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Jianling Ji, MD

Associate Professor of Clinical Pathology

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Email jji@chla.usc.edu
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Publications

  • Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort NPJ Genom Med. 2025 Feb 21; 10(1):16. . View in PubMed
  • Lack of classical astroblastoma features in pediatric MN1::BEND2-fused brain tumors Brain Pathol. 2024 Sep 05; e13297. . View in PubMed
  • Microarray-Based DNA Methylation Profiling: Validation Considerations for Clinical Testing J Mol Diagn. 2024 Jun; 26(6):447-455. . View in PubMed
  • Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis J Mol Diagn. 2024 05; 26(5):337-348. . View in PubMed
  • Disease Evolution Monitored by Serial Cerebrospinal Fluid Liquid Biopsies in Two Cases of Recurrent Medulloblastoma Int J Mol Sci. 2024 Apr 30; 25(9). . View in PubMed
  • Clinical, pathologic, and genomic characteristics of two pediatric glioneuronal tumors with a CLIP2::MET fusion Acta Neuropathol Commun. 2024 04 22; 12(1):63. . View in PubMed
  • Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors J Mol Diagn. 2024 03; 26(3):159-167. . View in PubMed
  • Uterine Leiomyosarcoma With Osteoclast-like Giant Cells: Report of 2 Cases and Review of Literature Int J Gynecol Pathol. 2024 Mar 01; 43(2):182-189. . View in PubMed
  • An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors J Mol Diagn. 2024 02; 26(2):127-139. . View in PubMed
  • Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma Mod Pathol. 2024 Feb; 37(2):100385. . View in PubMed
  • Clinical Utility and Long-Term Feasibility of Exome and Genome Reanalysis: From the Perspectives of a Clinical Laboratory J Appl Lab Med. 2024 01 03; 9(1):162-167. . View in PubMed
  • Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory J Mol Diagn. 2024 01; 26(1):49-60. . View in PubMed
  • Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome? J Clin Sleep Med. 2023 06 01; 19(6):1161-1164.. View in PubMed
  • Resilience to autosomal dominant Alzheimer’s disease in a Reelin-COLBOS heterozygous man Nat Med. 2023 05; 29(5):1243-1252. . View in PubMed
  • A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype Calcif Tissue Int. 2023 04; 112(4):518-523. . View in PubMed
  • CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241. . View in PubMed
  • Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics Neuro Oncol. 2023 01 05; 25(1):199-210. . View in PubMed
  • Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors Neurooncol Adv. 2023 Jan-Dec; 5(1):vdad077. . View in PubMed
  • Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping Blood Adv. 2022 06 14; 6(11):3343-3346. . View in PubMed
  • A community approach to the cancer-variant-interpretation bottleneck Nat Cancer. 2022 05; 3(5):522-525. . View in PubMed
  • A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute J Mol Diagn. 2022 02; 24(2):177-188. . View in PubMed
  • Safety of intravenous thrombolysis in stroke of unknown time of onset: A systematic review and meta-analysis J Thromb Thrombolysis. 2021 Nov; 52(4):1173-1181. . View in PubMed
  • Mechanisms of targeted therapy resistance in a pediatric glioma driven by ETV6-NTRK3 fusion Cold Spring Harb Mol Case Stud. 2021 10; 7(5). . View in PubMed
  • Clinical Exome Reanalysis: Current Practice and Beyond Mol Diagn Ther. 2021 09; 25(5):529-536. . View in PubMed
  • IDH-mutant brainstem gliomas in adolescent and young adult patients: Report of three cases and review of the literature Brain Pathol. 2021 07; 31(4):e12959. . View in PubMed
  • A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies Cancer Genet. 2021 06; 254-255:25-33. . View in PubMed
  • Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings Pediatr Dev Pathol. 2021 Mar-Apr; 24(2):131-136. . View in PubMed
  • Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037. . View in PubMed
  • Reappraise role of No10 lymphadenectomy for proximal gastric cancer in the era of minimal invasive surgery during total gastrectomy: a pooled analysis of 4 prospective trial. Gastric Cancer. 2021 Jan; 24(1):245-257. . View in PubMed
  • Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care Pediatr Neurol. 2021 01; 114:55-59. . View in PubMed
  • Safety and feasibility of laparoscopic spleen-preserving No10 lymph node dissection for locally advanced upper third gastric cancer: a prospective, multicenter clinical trial. Surg Endosc. 2020 11; 34(11):5062-5073. . View in PubMed
  • Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management Genet Med. 2019 11; 21(11):2644-2649. . View in PubMed
  • Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report Nat Med. 2019 11; 25(11):1680-1683. . View in PubMed
  • Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl Childs Nerv Syst. 2019 09; 35(9):1609-1614. . View in PubMed
  • A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants Cold Spring Harb Mol Case Stud. 2019 04; 5(2). . View in PubMed
  • Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant Cancer Genet. 2019 02; 231-232:62-66. . View in PubMed
  • Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution JCO Precis Oncol. 2019; 3. . View in PubMed
  • OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies J Mol Diagn. 2018 11; 20(6):765-776. . View in PubMed
  • Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia Pediatr Blood Cancer. 2018 09; 65(9):e27265. . View in PubMed
  • Interstitial Chromosome 3p13p14 Deletions: An Update and Review Mol Syndromol. 2018 May; 9(3):122-133. . View in PubMed
  • Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome Am J Med Genet A. 2018 04; 176(4):862-876. . View in PubMed
  • A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia Cancer Genet. 2017 Oct; 216-217:91-99. . View in PubMed
  • Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma Am J Med Genet A. 2017 May; 173(5):1390-1395. . View in PubMed
  • DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies Eur J Hum Genet. 2015 Nov; 23(11):1473-81. . View in PubMed
  • Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects Eur J Med Genet. 2014 May-Jun; 57(6):267-8. . View in PubMed
  • Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review Exp Hematol Oncol. 2014; 3:8. . View in PubMed
  • Overlapping features between dedifferentiated liposarcoma and undifferentiated high-grade pleomorphic sarcoma Am J Surg Pathol. 2009 Nov; 33(11):1594-600. . View in PubMed
  • [Expression of vascular endothelial growth factor in patients with aplastic anemia and its significance] Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Apr; 14(2):285-8. . View in PubMed
  • Bone marrow angiogenesis in aplastic anemia Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2006 Feb; 14(1):79-82. . View in PubMed

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