Xiaowu Gai Center for Personalized Medicine, Department of Pathology and Laboratory Medicine Children’s Hospital Los Angeles Biography Publications Institution JoVE Articles Xiaowu Gai has not added a biography. If you are Xiaowu Gai and would like to personalize this page please email our Author Liaison for assistance. Publications The Spectrum of Mitochondrial DNA (mtDNA) Mutations in Pediatric CNS Tumors Neuro-oncology Advances. Jan-Dec, 2021 | Pubmed ID: 34337412 Inter-eye Genomic Heterogeneity in Bilateral Retinoblastoma Via Aqueous Humor Liquid Biopsy NPJ Precision Oncology. Jul, 2021 | Pubmed ID: 34316014 High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19 Open Forum Infectious Diseases. Jun, 2021 | Pubmed ID: 34095334 Increased Viral Variants in Children and Young Adults with Impaired Humoral Immunity and Persistent SARS-CoV-2 Infection: A Consecutive Case Series EBioMedicine. May, 2021 | Pubmed ID: 33915337 Emerging Variants of Concern in SARS-CoV-2 Membrane Protein: a Highly Conserved Target with Potential Pathological and Therapeutic Implications Emerging Microbes & Infections. Dec, 2021 | Pubmed ID: 33896413 Utility of Viral Whole-genome Sequencing for Institutional Infection Surveillance During the Coronavirus Disease 2019 (COVID-19) Pandemic Infection Control and Hospital Epidemiology. Apr, 2021 | Pubmed ID: 33866984 Establishing the Clinical Utility of CtDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy Cancers. Mar, 2021 | Pubmed ID: 33805776 Persistent SARS-CoV-2 Infection and Increasing Viral Variants in Children and Young Adults with Impaired Humoral Immunity MedRxiv : the Preprint Server for Health Sciences. Mar, 2021 | Pubmed ID: 33688673 Early Pandemic Molecular Diversity of SARS-CoV-2 in Children MedRxiv : the Preprint Server for Health Sciences. Feb, 2021 | Pubmed ID: 33619507 Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country Frontiers in Microbiology. 2020 | Pubmed ID: 33013809 Specifications of the ACMG/AMP Standards and Guidelines for Mitochondrial DNA Variant Interpretation Human Mutation. 12, 2020 | Pubmed ID: 32906214 Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease Clinics in Laboratory Medicine. 06, 2020 | Pubmed ID: 32439066 Detection of Mitochondrial DNA Variants at Low Level Heteroplasmy in Pediatric CNS and Extra-CNS Solid Tumors with Three Different Enrichment Methods Mitochondrion. 03, 2020 | Pubmed ID: 31972374 Resistance to Autosomal Dominant Alzheimer's Disease in an APOE3 Christchurch Homozygote: a Case Report Nature Medicine. 11, 2019 | Pubmed ID: 31686034 Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy JAMA Ophthalmology. 12, 2019 | Pubmed ID: 31580392 A Semiautomated Whole-exome Sequencing Workflow Leads to Increased Diagnostic Yield and Identification of Novel Candidate Variants Cold Spring Harbor Molecular Case Studies. 04, 2019 | Pubmed ID: 30755392 Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies Cancer Research. 04, 2019 | Pubmed ID: 30709931 Identification of a Novel Pathogenic Missense Mutation in Using Whole Exome Sequencing: a Case Report The British Journal of Ophthalmology. 06, 2019 | Pubmed ID: 30030392 OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies The Journal of Molecular Diagnostics : JMD. 11, 2018 | Pubmed ID: 30138724 USMG5 Ashkenazi Jewish Founder Mutation Impairs Mitochondrial Complex V Dimerization and ATP Synthesis Human Molecular Genetics. 10, 2018 | Pubmed ID: 29917077 MSeqDR MvTool: A Mitochondrial DNA Web and API Resource for Comprehensive Variant Annotation, Universal Nomenclature Collation, and Reference Genome Conversion Human Mutation. 06, 2018 | Pubmed ID: 29539190 On Variants and Disease-causing Mutations: Case Studies of a SEMA4A Variant Identified in Inherited Blindness Ophthalmic Genetics. Jan-Feb, 2018 | Pubmed ID: 28805479 Clinical Utility of the Low-density Infinium QC Genotyping Array in a Genomics-based Diagnostics Laboratory BMC Medical Genomics. 