Ji J - Search Results

1

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA. Hiemenz MC, et al. Among authors: ji j. J Mol Diagn. 2018 Nov;20(6):765-776. doi: 10.1016/j.jmoldx.2018.06.009. Epub 2018 Aug 20. J Mol Diagn. 2018. PMID: 30138724 Free article.

2

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F. Ji J, et al. Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6. Eur J Hum Genet. 2015. PMID: 25944381 Free PMC article.

3

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. Ji J, et al. Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371217 Free PMC article.

4

A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia.

Oberley MJ, Denton C, Ji J, Hiemenz M, Bhojwani D, Ostrow D, Wu S, Gaynon P, Raca G. Oberley MJ, et al. Among authors: ji j. Cancer Genet. 2017 Oct;216-217:91-99. doi: 10.1016/j.cancergen.2017.07.007. Epub 2017 Aug 3. Cancer Genet. 2017. PMID: 29025601 Free PMC article.

5

Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia.

Oberley MJ, Gaynon PS, Bhojwani D, Pulsipher MA, Gardner RA, Hiemenz MC, Ji J, Han J, O'Gorman MRG, Wayne AS, Raca G. Oberley MJ, et al. Among authors: ji j. Pediatr Blood Cancer. 2018 Sep;65(9):e27265. doi: 10.1002/pbc.27265. Epub 2018 May 24. Pediatr Blood Cancer. 2018. PMID: 29797659 Free PMC article.

6

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. Ji J, et al. Cold Spring Harb Mol Case Stud. 2019 Apr 1;5(2):a003756. doi: 10.1101/mcs.a003756. Print 2019 Apr. Cold Spring Harb Mol Case Stud. 2019. PMID: 30755392 Free PMC article.

7

Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.

Ji J, Navid F, Hiemenz MC, Kaneko M, Zhou S, Saitta SC, Biegel JA. Ji J, et al. Cancer Genet. 2019 Feb;231-232:62-66. doi: 10.1016/j.cancergen.2018.12.006. Epub 2018 Dec 30. Cancer Genet. 2019. PMID: 30803559 Free PMC article.

8

Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution.

Kaneva K, Yeo KK, Hawes D, Ji J, Biegel JA, Nelson MD, Bluml S, Krieger MD, Erdreich-Epstein A. Kaneva K, et al. Among authors: ji j. JCO Precis Oncol. 2019;3:PO.18.00138. doi: 10.1200/PO.18.00138. Epub 2019 Mar 27. JCO Precis Oncol. 2019. PMID: 31179415 Free PMC article. No abstract available.

9

Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.

Quindipan C, Cotter JA, Ji J, Mitchell WG, Moke DJ, Navid F, Thomas SM, VanHirtum-Das M, Wang L, Saitta SC, Biegel JA, Hiemenz MC. Quindipan C, et al. Among authors: ji j. Pediatr Neurol. 2021 Jan;114:55-59. doi: 10.1016/j.pediatrneurol.2020.09.015. Epub 2020 Oct 2. Pediatr Neurol. 2021. PMID: 33221597

10

A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.

Hiemenz MC, Oberley MJ, Doan A, Aye L, Ji J, Schmidt RJ, Biegel JA, Bhojwani D, Raca G. Hiemenz MC, et al. Among authors: ji j. Cancer Genet. 2021 Jun;254-255:25-33. doi: 10.1016/j.cancergen.2021.01.007. Epub 2021 Jan 21. Cancer Genet. 2021. PMID: 33571894

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