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Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Lin F, Cao K, Chang F, Oved JH, Luo M, Fan Z, Schubert J, Wu J, Zhong Y, Gallo DJ, Denenberg EH, Chen J, Fanning EA, Lambert MP, Paessler ME, Surrey LF, Zelley K, MacFarland S, Kurre P, Olson TS, Li MM. Lin F, et al. Among authors: schubert j. J Mol Diagn. 2024 Mar;26(3):191-201. doi: 10.1016/j.jmoldx.2023.11.010. Epub 2023 Dec 14. J Mol Diagn. 2024. PMID: 38103590 Free article.
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: schubert j. 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.
Application of Next Generation Sequencing in Laboratory Medicine.
Zhong Y, Xu F, Wu J, Schubert J, Li MM. Zhong Y, et al. Among authors: schubert j. Ann Lab Med. 2021 Jan;41(1):25-43. doi: 10.3343/alm.2021.41.1.25. Epub 2020 Aug 25. Ann Lab Med. 2021. PMID: 32829577 Free PMC article. Review.
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. Among authors: schubert j. 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.
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Xu F, Viaene AN, Ruiz J, Schubert J, Wu J, Chen J, Cao K, Fu W, Bagatell R, Fan Z, Long A, Pagliaroli L, Zhong Y, Luo M, Kreiger PA, Surrey LF, Wertheim GB, Cole KA, Li MM, Santi M, Storm PB. Xu F, et al. Among authors: schubert j. Acta Neuropathol Commun. 2022 Jul 14;10(1):102. doi: 10.1186/s40478-022-01401-z. Acta Neuropathol Commun. 2022. PMID: 35836290 Free PMC article.
Genomic profiling of pediatric hematologic malignancies and diagnosis of cancer predisposition syndromes: tumoronly versus paired tumor-normal sequencing.
Newman H, Clark ME, Wong D, Wu J, Brodeur GM, Hunger SP, Tasian SK, Olson T, Warren JT, Teachey DT, Bona K, Schubert J, Golenberg N, Patel M, Denenberg EH, Fanning EA, Chen J, Luke T, Charles S, Gallo D, Cao K, Fu W, Fan Z, Surrey LF, Wertheim G, Luo M, MacFarland SP, Li MM, Zhong Y. Newman H, et al. Among authors: schubert j. Haematologica. 2024 Sep 1;109(9):3024-3030. doi: 10.3324/haematol.2023.284855. Haematologica. 2024. PMID: 38385299 Free PMC article. No abstract available.
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: schubert j. J Natl Cancer Inst. 2024 Aug 1;116(8):1356-1365. doi: 10.1093/jnci/djae102. J Natl Cancer Inst. 2024. PMID: 38702830
The genetic architecture of pediatric cardiomyopathy.
Ware SM, Bhatnagar S, Dexheimer PJ, Wilkinson JD, Sridhar A, Fan X, Shen Y, Tariq M, Schubert JA, Colan SD, Shi L, Canter CE, Hsu DT, Bansal N, Webber SA, Everitt MD, Kantor PF, Rossano JW, Pahl E, Rusconi P, Lee TM, Towbin JA, Lal AK, Chung WK, Miller EM, Aronow B, Martin LJ, Lipshultz SE; Pediatric Cardiomyopathy Registry Study Group. Ware SM, et al. Among authors: schubert ja. Am J Hum Genet. 2022 Feb 3;109(2):282-298. doi: 10.1016/j.ajhg.2021.12.006. Epub 2022 Jan 12. Am J Hum Genet. 2022. PMID: 35026164 Free PMC article.
1,279 results