Recent Publications

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2026

Jan 2026   Feb 2026   Mar 2026   Apr 2026   May 2026   June 2026

 

Archives

 

June 2026

  1. Hansen A, Luca S, Moran O, Babul-Hirji R, Coe TB, Wilk K, Assamad D, Fooks K, Venkataramanan V, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Ladouceur VB, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ. Understanding the decision of parents to opt-out of medically actionable secondary findings offered through genome sequencing. J Genet Couns. 2026 Jun;35(3):e70218.

May 2026

  1. Singh SK, Jaure A, Gill MP, Johnston O, Gill J, Caton N, Pâquet M, John P, Ogniben A, Chritchley S, Dipchand C, Gill J, Pike P, Shamseddin MK, Bau J, Gourishankar S, Lesage J, Mainra R, Yohanna S, Connaughton DM, Gogan N, Storsley L, Redditt V, Duff M, Cazzolli R, Dominello A, Silva JR, Scholes-Robertson N, Sinka V, Gill JS. Recommendations for Living Kidney Donor Follow-Up in Canada. Clin Transplant. 2026 May;40(5):e70571.
  2. Cheng LL, Powers R, Brua RB, Casu F, Copié V, Gebregiworgis T, Gouveia GJ, Kaur G, Pathmasiri W, Phelan MM, Rovnyak D, Schock TB, Theodorou A, Uchimiya M, Takis PG; NMR Working Group of the Metabolomics Quality Assurance and Quality Control Consortium (mQACC) and NMR Special Interest Group of Metabolomics Association of North America (MANA). Procedural Rigor and Reproducibility in NMR Metabolomics: Community Practices and Challenges. Crit Rev Anal Chem. 2026 May 22:1-14.
  3. Hegele RA. Promise of ANGPTL3 as a therapeutic target for controlling cholesterol levels. Expert Opin Ther Targets. 2026 May 7.
  4. Berry ASF, Cawley D, Hattenberger A, Chang AR, Hegele RA, Gidding SS, Oetjens MT. Monogenic ALB Variants as Determinants of Severe Hypercholesterolemia: A Population-Based Cohort Study. J Am Coll Cardiol. 2026 May 4:S0735-1097(26)05987-5.
  5. Mendes MI, Smith DE, Spek V, Bosch AM, Corpeleijn WE, Engelen M, Fuchs SA, Hadchouel A, Heinemann IU, Houtkooper RH, Hoytema van Konijnenburg EMM, Kemp S, Langeveld M, Karnebeek CDM, Pop A, Siu VM, Wolf NI, Salomons GS. Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies. J Inherit Metab Dis. 2026 May;49(3):e70184.
  6. Siu VM, Kenana R, Chakrabarti R, Wilhelm SDP, Andrews J, Leat SJ, Parker C, Miller M, Nangle LA, McCaul W, Chowdhury A, Hutchings N, Adams RA, Guy L, Rhody M, Juncal V, Mendes MI, Smith DEC, Salomons GS, Moresco AA, McCulloch DL, Morton DH, Heinemann IU, Rupar CA. Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms. Am J Med Genet A. 2026 May 19.
  7. Hanifi K, Konermann L. Formation of gaseous protein ions from aqueous ammonium acetate droplets during native electrospray: insights from mobile-proton molecular dynamics simulations. Phys Chem Chem Phys. 2026 May 20.

