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Genome sequencing in congenital cataracts improves diagnostic yield.
Ma A, Grigg JR, Flaherty M, Smith J, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Slater K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Brown NJ, Leighton SE, Amor DJ, Goel H, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: cheng a. Hum Mutat. 2021 Sep;42(9):1173-1183. doi: 10.1002/humu.24240. Epub 2021 Jun 15. Hum Mutat. 2021. PMID: 34101287
Revealing hidden genetic diagnoses in the ocular anterior segment disorders.
Ma A, Yousoof S, Grigg JR, Flaherty M, Minoche AE, Cowley MJ, Nash BM, Ho G, Gayagay T, Lai T, Farnsworth E, Hackett EL, Fisk K, Wong K, Holman KJ, Jenkins G, Cheng A, Martin F, Karaconji T, Elder JE, Enriquez A, Wilson M, Amor DJ, Stutterd CA, Kamien B, Nelson J, Dinger ME, Bennetts B, Jamieson RV. Ma A, et al. Among authors: cheng a. Genet Med. 2020 Oct;22(10):1623-1632. doi: 10.1038/s41436-020-0854-x. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499604 Free PMC article.
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Greenlees R, et al. Among authors: cheng a. Hum Mol Genet. 2015 Oct 15;24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231217
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: cheng a. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
Genomic investigation and clinical correlates of the in vitro β-lactam: NaHCO3 responsiveness phenotype among methicillin-resistant Staphylococcus aureus isolates from a randomized clinical trial.
Petersiel N, Giulieri S, Daniel DS, Fan S-H, Ersoy SC, Davis JS, Bayer AS, Howden BP, Tong SYC; CAMERA2 study group. Petersiel N, et al. Antimicrob Agents Chemother. 2024 Jun 5:e0021824. doi: 10.1128/aac.00218-24. Online ahead of print. Antimicrob Agents Chemother. 2024. PMID: 38837393
Aerosol Box Use in Reducing Health Care Worker Contamination During Airway Procedures (AIRWAY) Study: Secondary Workload and Provider Outcomes in a Simulation-Based Trial.
Singer Harel D, Lin Y, Lo CY, Cheng A, Davidson J, Chang TP, Matava C, Buyck M, Neveu G, Collia N, Fayyaz J, Manshadi K, Levy A, Pellerin S, Pirie J; International Network for Simulation-based Pediatric Innovation, Research, and Education Aerosol Generating Medical Procedures (INSPIRE AGMP) Investigators. Singer Harel D, et al. Among authors: cheng a. Pediatr Crit Care Med. 2024 Jun 5. doi: 10.1097/PCC.0000000000003535. Online ahead of print. Pediatr Crit Care Med. 2024. PMID: 38836694
Sinonasal chondrosarcoma in a llama.
Cheng A, Horzmann K, Yin JH, Titos P, Bayne JE, Neto R. Cheng A, et al. J Vet Diagn Invest. 2024 Jun 5:10406387241258313. doi: 10.1177/10406387241258313. Online ahead of print. J Vet Diagn Invest. 2024. PMID: 38835270
5,835 results