung DLX, Li X, Leung CK, Hu P. A self-knowledge distillation-driven CNN-LSTM model for predicting disease outcomes using longitudinal microbiome data. Bioinform Adv. 2023 May 18;3(1):vbad059.
  11. Liu Q, Huang S, Desautels D, McManus KJ, Murphy L, Hu P. Development and validation of a prognostic 15-gene signature for stratifying HER2+/ER+ breast cancer. Comput Struct Biotechnol J. 2023 May 4;21:2940-2949.
  12. Menyhart D, Gyenis L, Jurcic K, Roffey SE, Puri A, Jovanovic P, Szkop KJ, Pittock P, Lajoie G, Axtman AD, Larsson O, Topisirovic I, Litchfield DW. Comparison of CX-4945 and SGC-CK2-1 as inhibitors of CSNK2 using quantitative phosphoproteomics: Triple SILAC in combination with inhibitor-resistant CSNK2. Curr Res Chem Biol. 2023; 3:100041.

Apr 2023

  1. Kavsak PA, Clark L, Arnoldo S, Lou A, Shea JL, Eintracht S, Lyon AW, Bhayana V, Thorlacius L, Raizman JE, Tsui AKY, Djiana R, Chen M, Huang Y, Booth RA, McCudden C, Lavoie J, Beriault DR, Blank DW, Fung AWS, Hoffman B, Taher J, St-Cyr J, Yip PM, Belley-Cote EP, Abramson BL, Borgundvaag B, Friedman SM, Mak S, McLaren J, Steinhart B, Udell JA, Wijeysundera HC, Atkinson P, Campbell SG, Chandra K, Cox JL, Mulvagh S, Quraishi AU, Chen-Tournoux A, Clark G, Segal E, Suskin N, Johri AM, Sivilotti MLA, Garuba H, Thiruganasambandamoorthy V, Robinson S, Scheuermeyer F, Humphries KH, Than M, Pickering JW, Worster A, Mills NL, Devereaux PJ, Jaffe AS. Analytic result variation for high-sensitivity cardiac troponin: Interpretation and consequences. Can J Cardiol. 2023 Apr 22:S0828-282X(23)00361-6.
  2. Rosario FJ, Chopra A, Biggar K, Powell TL, Gupta MB, Jansson T. Placental Remote Control of Fetal Metabolism: Trophoblast mTOR Signaling Regulates Liver IGFBP-1 Phosphorylation and IGF-1 Bioavailability. Int J Mol Sci. 2023 Apr 14;24(8):7273.
  3. Hegele RA. DNA testing in dyslipidemia: attitudes and complexities. Curr Opin Lipidol. 2023 Apr 1;34(2):33-34.
  4. Spagnuolo CM, Hegele RA. Recent advances in treating hypertriglyceridemia in patients at high risk of cardiovascular disease with apolipoprotein C-III inhibitors. Expert Opin Pharmacother. 2023 Apr 28:1-8.
  5. Mancini GBJ, Ryomoto A, Iatan I, Hegele RA. LDL-C Estimation Equation Performance Characteristics Highlight Value of Preferentially Using Non-HDL Cholesterol or Directly Measured Apolipoprotein B. Can J Cardiol. 2023 Apr 25:S0828-282X(23)00365-3.
  6. Lachaine J, Charron JN, Gregoire JC, Hegele RA, Leiter LA. Cost-Effectiveness of Icosapent Ethyl (IPE) for the Reduction of the Risk of Ischemic Cardiovascular Events in Canada. Clinicoecon Outcomes Res. 2023 Apr 20;15:295-308.