Apr 2026

  1. Ahmed M, Volkening K, Mclellan C, Shoesmith C, Balci TB, Strong MJ. Emerging strategies for interpreting variants of uncertain significance (VUS) in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 2026 Apr 16:1-15.
  2. Cheng S, Kolendowski B, Ramos-Valdes Y, Shepherd TG, DiMattia GE. HDAC Inhibition Induces Transient Phenotypic Inertia in Dormant OCCC Spheroids by Derepression of Cell Cycle Genes. Cells. 2026 Apr 10;15(8):673.
  3. Stuckless EE, Gai LS, Slattery SS, Dempsey KH, Browne TS, Gloor GB, Edgell DR. PHYCUT: Scalable Multiplex CRISPR/Cas9 Editing for Genome Engineering in the Diatom Phaeodactylum tricornutum. ACS Synth Biol. 2026 Apr 14.
  4. Charron CA, Kaldis A, Shamriz S, Diarra MS, Garnham CP, Menassa R. Simultaneous modification of Thermotoga maritima encapsulin subunits to produce multivalent nanoparticle vaccines for non-typhoidal Salmonella enterica. FEBS J. 2026 Apr 28.
  5. Hegele RA. Genetic insights from Greenland: when geography, history and genomics converge. Curr Opin Lipidol. 2026 Apr 1;37(2):27-29.
  6. Watts GF, Scott R, Sullivan D, Baker J, Clifton P, Hamilton J, Given B, Melquist S, Zhou R, Gaudet D, Goldberg IJ, Knowles JW, Leeper NJ, Hegele RA, Ballantyne CM. Zodasiran for cholesterol and triglyceride lowering in patients with hyperlipidemia: final report of phase 1 basket trial. Nat Med. 2026 Apr 7.
  7. Paquette M, Trinder M, Ruel I, Guay SP, Hegele RA, Genest J, Brunham LR, Baass A. Integration of a polygenic score into clinical risk prediction of atherosclerotic cardiovascular disease in familial hypercholesterolemia. Eur J Prev Cardiol. 2026 Apr 15:zwag203.
  8. Wong RBK, McIntyre AD, Wang J, Hegele RA, Berberich AJ. Impact of Genetic Testing in Endocrinology Practice: A Single-Centre Experience Focused on Lipid and Monogenic Diabetes Disorders. Endocr Pract. 2026 Apr 9:S1530-891X(26)00939-0.
  9. Hang S, Hegele RA. Clinical identification of familial chylomicronemia syndrome and novel therapeutic options. Expert Rev Cardiovasc Ther. 2026 Apr 20.
  10. Matos A, Cawthorn WP, Marinho-Dias J, Ramalheira S, Roncon S, Pereira D, Ribeiro T, Rodrigues C, Mariz M, Miranda A, Brízido H, Bicho M, Medeiros P, Carneiro A, Trigo F, Hu P, Pereira F, Duarte H, Gray CD, Macgillivray T, Ramsay AG, Oliveira MJ, Ribeiro R. Systemic and Local Adiposity in the Bone Marrow Microenvironment Associated With Improved Prognosis in Hodgkin Lymphoma: Imaging and Molecular Analysis. Int J Cancer. 2026 Apr 20.
  11. Psalmon G, Pipier A, Barbotte M, Hudson RHE, Neidle S, Monchaud D. DNA damaging properties of G-quadruplex ligand QN-302 are potentiated by the DNA repair inhibitor Olaparib and mitigated by the molecular helicase PhpC. Genome Biol. 2026 Apr 11.
  12. Nucifora DP, Saini TS, Karas BJ. Direct Genome Transfer from Acholeplasma laidlawii to Yeast. ACS Synth Biol. 2026 Apr 6.
  13. Michos ED, Saucier S, Mehran R, Koschinsky ML. Lipoprotein(a) and Women's Cardiovascular Health: A Review. JACC Adv. 2026 Apr 21:102744.
  14. Wilkinson MJ, Koschinsky ML. It's time to test all adults for lipoprotein(a). J Clin Lipidol. 2026 Apr 27:S1933-2874(26)00126-1.
  15. Xie XY, Al-Banaa NN, Tian Y, Bell GI, Kuljanin M, Cooper TT, Podgers CJ, Sharma A, Xenocostas A, Lajoie GA, Hess DA. Discovery and validation of islet regenerative proteins secreted by human multipotent stromal cells. Stem Cells Transl Med. 2026 Apr 27;15(5):szag022.