10, 2017 | Pubmed ID: 28985730 Whole Exome Sequencing Identification of Novel Candidate Genes in Patients with Proliferative Diabetic Retinopathy Vision Research. 10, 2017 | Pubmed ID: 28431867 Identification of RUNX1 As a Mediator of Aberrant Retinal Angiogenesis Diabetes. 07, 2017 | Pubmed ID: 28400392 Inherited Germline ATRX Mutation in Two Brothers with ATR-X Syndrome and Osteosarcoma American Journal of Medical Genetics. Part A. May, 2017 | Pubmed ID: 28371217 Copy-number Variation is an Important Contributor to the Genetic Causality of Inherited Retinal Degenerations Genetics in Medicine : Official Journal of the American College of Medical Genetics. 06, 2017 | Pubmed ID: 27735924 From Case Studies to Community Knowledge Base: MSeqDR Provides a Platform for the Curation and Genomic Analysis of Mitochondrial Diseases Cold Spring Harbor Molecular Case Studies. May, 2016 | Pubmed ID: 27148591 A Novel HSD17B10 Mutation Impairing the Activities of the Mitochondrial RNase P Complex Causes X-linked Intractable Epilepsy and Neurodevelopmental Regression RNA Biology. May, 2016 | Pubmed ID: 26950678 MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Human Mutation. 06, 2016 | Pubmed ID: 26919060 Simultaneous Identification of Clinically Relevant Mutations and Copy Number Alterations in Aqueous Humor of Retinoblastoma Eyes Ophthalmic Genetics. | Pubmed ID: 32799607 Variability in Retinoblastoma Genome Stability is Driven by Age and Not Heritability Genes, Chromosomes & Cancer. | Pubmed ID: 32390242 Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis Mary E. Kim1,2, Liya Xu1,2,3,11, Rishvanth K. Prabakar4, Lishuang Shen5, Chen-Ching Peng1,3, Peter Kuhn3,6,7,8, Xiaowu Gai5,9, James Hicks3,6,10, Jesse L. Berry1,2,6,11 1The Vision Center, Children’s Hospital Los Angeles, 2USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, 3Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, 4Department of Molecular and Computational Biology, University of Southern California, 5Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, 6Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, 7Department of Aerospace and Mechanical Engineering, Viterbi School of Engineering, University of Southern California, 8Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, 9Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, 10Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, 11The Saban Research Institute, Children’s Hospital Los Angeles JoVE 62939 Cancer Research
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis Mary E. Kim1,2, Liya Xu1,2,3,11, Rishvanth K. Prabakar4, Lishuang Shen5, Chen-Ching Peng1,3, Peter Kuhn3,6,7,8, Xiaowu Gai5,9, James Hicks3,6,10, Jesse L. Berry1,2,6,11 1The Vision Center, Children’s Hospital Los Angeles, 2USC Roski Eye Institute, Keck School of Medicine of the University of Southern California, 3Department of Biological Sciences, Dornsife College of Letters, Arts, and Sciences, University of Southern California, 4Department of Molecular and Computational Biology, University of Southern California, 5Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children’s Hospital Los Angeles, 6Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, 7Department of Aerospace and Mechanical Engineering, Viterbi School of Engineering, University of Southern California, 8Department of Biomedical Engineering, Viterbi School of Engineering, University of Southern California, 9Department of Pathology and Laboratory Medicine, Keck School of Medicine of USC, 10Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, 11The Saban Research Institute, Children’s Hospital Los Angeles JoVE 62939 Cancer Research