  7. Hunter-Schouela J, Geraghty MT, Hegele RA, Dyment DA, St Pierre D, Richer J, Sheffield H, Zariwala MA, Knowles MR, Lehman A, Dell S, Shapiro AJ, Kovesi TA. First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit. Pediatr Pulmonol. 2023 Apr 23.
  8. Hegele RA. Apolipoprotein C-II: a new look at an old protein. Eur Heart J. 2023 May 10:ehad237.
  9. Moore CC, Staroverov VN, Konermann L. Using Density Functional Theory for Testing the Robustness of Mobile-Proton Molecular Dynamics Simulations on Electrosprayed Ions: Structural Implications for Gaseous Proteins. J Phys Chem B. 2023 Apr 28.
  10. Kronenberg F, Mora S, Stroes ESG, Ference BA, Arsenault BJ, Berglund L, Dweck MR, Koschinsky ML, Lambert G, Mach F, McNeal CJ, Moriarty PM, Natarajan P, Nordestgaard BG, Parhofer KG, Virani SS, von Eckardstein A, Watts GF, Stock JK, Ray KK, Tokgözoğlu LS, Catapano AL. Frequent questions and responses on the 2022 lipoprotein(a) consensus statement of the European Atherosclerosis Society. Atherosclerosis. 2023 Apr 28:S0021-9150(23)00182-X.
  11. Zhou J, Kong YS, Vincent KM, Dieters-Castator D, Bukhari AB, Glubrecht D, Liu RZ, Quilty D, Findlay SD, Huang X, Xu Z, Yang RZ, Zhang L, Tang E, Lajoie G, Eisenstat DD, Gamper AM, Fahlman R, Godbout R, Postovit LM, Fu Y. RNA cytosine methyltransferase NSUN5 promotes protein synthesis and tumorigenic phenotypes in glioblastoma. Mol Oncol. 2023 Apr 14.
  12. Sidor NA, Velenosi TJ, Lajoie GA, Filler G, House AA, Weir MA, Thomson BK, Garg AX, Renaud JB, McDowell T, Knauer MJ, Tirona RG, Noble R, Selby N, Taal M, Urquhart BL. Investigation of N,N,N-Trimethyl-L-alanyl-L-proline Betaine (TMAP) as a Biomarker of Kidney Function. ACS Omega. 2023 Apr 21;8(17):15160-15167.
  13. Wang J, Tinney D, Grynyshyn M, Pickering JG, Power A, Dubois L, Hamilton DW. Microcirculation Surrounding End-Stage Human Chronic Skin Wounds is Associated with Endoglin/CD146/ALK-1 Expression, Endothelial Cell Proliferation and an absence of p16Ink4a. Wound Repair Regen. 2023 Apr 5.
  14. Abbasi S, Bayat L, Schild-Poulter C. Analysis of Ku70 S155 Phospho-Specific BioID2 Interactome Identifies Ku Association with TRIP12 in Response to DNA Damage. Int J Mol Sci. 2023 Apr 11;24(8):7041.
  15. Moussa DG, Kung RW, Tse JS, Siqueira WL. Mechanistic Insights into Bioengineered Antibiofilm Enamel Pellicles. J Dent Res. 2023 Apr 21:220345231162336.
  16. Tarullo SE, He Y, Daughters C, Knutson TP, Henzler CM, Price MA, Shanley R, Witschen P, Tolg C, Kaspar RE, Hallstrom C, Gittsovich L, Sulciner ML, Zhang X, Forster CL, Lange CA, Shats O, Desler M, Cowan KH, Yee D, Schwertfeger KL, Turley EA, McCarthy JB, Nelson AC. Receptor for hyaluronan-mediated motility (RHAMM) defines an invasive niche associated with tumor progression and predicts poor outcomes in breast cancer patients. J Pathol. 2023 Apr 26.