Mar 2026

  1. Assamad D, Hansen A, Fooks K, Luca S, Venkataramanan V, Hsue E, Shickh S, Yan J, Wu V, Badalato L, Balci TB, Beausejour Ladouceur V, Chad L, Chisholm C, Gillespie MK, Huang L, Jarinova O, Lau L, Lee W, Mackley MP, Marshall CR, Mendoza-Londono R, Morel CF, Richer J, Sawyer S, Stavropoulos DJ, Szuto A, Tarnopolsky M, Villani A, Zahavich L, Somerville MJ, Boycott KM, Ungar WJ, Hayeems RZ. Understanding the impact of genomic secondary findings on clinical care and patient experience: a protocol for a prospective observational study. BMJ Open. 2026 Mar 27;16(3):e115821.
  2. Chuecos MA, Park SH, Bhakta MM, Too-Chiobi U, Betancourth D, Cao M, De Giorgi M, Walkey CJ, Tiwari A, Godin B, Assini JM, Palmer DJ, Ng P, Boffa MB, Koschinsky ML, Bao G, Lagor WR. Cytosine base editing of LPA in transgenic mice averts large deletions. Mol Ther. 2026 Mar 3:S1525-0016(26)00178-4.
  3. Koschinsky ML, Boffa MB. Addressing the Lp(a) hypothesis: will lowering Lp(a) decrease the risk of cardiovascular events? Nat Rev Cardiol. 2026 Mar 17.
  4. Schott C, Relouw S, Arnaldi M, Baker C, Offerni-Almada G, Wang J, McIntyre AD, Son S, Cuerden M, Arnold JB, Burman N, Colaiacovo S, Solo K, Boudville N, Dipchand C, Feldman LS, Gill J, Gunaratnam L, House AA, Iyer H, Johnson J, Karpinski M, Klarenbach S, Knoll G, Lok CE, Lotfy K, Miller M, Monroy-Cuadros M, Nguan C, Rehman F, Roshanov PS, Prasad GVR, Storsley L, Weir MA, Hegele RA, Garg AX, Connaughton DM. Genetic testing in kidney transplantation and living kidney donor risk assessment. Kidney Int. 2026 Mar 26:S0085-2538(26)00234-6.
  5. Shamriz S, Mak PHW, Charron CA, Yin X, Garnham CP, Kiarie EG, Diarra MS, Menassa R. Protein nanoparticle-based vaccine candidate produced in Nicotiana benthamiana against non-typhoidal Salmonella enterica in poultry. Front Plant Sci. 2026 Mar 6;17:1761000.
  6. Hegele RA. Risk-weighted apolipoprotein B: is it worth the weight? Eur Heart J. 2026 Mar 5:ehag134.
  7. Hang S, Hegele RA. The evaluation of plozasiran for the treatment of familial chylomicronemia syndrome. Expert Rev Endocrinol Metab. 2026 Mar 20:1-10.
  8. Ng YK, Currie SQW, Aliyari E, Cui C, Vahidi S, Konermann L. Catalytic Activity of Electrosprayed Enzyme Ions in the Gas Phase. J Am Chem Soc. 2026 Mar 17.
  9. Lassen M, Pardee K, Bradic I, Pedersen LH, Kubrak O, Ahrentløv N, Clancy S, Koyama T, Necakov A, Liu S, Kuksis A, Lajoie G, Edwards A, Teleman AA, Larsen MR, Krause HM, Texada MJ, Rewitz K. HR3/RORα-mediated cholesterol sensing regulates TOR signaling. Nat Commun. 2026 Mar 30.
  10. Webb JD, Buensuceso A, Tomas EJ, Borrelli MJ, Viola L, Hovey O, Ramos Valdes Y, Singha B, Li SS, Shepherd TG. ULK1 promotes metastatic progression in experimental models of epithelial ovarian cancer. Oncogene. 2026 Mar 5.
  11. Stranges V, Van Nynatten LR, Tweddell D, Cela E, Morello M, Daley M, O'Gorman DB, Cepinskas G, Fraser DD. Proteomic profiling and pathway analyses reveal molecular signatures and immune networks in pediatric sepsis. Inflamm Res. 2026 Mar 27;75(1):71.
  12. Minkhorst KLH, Lewandowski NJ, Tolg C, Pautler JD, Wong E, Turley EA, DeLyzer T. A RHAMM Peptide Mimetic Reduces Capsule Fibrosis in a Novel Rodent Model of Radiation-Induced Capsular Contracture. Plast Reconstr Surg. 2026 Mar 10.

