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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
Harapas CR, Robinson KS, Lay K, Wong J, Moreno Traspas R, Nabavizadeh N, Rass-Rothschild A, Boisson B, Drutman SB, Laohamonthonkul P, Bonner D, Xiong JR, Gorrell MD, Davidson S, Yu CH, Fleming MD, Gudera J, Stein J, Ben-Harosh M, Groopman E, Shimamura A, Tamary H, Kayserili H, Hatipoğlu N, Casanova JL, Bernstein JA, Zhong FL, Masters SL, Reversade B. Harapas CR, et al. Among authors: wong j. Sci Immunol. 2022 Sep 16;7(75):eabi4611. doi: 10.1126/sciimmunol.abi4611. Epub 2022 Sep 16. Sci Immunol. 2022. PMID: 36112693 Free PMC article.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, McConkey H, Masson A, Denommé-Pichon AS, Cogné B, Trochu E, Vignard V, El It F, Rodan LH, Alkhateeb MA, Jamra RA, Duplomb L, Tisserant E, Duffourd Y, Bruel AL, Jackson A, Banka S, McEntagart M, Saggar A, Gleeson JG, Sievert D, Bae H, Lee BH, Kwon K, Seo GH, Lee H, Saeed A, Anjum N, Cheema H, Alawbathani S, Khan I, Pinto-Basto J, Teoh J, Wong J, Sahari UBM, Houlden H, Zhelcheska K, Pannetier M, Awad MA, Lesieur-Sebellin M, Barcia G, Amiel J, Delanne J, Philippe C, Faivre L, Odent S, Bertoli-Avella A, Thauvin C, Sadikovic B, Reversade B, Maroofian R, Govin J, Tartaglia M, Vitobello A. Thomas Q, et al. Among authors: wong j. Am J Hum Genet. 2022 Oct 6;109(10):1909-1922. doi: 10.1016/j.ajhg.2022.08.008. Epub 2022 Aug 30. Am J Hum Genet. 2022. PMID: 36044892 Free PMC article.
Continuous vs Intermittent β-Lactam Antibiotic Infusions in Critically Ill Patients With Sepsis: The BLING III Randomized Clinical Trial.
Dulhunty JM, Brett SJ, De Waele JJ, Rajbhandari D, Billot L, Cotta MO, Davis JS, Finfer S, Hammond NE, Knowles S, Liu X, McGuinness S, Mysore J, Paterson DL, Peake S, Rhodes A, Roberts JA, Roger C, Shirwadkar C, Starr T, Taylor C, Myburgh JA, Lipman J; BLING III Study Investigators. Dulhunty JM, et al. JAMA. 2024 Jun 12. doi: 10.1001/jama.2024.9779. Online ahead of print. JAMA. 2024. PMID: 38864155
Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.
Zhen XM, Twigg SM, Wu T, Tabet E, McGill MJ, Constantino M, Mallawaarachchi A, Luo C, Thillainadesan S, Rahman Y, Wong J. Zhen XM, et al. Among authors: wong j. Clin Diabetes Endocrinol. 2024 Jun 10;10(1):17. doi: 10.1186/s40842-024-00174-9. Clin Diabetes Endocrinol. 2024. PMID: 38853254 Free PMC article. Review.
ASO Visual Abstract: Oncologic Safety of Immediate Oncoplastic Surgery Compared to Standard Breast Conserving Surgery for Patients with Invasive Lobular Carcinoma.
Falade I, Switalla K, Quirarte A, Baxter M, Soroudi D, Rothschild H, Abe SE, Goodwin K, Piper M, Wong J, Foster R, Mukhtar RA. Falade I, et al. Among authors: wong j. Ann Surg Oncol. 2024 Jun 9. doi: 10.1245/s10434-024-15485-5. Online ahead of print. Ann Surg Oncol. 2024. PMID: 38853213 No abstract available.
Longitudinal evolution of the HIV effective reproduction number following sequential expansion of treatment as prevention and pre-exposure prophylaxis in British Columbia, Canada: a population-level programme evaluation.
Lima VD, Zhu J, Barrios R, Toy J, Joy JB, Williams BG, Granich R, Wu Z, Wong J, Montaner JSG. Lima VD, et al. Among authors: wong j. Lancet HIV. 2024 Jun 4:S2352-3018(24)00094-8. doi: 10.1016/S2352-3018(24)00094-8. Online ahead of print. Lancet HIV. 2024. PMID: 38848736
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