Mar 2023

  1. Simpson S, Bettauer V, Ramachandran A, Kraemer S, Mahon S, Medina M, Vallès Y, Dumeaux V, Vallès H, Walsh D, Hallett MT. A metagenomic-based study of two sites from the Barbadian reef system. Coral Reefs. 2023;42(2):359-366.
  2. Chaudhry A, Trinder M, Vesely K, Cermakova L, Jackson L, Wang J, Hegele RA, Brunham LR. Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circ Genom Precis Med. 2023 Mar 24:e003887.
  3. Paquette M, Bernard S, Cariou B, Hegele RA, Genest J, Trinder M, Brunham LR, Béliard S, Baass A. Metabolic syndrome predicts cardiovascular risk and mortality in familial hypercholesterolemia. J Clin Lipidol. 2023 Mar 22:S1933-2874(23)00064-8.
  4. Brumwell SL, Van Belois KD, Nucifora DP, Karas BJ. SLICER: A Seamless Gene Deletion Method for Deinococcus radiodurans. Biodes Res. 2023 Mar 15;5:0009.

Feb 2023

  1. Jacob EO, Hegele RA. How reliable are polygenic risk scores for risk prediction in patients with heart disease? Expert Rev Mol Diagn. 2023 Feb 3.
  2. Hang SMT, Hegele RA, Berberich AJ. Genetic determinants of pancreatitis: relevance in severe hypertriglyceridemia. Curr Opin Lipidol. 2023 Feb 2.
  3. Taboun Z, Naik N, Brown V, Lin P, Padarath M, Hegele RA, Gupta M. Awareness Among Primary Care Physicians in Canada of Guideline Recommendations for Lowering LDL-Cholesterol in High-Risk Patients. CJC Open. 2023 Feb 10;5(5):357-363.
  4. Lant JT, Hasan F, Briggs J, Heinemann IU, O'Donoghue P. Genetic Interaction of tRNA-Dependent Mistranslation with Fused in Sarcoma Protein Aggregates. Genes (Basel). 2023 Feb 18;14(2):518.
  5. Paul I, Bolzan D, Youssef A, Gagnon KA, Hook H, Karemore G, Oliphant MUJ, Lin W, Liu Q, Phanse S, White C, Padhorny D, Kotelnikov S, Chen CS, Hu P, Denis GV, Kozakov D, Raught B, Siggers T, Wuchty S, Muthuswamy SK, Emili A. Parallelized multidimensional analytic framework applied to mammary epithelial cells uncovers regulatory principles in EMT. Nat Commun. 2023 Feb 8;14(1):688.
  6. Liu C, Sun Y, Davis R, Cardona ST, Hu P. ABT-MPNN: an atom-bond transformer-based message-passing neural network for molecular property prediction. J Cheminform. 2023 Feb 26;15(1):29.
  7. Scrosati PM, Konermann L. Atomistic Details of Peptide Reversed-Phase Liquid Chromatography from Molecular Dynamics Simulations. Anal Chem. 2023 Feb 6.
  8. Hasan F, Lant JT, O'Donoghue P. Perseverance of protein homeostasis despite mistranslation of glycine codons with alanine. Philos Trans R Soc Lond B Biol Sci. 2023 Feb 27;378(1871):20220029.
  9. Li Z, Shaw GS. Role of calcium-sensor proteins in cell membrane repair. Biosci Rep. 2023 Feb 2:BSR20220765.
  10. Connelly EM, Frankel KS, Shaw GS. Parkin and mitochondrial signalling. Cell Signal. 2023 Feb 18;106:110631.

Jan 2023

  1. Roubtsova A, Scipione CA, Garçon D, Boffa MB, Seidah NG, Koschinsky ML, Prat A. Surface LDLR is a major receptor for lipoprotein(a) clearance in male mice lacking PCSK9. Biochim Biophys Acta Mol Cell Biol Lipids. 2023 Jan 25;1868(4):159288.
  2. Zheng Z, Mukhametova L, Boffa MB, Moore EE, Wolberg AS, Urano T, Kim PY. Assays to quantify fibrinolysis: strengths and limitations. Communication from the International Society on Thrombosis and Haemostasis Scientific and Standardization Committee on fibrinolysis. J Thromb Haemost. 2023 Jan 14:S1538-7836(23)00036-3.
  3. Cozma E, Rao M, Dusick M, Genereaux J, Rodriguez-Mias RA, Villén J, Brandl CJ, Berg MD. Anticodon sequence determines the impact of mistranslating tRNAAla variants. RNA Biol. 2023 Jan;20(1):791-804. 
  4. Pellegrino GM, Browne TS, Sharath K, Bari KA, Vancuren SJ, Allen-Vercoe E, Gloor GB, Edgell DR. Metabolically-targeted dCas9 expression in bacteria. Nucleic Acids Res. 2023 Jan 11:gkac1248.
  5. VanderBurgt JT, Harper O, Garnham CP, Kohalmi SE, Menassa R. Plant production of a virus-like particle-based vaccine candidate against porcine reproductive and respiratory syndrome. Front Plant Sci. 2023 Jan 24;14:1044675. 
  6. Wilhelm SDP, Kenana R, Qiu Y, O'Donoghue P, Heinemann IU. Towards a Cure for HARS Disease. Genes (Basel). 2023 Jan 18;14(2):254.
  7. Liu Q, Hu P. Radiogenomic association of deep MR imaging features with genomic profiles and clinical characteristics in breast cancer. Biomark Res. 2023 Jan 24;11(1):9. 
  8. Yin H, Pickering JG. Telomere Length: Implications for Atherogenesis. Curr Atheroscler Rep. 2023 Jan 23.
  9. Saleh AH, Rothe M, Barber DL, McKillop WM, Fraser G, Morel CF, Schambach A, Auray-Blais C, West ML, Khan A, Fowler DH, Rupar CA, Foley R, Medin JA, Keating A. Persistent hematopoietic polyclonality after lentivirus-mediated gene therapy for Fabry disease. Mol Ther Methods Clin Dev. 2023 Jan 18;28:262-271.
  10. El Kodsi DN, Tokarew JM, Sengupta R, Lengacher NA, Chatterji A, Nguyen AP, Boston H, Jiang Q, Palmberg C, Pileggi C, Holterman CE, Shutinoski B, Li J, Fehr TK, LaVoie MJ, Ratan RR, Shaw GS, Takanashi M, Hattori N, Kennedy CR, Harper ME, Holmgren A, Tomlinson JJ, Schlossmacher MG. Parkin coregulates glutathione metabolism in adult mammalian brain. Acta Neuropathol Commun. 2023 Jan 23;11(1):19.