Publications by authors named "Xiaowu Gai"

68 Publications

Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country.

Front Microbiol 2020 3;11:573430. Epub 2020 Sep 3.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, United States.

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September 2020

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Clin Lab Med 2020 06;40(2):149-161

Keck School of Medicine of USC, Center for Personalized Medicine, Children's Hospital Los Angeles, Suite 300, 2100 West 3rd Street, Los Angeles, CA 90057, USA. Electronic address:

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June 2020

Variability in retinoblastoma genome stability is driven by age and not heritability.

Genes Chromosomes Cancer 2020 Oct 9;59(10):584-590. Epub 2020 Jun 9.

The Vision Center at Children's Hospital Los Angeles, Los Angeles, California, USA.

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October 2020

Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods.

Mitochondrion 2020 03 20;51:97-103. Epub 2020 Jan 20.

Department of Pathology Children's Hospital Los Angeles and Keck School of Medicine, University of Southern California, Los Angeles, CA, United States.

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March 2020

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 1;5(2). Epub 2019 Apr 1.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.

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April 2019

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.

Cancer Res 2019 04 1;79(7):1318-1330. Epub 2019 Feb 1.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

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April 2019

Identification of a novel pathogenic missense mutation in using whole exome sequencing: a case report.

Br J Ophthalmol 2019 06 20;103(6):761-767. Epub 2018 Jul 20.

Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA

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June 2019

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.

Hum Mutat 2018 06 6;39(6):806-810. Epub 2018 Apr 6.

Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

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June 2018

Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.

BMC Med Genomics 2017 10 6;10(1):57. Epub 2017 Oct 6.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA.

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October 2017

On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.

Ophthalmic Genet 2018 Jan-Feb;39(1):144-146. Epub 2017 Aug 14.

a Center for Advanced Retinal and Ocular Therapeutics (CAROT) and F.M. Kirby Center for Molecular Ophthalmology , Scheie Eye Institute, University of Pennsylvania , Philadelphia , Pennsylvania , USA.

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March 2018

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

Am J Med Genet A 2017 May 28;173(5):1390-1395. Epub 2017 Mar 28.

Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Los Angeles, California.

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May 2017

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genet Med 2017 06 13;19(6):643-651. Epub 2016 Oct 13.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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June 2017

genetic variants and sarcoidosis-associated uveitis.

Am J Ophthalmol Case Rep 2016 Oct 1;3:39-42. Epub 2016 Jun 1.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

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October 2016

From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a001065

Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.

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May 2016