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Author Details

Jianling Ji
Children's Hospital Los Angeles
2009
35
12
PMIDPaper TitleJournal TitlePublished Year
37406452Uterine Leiomyosarcoma With Osteoclast-like Giant Cells: Report of 2 Cases and Review of Literature.Int J Gynecol Pathol2024
38008288An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors.J Mol Diagn2024
37992967Comparative Clinicopathologic and Genomic Analysis of Hepatocellular Neoplasm, Not Otherwise Specified, and Hepatoblastoma.Mod Pathol2024
37981088Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory.J Mol Diagn2024
36373660CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase.Nucleic Acids Res2023
35604410Multi-institutional study of the frequency, genomic landscape, and outcome of IDH-mutant glioma in pediatrics.Neuro Oncol2023
37461402Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors.Neurooncol Adv2023
37188781Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.Nat Med2023
36575358A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype.Calcif Tissue Int2023
36798979Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?J Clin Sleep Med2023
35245931Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping.Blood Adv2022
35624339A community approach to the cancer-variant-interpretation bottleneck.Nat Cancer2022
35074075A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.J Mol Diagn2022
33439110Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With <i>STAT1</i> Gain-of-Function Mutation: Detailed Clinicopathological Findings.Pediatr Dev Pathol2021
33571894A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.Cancer Genet2021
34429303Mechanisms of targeted therapy resistance in a pediatric glioma driven by <i>ETV6-NTRK3</i> fusion.Cold Spring Harb Mol Case Stud2021
33960568IDH-mutant brainstem gliomas in adolescent and young adult patients: Report of three cases and review of the literature.Brain Pathol2021
34283395Clinical Exome Reanalysis: Current Practice and Beyond.Mol Diagn Ther2021
33948563Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.Neurooncol Adv2021
33221597Custom Pediatric Oncology Next-Generation Sequencing Panel Identifies Somatic Mosaicism in Archival Tissue and Enhances Targeted Clinical Care.Pediatr Neurol2021
30755392A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.Cold Spring Harb Mol Case Stud2019
31686034Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.Nat Med2019
31179415Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution.JCO Precis Oncol2019
30803559Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.Cancer Genet2019
30770994Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl.Childs Nerv Syst2019
29797659Myeloid lineage switch following chimeric antigen receptor T-cell therapy in a patient with TCF3-ZNF384 fusion-positive B-lymphoblastic leukemia.Pediatr Blood Cancer2018
29928177Interstitial Chromosome 3p13p14 Deletions: An Update and Review.Mol Syndromol2018
30138724OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.J Mol Diagn2018
29460469Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.Am J Med Genet A2018
29025601A neoplasm with FIP1L1-PDGFRA fusion presenting as pediatric T-cell lymphoblastic leukemia/lymphoma without eosinophilia.Cancer Genet2017
28371217Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.Am J Med Genet A2017
25944381DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Eur J Hum Genet2015
24646765Acute myeloid leukemia with t(7;21)(p22;q22) and 5q deletion: a case report and literature review.Exp Hematol Oncol2014
24657733Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.Eur J Med Genet2014
19574885Overlapping features between dedifferentiated liposarcoma and undifferentiated high-grade pleomorphic sarcoma.Am J Surg Pathol2009
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Collaborators

Gordana Raca
Children's Hospital Los Angeles
Co-authored papers 11
Jaclyn A Biegel
Co-authored papers 10
Moiz Bootwalla
Co-authored papers 7
Xiaowu Gai
Co-authored papers 7
Jennifer A Cotter
Children's Hospital Los Angeles
Co-authored papers 5
Matthew J Oberley
Co-authored papers 4
Dennis T Maglinte
Co-authored papers 4
Ashley Margol
Children's Hospital Los Angeles
Co-authored papers 4
Xinjie Xu
Mayo Clinic
Co-authored papers 3
Keith A Johnson
Brigham and Women's Hospital, Massachusetts General Hospital, Harvard Medical School
Co-authored papers 2
Ronak Y Patel
Baylor College of Medicine
Co-authored papers 2
Steven J M Jones
University of British Columbia
Co-authored papers 2
Alexander R Judkins
Co-authored papers 2
Jake Lever
University of Glasgow
Co-authored papers 2
Shahil P Pema
McDonnell Genome Institute, Washington University in St Louis School of Medicine
Co-authored papers 2
Obi L Griffith
Washington University
Co-authored papers 2
Jason Walker
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 2
Benjamin J Ainscough
McDonnell Genome Institute, Washington University in St Louis School of Medicine
Co-authored papers 2
Debra Hawes
Co-authored papers 2
Malachi Griffith
Washington University
Co-authored papers 2
Damian T Rieke
German Cancer Consortium and German Cancer Research Center
Co-authored papers 2
Arpad M Danos
McDonnell Genome Institute, Washington University in St Louis School of Medicine
Co-authored papers 2
Jinghui Zhang
Changhai Hospital, Second Military Medical University
Co-authored papers 2
Lynn M Schriml
University of Maryland School of Medicine, Institute for Genome Sciences
Co-authored papers 2
Nicholas C Spies
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 2
Lynzey Kujan
McDonnell Genome Institute, Washington University in St Louis School of Medicine
Co-authored papers 2
Matthew D Wood
Oregon Health & Science University
Co-authored papers 2
Erica K Barnell
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 2
Katie M Campbell
McDonnell Genome Institute, Washington University School of Medicine
Co-authored papers 2
Peter Horak
German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT)
Co-authored papers 2
Release 1.2