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Page 1
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
Luo X, Maciaszek JL, Thompson BA, Leong HS, Dixon K, Sousa S, Anderson M, Roberts ME, Lee K, Spurdle AB, Mensenkamp AR, Brannan T, Pardo C, Zhang L, Pesaran T, Wei S, Fasaye GA, Kesserwan C, Shirts BH, Davis JL, Oliveira C, Plon SE, Schrader KA, Karam R; ClinGen CDH1 Variant Curation Expert Panel. Luo X, et al. Among authors: maciaszek jl. J Med Genet. 2023 Jun;60(6):568-575. doi: 10.1136/jmg-2022-108807. Epub 2022 Dec 7. J Med Genet. 2023. PMID: 36600593 Free PMC article.
SJPedPanel: A pan-cancer gene panel for childhood malignancies.
Kolekar P, Balagopal V, Dong L, Liu Y, Foy S, Tran Q, Mulder H, Huskey AL, Plyler E, Liang Z, Ma J, Nakitandwe J, Gu J, Namwanje M, Maciaszek J, Payne-Turner D, Mallampati S, Wang L, Easton J, Klco JM, Ma X. Kolekar P, et al. medRxiv [Preprint]. 2024 Feb 9:2023.11.27.23299068. doi: 10.1101/2023.11.27.23299068. medRxiv. 2024. Update in: Clin Cancer Res. 2024 Sep 13;30(18):4100-4114. doi: 10.1158/1078-0432.CCR-24-1063 PMID: 38076942 Free PMC article. Updated. Preprint.
A new genomic framework to categorize pediatric acute myeloid leukemia.
Umeda M, Ma J, Westover T, Ni Y, Song G, Maciaszek JL, Rusch M, Rahbarinia D, Foy S, Huang BJ, Walsh MP, Kumar P, Liu Y, Yang W, Fan Y, Wu G, Baker SD, Ma X, Wang L, Alonzo TA, Rubnitz JE, Pounds S, Klco JM. Umeda M, et al. Among authors: maciaszek jl. Nat Genet. 2024 Feb;56(2):281-293. doi: 10.1038/s41588-023-01640-3. Epub 2024 Jan 11. Nat Genet. 2024. PMID: 38212634 Free PMC article.
Proposal of a new genomic framework for categorization of pediatric acute myeloid leukemia associated with prognosis.
Umeda M, Ma J, Westover T, Ni Y, Song G, Maciaszek JL, Rusch M, Rahbarinia D, Foy S, Huang BJ, Walsh MP, Kumar P, Liu Y, Fan Y, Wu G, Baker SD, Ma X, Wang L, Rubnitz JE, Pounds S, Klco JM. Umeda M, et al. Among authors: maciaszek jl. Res Sq [Preprint]. 2023 May 29:rs.3.rs-2925426. doi: 10.21203/rs.3.rs-2925426/v1. Res Sq. 2023. Update in: Nat Genet. 2024 Feb;56(2):281-293. doi: 10.1038/s41588-023-01640-3 PMID: 37398194 Free PMC article. Updated. Preprint.
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.
Flerlage JE, Myers JR, Maciaszek JL, Oak N, Rashkin SR, Hui Y, Wang YD, Chen W, Wu G, Chang TC, Hamilton K, Tithi SS, Goldin LR, Rotunno M, Caporaso N, Vogt A, Flamish D, Wyatt K, Liu J, Tucker M, Hahn CN, Brown AL, Scott HS, Mullighan C, Nichols KE, Metzger ML, McMaster ML, Yang JJ, Rampersaud E. Flerlage JE, et al. Among authors: maciaszek jl. Blood. 2023 Mar 16;141(11):1293-1307. doi: 10.1182/blood.2022016056. Blood. 2023. PMID: 35977101 Free PMC article.
Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.
Umeda M, Ma J, Huang BJ, Hagiwara K, Westover T, Abdelhamed S, Barajas JM, Thomas ME, Walsh MP, Song G, Tian L, Liu Y, Chen X, Kolekar P, Tran Q, Foy SG, Maciaszek JL, Kleist AB, Leonti AR, Ju B, Easton J, Wu H, Valentine V, Valentine MB, Liu YC, Ries RE, Smith JL, Parganas E, Iacobucci I, Hiltenbrand R, Miller J, Myers JR, Rampersaud E, Rahbarinia D, Rusch M, Wu G, Inaba H, Wang YC, Alonzo TA, Downing JR, Mullighan CG, Pounds S, Babu MM, Zhang J, Rubnitz JE, Meshinchi S, Ma X, Klco JM. Umeda M, et al. Among authors: maciaszek jl. Blood Cancer Discov. 2022 May 5;3(3):194-207. doi: 10.1158/2643-3230.BCD-21-0160. Blood Cancer Discov. 2022. PMID: 35176137 Free PMC article.
23 results