Xiaowu Gai

Center for Personalized Medicine, Children’s Hospital Los Angeles

Affiliated withChildren’s Hospital Los Angeles Keck School of Medicine of USC

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 36	2021

Other Publications

Article	Year
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Human mutation\| PubMed ID: 26919060	2016
A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. RNA biology\| PubMed ID: 26950678	2016
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\| PubMed ID: 27148591	2016
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\| PubMed ID: 27735924	2017
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. American journal of medical genetics. Part A\| PubMed ID: 28371217	2017
Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis. Diabetes\| PubMed ID: 28400392	2017
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy. Vision research\| PubMed ID: 28431867	2017
On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness. Ophthalmic genetics\| PubMed ID: 28805479	2018
Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory. BMC medical genomics\| PubMed ID: 28985730	2017
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. Human mutation\| PubMed ID: 29539190	2018
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Human molecular genetics\| PubMed ID: 29917077	2018
Identification of a novel pathogenic missense mutation in using whole exome sequencing: a case report. The British journal of ophthalmology\| PubMed ID: 30030392	2019
OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. The Journal of molecular diagnostics : JMD\| PubMed ID: 30138724	2018
Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Cancer research\| PubMed ID: 30709931	2019
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. Cold Spring Harbor molecular case studies\| PubMed ID: 30755392	2019
Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. JAMA ophthalmology\| PubMed ID: 31580392	2019
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. Nature medicine\| PubMed ID: 31686034	2019
Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods. Mitochondrion\| PubMed ID: 31972374	2020
Variability in retinoblastoma genome stability is driven by age and not heritability. Genes, chromosomes & cancer\| PubMed ID: 32390242
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Clinics in laboratory medicine\| PubMed ID: 32439066	2020
Simultaneous identification of clinically relevant mutations and copy number alterations in aqueous humor of retinoblastoma eyes. Ophthalmic genetics\| PubMed ID: 32799607
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human mutation\| PubMed ID: 32906214	2020
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\| PubMed ID: 33013809	2020
Early pandemic molecular diversity of SARS-CoV-2 in children. medRxiv : the preprint server for health sciences\| PubMed ID: 33619507	2021
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\| PubMed ID: 33688673	2021
Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. Cancers\| PubMed ID: 33805776	2021
Utility of viral whole-genome sequencing for institutional infection surveillance during the coronavirus disease 2019 (COVID-19) pandemic. Infection control and hospital epidemiology\| PubMed ID: 33866984	2021
Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications. Emerging microbes & infections\| PubMed ID: 33896413	2021
Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series. EBioMedicine\| PubMed ID: 33915337	2021
High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19. Open forum infectious diseases\| PubMed ID: 34095334	2021
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy. NPJ precision oncology\| PubMed ID: 34316014	2021
The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors. Neuro-oncology advances\| PubMed ID: 34337412	2021