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Chemical Basis for Qualitative and Quantitative Differences Between ABO Blood Groups and Subgroups: Implications for Organ Transplantation.
Jeyakanthan M, Tao K, Zou L, Meloncelli PJ, Lowary TL, Suzuki K, Boland D, Larsen I, Burch M, Shaw N, Beddows K, Addonizio L, Zuckerman W, Afzali B, Kim DH, Mengel M, Shapiro AM, West LJ. Jeyakanthan M, et al. Among authors: afzali b. Am J Transplant. 2015 Oct;15(10):2602-15. doi: 10.1111/ajt.13328. Epub 2015 May 26. Am J Transplant. 2015. PMID: 26014598 Free article.
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion.
Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS. Ochoa S, et al. Among authors: afzali b. Sci Transl Med. 2024 Sep 18;16(765):eadk0845. doi: 10.1126/scitranslmed.adk0845. Epub 2024 Sep 18. Sci Transl Med. 2024. PMID: 39292801
Unbiased discovery of cancer pathways and therapeutics using Pathway Ensemble Tool and Benchmark.
Wang L, Pattnaik A, Sahoo SS, Stone EG, Zhuang Y, Benton A, Tajmul M, Chakravorty S, Dhawan D, Nguyen MA, Sirit I, Mundy K, Ricketts CJ, Hadisurya M, Baral G, Tinsley SL, Anderson NL, Hoda S, Briggs SD, Kaimakliotis HZ, Allen-Petersen BL, Tao WA, Linehan WM, Knapp DW, Hanna JA, Olson MR, Afzali B, Kazemian M. Wang L, et al. Among authors: afzali b. Nat Commun. 2024 Aug 24;15(1):7288. doi: 10.1038/s41467-024-51859-9. Nat Commun. 2024. PMID: 39179644 Free PMC article.
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Moulton MJ, et al. Genet Med. 2024 Sep;26(9):101174. doi: 10.1016/j.gim.2024.101174. Epub 2024 Jun 3. Genet Med. 2024. PMID: 38847193
120 results