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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: cao k. Haematologica. 2024 Sep 1;109(9):3024-3030. doi: 10.3324/haematol.2023.284855. Haematologica. 2024. PMID: 38385299 Free PMC article. No abstract available.
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: cao k. 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: cao k. 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.
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: cao k. 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: cao k. 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.
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: cao k. Genome Med. 2019 May 28;11(1):32. doi: 10.1186/s13073-019-0644-8. Genome Med. 2019. PMID: 31133068 Free PMC article.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, Krantz ID, Conlin LK, Luo M. Guan Q, et al. Among authors: cao k. Genet Med. 2018 Dec;20(12):1600-1608. doi: 10.1038/gim.2018.48. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595809 Free article.
3,079 results