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Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.
Stundon JL, Ijaz H, Gaonkar KS, Kaufman RS, Jin R, Karras A, Vaksman Z, Kim J, Corbett RJ, Lueder MR, Miller DP, Guo Y, Santi M, Li M, Lopez G, Storm PB, Resnick AC, Waanders AJ, MacFarland SP, Stewart DR, Diskin SJ, Rokita JL, Cole KA. Stundon JL, et al. Among authors: macfarland sp. Neuro Oncol. 2023 Jul 6;25(7):1331-1342. doi: 10.1093/neuonc/noac278. Neuro Oncol. 2023. PMID: 36541551 Free PMC article.
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF, MacFarland SP, Chang F, Cao K, Rathi KS, Akgumus GT, Gallo D, Lin F, Gleason A, Raman P, Aplenc R, Bagatell R, Minturn J, Mosse Y, Santi M, Tasian SK, Waanders AJ, Sarmady M, Maris JM, Hunger SP, Li MM. Surrey LF, et al. Among authors: macfarland sp. Genome Med. 2019 May 28;11(1):32. doi: 10.1186/s13073-019-0644-8. Genome Med. 2019. PMID: 31133068 Free PMC article.
RET receptor expression and interaction with TRK receptors in neuroblastomas.
Tetri LH, Kolla V, Golden RL, Iyer R, Croucher JL, Choi JH, Macfarland SP, Naraparaju K, Guan P, Nguyen F, Gaonkar KS, Raman P, Brodeur GM. Tetri LH, et al. Among authors: macfarland sp. Oncol Rep. 2020 Jul;44(1):263-272. doi: 10.3892/or.2020.7583. Epub 2020 Apr 15. Oncol Rep. 2020. PMID: 32319659
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Zhong Y, Schubert J, Wu J, Xu F, Lin F, Cao K, Zelley K, Luo M, Foster JB, Cole KA, MacFarland SP, Resnick AC, Storm PB, Li MM. Zhong Y, et al. Among authors: macfarland sp. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005397. doi: 10.1101/mcs.a005397. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32554798 Free PMC article.
DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.
Ricarte-Filho JC, Casado-Medrano V, Reichenberger E, Spangler Z, Scheerer M, Isaza A, Baran J, Patel T, MacFarland SP, Brodeur GM, Stewart DR, Baloch Z, Bauer AJ, Wasserman JD, Franco AT. Ricarte-Filho JC, et al. Among authors: macfarland sp. Front Endocrinol (Lausanne). 2023 Feb 21;14:1083382. doi: 10.3389/fendo.2023.1083382. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36896180 Free PMC article.
Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.
Luo M, Wong D, Zelley K, Wu J, Schubert J, Denenberg EH, Fanning EA, Chen J, Gallo D, Golenberg N, Patel M, Conlin LK, Maxwell KN, Wertheim GB, Surrey LF, Zhong Y, Brodeur GM, MacFarland SP, Li MM. Luo M, et al. Among authors: macfarland sp. J Natl Cancer Inst. 2024 May 3:djae102. doi: 10.1093/jnci/djae102. Online ahead of print. J Natl Cancer Inst. 2024. PMID: 38702830
A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.
Xu F, Aref-Eshghi E, Wu J, Schubert J, Wertheim G, Bhatti T, Pogoriler J, Patel M, Cao K, Long A, Fan Z, Denenberg EH, Fanning EA, Wilmoth DM, Luo M, Conlin LK, Dain AS, Zelley K, Baldino S, Balamuth N, MacFarland S, Li MM, Zhong Y. Xu F, et al. Cold Spring Harb Mol Case Stud. 2022 Apr 28;8(3):a006181. doi: 10.1101/mcs.a006181. Print 2022 Apr. Cold Spring Harb Mol Case Stud. 2022. PMID: 35232817 Free PMC article.
46 results