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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Bournazos AM, Riley LG, Bommireddipalli S, Ades L, Akesson LS, Al-Shinnag M, Alexander SI, Archibald AD, Balasubramaniam S, Berman Y, Beshay V, Boggs K, Bojadzieva J, Brown NJ, Bryen SJ, Buckley MF, Chong B, Davis MR, Dawes R, Delatycki M, Donaldson L, Downie L, Edwards C, Edwards M, Engel A, Ewans LJ, Faiz F, Fennell A, Field M, Freckmann ML, Gallacher L, Gear R, Goel H, Goh S, Goodwin L, Hanna B, Harraway J, Higgins M, Ho G, Hopper BK, Horton AE, Hunter MF, Huq AJ, Josephi-Taylor S, Joshi H, Kirk E, Krzesinski E, Kumar KR, Lemckert F, Leventer RJ, Lindsey-Temple SE, Lunke S, Ma A, Macaskill S, Mallawaarachchi A, Marty M, Marum JE, McCarthy HJ, Menezes MP, McLean A, Milnes D, Mohammad S, Mowat D, Niaz A, Palmer EE, Patel C, Patel SG, Phelan D, Pinner JR, Rajagopalan S, Regan M, Rodgers J, Rodrigues M, Roxburgh RH, Sachdev R, Roscioli T, Samarasekera R, Sandaradura SA, Savva E, Schindler T, Shah M, Sinnerbrink IB, Smith JM, Smith RJ, Springer A, Stark Z, Strom SP, Sue CM, Tan K, Tan TY, Tantsis E, Tchan MC, Thompson BA, Trainer AH, van Spaendonck-Zwarts K, Walsh R, Warwick L, White S, White SM, Williams MG, Wilson MJ, Wong WK, Wright DC, Yap P, Yeung A, Young H, Jones KJ, B… See abstract for full author list ➔ Bournazos AM, et al. Among authors: shah m. Genet Med. 2022 Jan;24(1):130-145. doi: 10.1016/j.gim.2021.09.001. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906502 Free article.
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
Ma A, Newing TP, O'Shea R, Gokoolparsadh A, Murdoch E, Hayward J, Shannon G, Kevin L, Bennetts B, Ho G, Smith J, Shah M, Jones KJ, Josephi-Taylor S, Sandaradura SA, Adès L, Jamieson R, Rankin NM. Ma A, et al. Among authors: shah m. J Paediatr Child Health. 2024 Apr-May;60(4-5):118-124. doi: 10.1111/jpc.16547. Epub 2024 Apr 11. J Paediatr Child Health. 2024. PMID: 38605555
Biallelic NDC1 variants that interfere with ALADIN binding are associated with neuropathy and triple A-like syndrome.
Smits DJ, Dekker J, Douben H, Schot R, Magee H, Bakhtiari S, Koehler K, Huebner A, Schuelke M, Darvish H, Vosoogh S, Tafakhori A, Jameie M, Taghiabadi E, Wilson Y, Shah M, van Slegtenhorst MA, Medici-van den Herik EG, van Ham TJ, Kruer MC, Mancini GMS. Smits DJ, et al. Among authors: shah m. HGG Adv. 2024 Oct 10;5(4):100327. doi: 10.1016/j.xhgg.2024.100327. Epub 2024 Jul 14. HGG Adv. 2024. PMID: 39003500 Free PMC article.
Clinical outcomes of patients diagnosed with SETBP1 mutated myeloid neoplasms.
Jabban Y, Yacout M, Baranwal A, He R, Viswanatha D, Greipp P, Jevremovic D, Bessonen K, Foran J, Palmer J, Saliba AN, Hefazi-Torghabeh M, Begna K, Hogan WJ, Mangaonkar A, Patnaik M, Shah M, Alkhateeb H, Al-Kali A. Jabban Y, et al. Among authors: shah m. Leuk Lymphoma. 2024 Nov 6:1-10. doi: 10.1080/10428194.2024.2425048. Online ahead of print. Leuk Lymphoma. 2024. PMID: 39504138
E. coli-Assisted Eco-Friendly Production of Biogenic Silver Cobalt Oxide (AgCoO2) Nanoparticles: Methanolysis-Based Hydrogen Production, Wastewater Remediation, and Pathogen Control.
Irshad A, Mahmood S, Fazal T, Iqbal S, Rehman MU, Zidan A, Shah M, Bahadur A, Hayat A, Khan A, Malik AA, Awwad NS, Ibrahium HA. Irshad A, et al. Among authors: shah m. Microsc Res Tech. 2024 Nov 4. doi: 10.1002/jemt.24718. Online ahead of print. Microsc Res Tech. 2024. PMID: 39494495
Accounts of Spine and Paraspinal Disease while Playing Golf.
Carnovale B, Lavadi RS, Choudhary A, Gajjar AA, Kumar RP, Hudson JS, Shah M, Hamilton DK, Agarwal N. Carnovale B, et al. Among authors: shah m. World Neurosurg. 2024 Oct 25:S1878-8750(24)01776-5. doi: 10.1016/j.wneu.2024.10.072. Online ahead of print. World Neurosurg. 2024. PMID: 39490576
7,770 results