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Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net. Adams AD, et al. Among authors: rothberg pg. Genet Med. 2023 Sep;25(9):100358. doi: 10.1016/j.gim.2022.12.005. Epub 2023 Jul 20. Genet Med. 2023. PMID: 37470789
Clonal cytopenia of undetermined significance (CCUS)-associated reversion of donor-derived, transient αβ T-cell large granular clonal lymphocytosis, emerging post-transplant in a patient with a history of γδ T-cell large granular lymphocytic leukemia.
El Hussein S, Evans AG, Fitzsimmons JM, Leong N, Buldo M, Segal JP, Jajosky AN, Rothberg PG, Liesveld JL, Oltvai ZN. El Hussein S, et al. Among authors: rothberg pg. Cold Spring Harb Mol Case Stud. 2023 May 9;9(2):a006241. doi: 10.1101/mcs.a006241. Print 2023 Apr. Cold Spring Harb Mol Case Stud. 2023. PMID: 37160316 Free PMC article.
A Case of Acute Eosinophilic Leukemia with a Novel PHF6 Mutation.
Lipof JJ, Huselton EJ, Zent CS, Evans A, Zhang B, Rothberg PG, Bennett JM. Lipof JJ, et al. Among authors: rothberg pg. Case Rep Hematol. 2021 Jul 3;2021:5574766. doi: 10.1155/2021/5574766. eCollection 2021. Case Rep Hematol. 2021. PMID: 34285820 Free PMC article.
Proficiency Testing of Standardized Samples Shows High Interlaboratory Agreement for Clinical Next Generation Sequencing-Based Hematologic Malignancy Assays With Survey Material-Specific Differences in Variant Frequencies.
Keegan A, Bridge JA, Lindeman NI, Long TA, Merker JD, Moncur JT, Montgomery ND, Nagarajan R, Rothberg PG, Routbort MJ, Vasalos P, Xian R, Kim AS. Keegan A, et al. Among authors: rothberg pg. Arch Pathol Lab Med. 2020 Jan 27. doi: 10.5858/arpa.2019-0352-CP. Online ahead of print. Arch Pathol Lab Med. 2020. PMID: 31986076 Free article.
Performance Comparison of Different Analytic Methods in Proficiency Testing for Mutations in the BRAF, EGFR, and KRAS Genes: A Study of the College of American Pathologists Molecular Oncology Committee.
Moncur JT, Bartley AN, Bridge JA, Kamel-Reid S, Lazar AJ, Lindeman NI, Long TA, Merker JD, Rai AJ, Rimm DL, Rothberg PG, Vasalos P, Kim AS. Moncur JT, et al. Among authors: rothberg pg. Arch Pathol Lab Med. 2019 Oct;143(10):1203-1211. doi: 10.5858/arpa.2018-0396-CP. Epub 2019 Apr 10. Arch Pathol Lab Med. 2019. PMID: 30969158 Free article.
99 results