Feb 2026

  1. McDonald DW, Chugh N, Sava R, Duennwald ML. FUS and TDP-43 aggregation are uncoupled from toxicity in ageing yeast models. BMC Biol. 2026 Feb 6.
  2. Browne TS, Edgell DR, Gloor GB. Better data for better predictions: data curation improves deep learning for sgRNA/Cas9 prediction. PeerJ. 2026 Feb 10;14:e20706.
  3. Dos Santos SJ, Gloor GB. Incorporating Scale Uncertainty into Differential Expression Analyses Using ALDEx2. Curr Protoc. 2026 Feb;6(2):e70307.
  4. Schwantes-An TH, Abreu MA, Neuschwander-Tetri BA, Wang J, Guo X, Tan J, Hegele RA, Davidson NO, Lotta L, Verweij N, Yates KP, Rotter JI, Chalasani N. Evaluation of Pathogenic Variants Associated With Monogenic Disorders of Dyslipidemia in Patients With Well Characterised MASLD. Liver Int. 2026 Feb;46(2):e70486.
  5. Peterson AL, Ashraf AP, Bachman J, Hegele RA, Rashad M, South AM, Tran AH, Zachariah J, Wong JP; American Heart Association Cardiovascular Disease Prevention Committee of the Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Clinical Cardiology; Council on Genomic and Precision Medicine; Council on Lifestyle and Cardiometabolic Health; Council on Basic Cardiovascular Sciences; and Council on Cardiovascular and Stroke Nursing. Screening, Diagnosis, and Management of Pediatric Hypertriglyceridemia: A Scientific Statement From the American Heart Association. Arterioscler Thromb Vasc Biol. 2026 Feb 18.
  6. Nordestgaard BG, Hegele RA. Residual lipid risk in atherosclerotic cardiovascular disease. Eur Heart J. 2026 Feb 17:ehag087.
  7. Mahmood M, Wilhelm SDP, Mendes MI, Smith DE, Kenana R, Hoffman K, Moresco AA, Siu VM, Heinemann IU. Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease. NAR Mol Med. 2026 Feb 4;3(1):ugag013.
  8. Rozik P, Moore H, Lant JT, Hoffman KS, Schultz SK, Afzal B, Chan PP, Flynn LE, Heinemann IU, Lowe TM, O'Donoghue P. Mistranslation from an endogenous tRNA variant in human pan-genome cell lines. Nucleic Acids Res. 2026 Feb 24;54(5):gkag224.
  9. Min S, Lac L, Hu P. A copula-infused graph neural network for cell type classification in single-cell RNA sequencing data. Comput Struct Biotechnol J. 2026 Feb 2;31:485-499.

Jan 2026

  1. Tchatchoua Ngassam B, Niu H, Pang S, Shydlouskaya V, Andrews TS. Applications of AI to single-cell and spatial transcriptomics: current state-of-the-art and challenges. Front Bioinform. 2026 Jan 27;5:1715821.
  2. Pena-Ortiz MA, Sunstrum JK, Ghahramani A, McConkey H, Dumeaux V, Inoue W, Bérubé NG. Astrocytic Chromatin Remodeler ATRX Gates Hippocampal Memory Consolidation Through Metabolic and Synaptic Regulation. Glia. 2026 Jan;74(1):e70098.
  3. Loedige KW, Hall MA, Ghimirey S, Stead BE, Edgell DR. Modular determinants of cleavage preference in GIY-YIG nucleases revealed by block-based DNA shuffling and directed evolution. Nucleic Acids Res. 2026 Jan 5;54(1):gkaf1430. 
  4. Ham DT, Browne TS, Zhang CQ, Foo GW, Uruthirapathy AS, Gloor GB, Edgell DR. Machine learning reveals sequence and methylation determinants of SaCas9-PAM interactions in bacteria. Nucleic Acids Res. 2026 Jan 14;54(2):gkaf1520.
  5. Mancini GBJ, Ryomoto A, Ruel I, Iatan I, Genest J, Raal FJ, Santos RD, Marte AP, Kennedy BA, Brunham LR, Gaudet D, Larouche M, Brisson D, Hegele RA; Canadian Homozygous Familial Hypercholesterolemia - HoFH Registry. Assessment of LDL receptor-dependent lipid lowering therapies in patients with homozygous familial hypercholesterolemia according to functional genotype. Atherosclerosis. 2026 Jan 29;414:120646.
  6. Hegele RA. Nucleic acid based therapies - the next frontier in treating dyslipidemias. Can J Cardiol. 2026 Jan 23:S0828-282X(26)00054-1.
  7. Wiegman A, Peterson AL, Bruckert E, Defesche JC, Schweizer A, Bergeron J, Chueca MJ, Roeters van Lennep JE, Santos RD, Schwab KO, Lesogor A, Zhang S, Hegele RA. Efficacy and safety of inclisiran in adolescents with heterozygous familial hypercholesterolaemia (ORION-16): a two-part, randomised, multicentre clinical trial. Lancet Diabetes Endocrinol. 2026 Jan 27:S2213-8587(25)00351-1.
  8. Hegele RA. Genetic instruments and drug prediction: will APOC3 silencing reduce cardiovascular end points? Eur J Prev Cardiol. 2026 Jan 7:zwag018.
  9. Erzingatzian A, Al-Baldawi Z, Ruel I, Brown L, Sherman MH, Laflamme N, Bergeron J, Couture P, Paquette M, Baass A, Brisson D, Larouche M, Gaudet D, Cermakova L, Wan D, Brunham LR, Francis GA, Mancini GBJ, Kennedy BA, Hegele RA, Lewis GF, McCrindle BW, Ransom T, McPherson R, Piazza N, de Varennes B, Genest J, Iatan I. Aortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry. JACC Adv. 2026 Jan 22;5(2):102505.
  10. Ahmad Z, Agarwala A, Cuchel M, Barton Duell P, Hegele RA, Hudgins L, Jamison A, Kalra D, Khera A, Knowles JW, Kullo IJ, Morales A, Rothstein MA, Saseen JJ, Soffer DE, Warden BA, Weintraub WS, Williams L, Goldberg AC. Update on familial hypercholesterolemia: An expert clinical consensus from the National Lipid Association. J Clin Lipidol. 2026 Jan 29:S1933-2874(26)00010-3.
  11. Hovey OFJ, Frederick MI, Quach QM, Kakadia JH, Wu A, Yang K, Wu T, Ruan X, Kaneko T, Voss C, Heinemann IU, Li SSC. LIN28A-Dependent Kinome and Phosphoproteome Reprogramming Promotes Imatinib Resistance. Mol Cell Proteomics. 2026 Jan 19:101514.
  12. Walker EJL, Pampuch M, Deng L, Li Y, Tran G, Mock T, Karas BJ. Breaking the cell wall for efficient DNA delivery to diatoms. Nat Commun. 2026 Jan 22.
  13. Thanassoulis G, Anand S, Arsenault BJ, Bainey KR, Bell AD, Brunham LR, Iatan I, Koschinsky ML, Leiter LA, Mehta SR, Pandey AS, Pearson GJ; Canadian Lp(a) Working Group. Clinical care for patients with elevated lipoprotein(a) in Canada: a practical framework for screening, risk assessment and management. Can J Cardiol. 2026 Jan 14:S0828-282X(26)00029-2.
  14. Fischer M, Sigle M, Manke MC, Marzi J, Schütte JP, Sun N, Scheuermann S, Kopczynski D, Kollotzek F, Lingens GD, Coman C, Koeppen M, Nagy Z, Rohlfing AK, Sickmann A, Litchfield DW, Rebholz H, Seitz C, Heinzmann D, Schaller M, Nieswandt B, Schenke-Layland K, Gawaz M, Walch A, Ahrends R, Münzer P, Borst O. Platelet Casein Kinase 2α is a pivotal player in arterial thrombotic occlusion and post-ischemic myocardial remodeling. Cardiovasc Res. 2026 Jan 20:cvaf269.
  15. Newman S, Gannavarapu S, Yu AC, Ratko S, Karp N, Napier M, MacLean S, Singarayer R, Rupar CA, Prasad C. Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruence. Mol Genet Metab. 2026 Jan 8;147(3):109729.
  16. Tholl SQ, McCaul W, Rupar A, Napier MP, Karp N, Yu AC, Ratko S, Khan A, Geraghty M, Prasad C. Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series. JIMD Rep. 2026 Jan 15;67(1):e70064.