Author details

Full Name

Xiaowu Gai

Affiliation

ORCID

Career Start Year

1998

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38008288	An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors.	J Mol Diagn	2024
36805676	Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors.	NPJ Precis Oncol	2023
37461402	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
37188781	Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.	Nat Med	2023
35217561	m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.	Cold Spring Harbor molecular case studies	2022
35571988	Mitochondrial 1555 G>A variant as a potential risk factor for childhood glioblastoma.	Neuro-Oncology Advances	2022
35682905	Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma.	Int J Mol Sci	2022
36115539	Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma.	Mitochondrion	2022
33866984	Utility of viral whole-genome sequencing for institutional infection surveillance during the coronavirus disease 2019 (COVID-19) pandemic.	Infect Control Hosp Epidemiol	2022
35317603	Implementation of a Streamlined SARS-CoV-2 Whole-Genome Sequencing Assay for Expeditious Surveillance during the Emergence of the Omicron Variant.	J Clin Microbiol	2022
34806958	Whose Data, Whose Risk? Omics Privacy Concerns Should be Defined by Individuals, not Researchers.	American Journal of Bioethics	2021
34125658	Rapidly emerging SARS-CoV-2 B.1.1.7 sub-lineage in the United States of America with spike protein D178H and membrane protein V70L mutations.	Emerg Microbes Infect	2021
33805776	Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.	Cancers (Basel)	2021
33688673	Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity.	medRxiv	2021
33896413	Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications.	Emerg Microbes Infect	2021
33619507	Early pandemic molecular diversity of SARS-CoV-2 in children.	medRxiv	2021
34337412	The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors.	Neurooncol Adv	2021
34316014	Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.	NPJ Precis Oncol	2021
33915337	Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series.	EBioMedicine	2021
34570090	Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis.	J Vis Exp	2021
33013809	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
37009563	Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy.		2020
32390242	Variability in retinoblastoma genome stability is driven by age and not heritability.	Genes Chromosomes Cancer	2020
32484858	AnthOligo: automating the design of oligonucleotides for capture/enrichment technologies.		2020
32439066	Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.	Clinics in Laboratory Medicine	2020
31972374	Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods.	Mitochondrion	2020
34095334	High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.	Open Forum Infect Dis	2020
32799607	Simultaneous identification of clinically relevant <i>RB1</i> mutations and copy number alterations in aqueous humor of retinoblastoma eyes.	Ophthalmic Genet	2020
32906214	Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.	Hum Mutat	2020
30709931	Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies.	Cancer Res	2019
31686034	Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.	Nat Med	2019
31580392	Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.	JAMA Ophthalmol	2019
30030392	Identification of a novel pathogenic missense mutation in using whole exome sequencing: a case report.	British Journal of Ophthalmology	2019
30755392	A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.	Cold Spring Harb Mol Case Stud	2019
29539190	MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.	Human Mutation	2018
28805479	On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness.	Ophthalmic Genetics	2018
29917077	USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.	Hum Mol Genet	2018
30138724	OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.	J Mol Diagn	2018
27735924	Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.	Genet Med	2017
28431867	Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.	Vision Res	2017
28985730	Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.	BMC Medical Genomics	2017
28371217	Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.	Am J Med Genet A	2017
28400392	Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.	Diabetes	2017
26423260	Incontinence medication response relates to the female urinary microbiota.	Int Urogynecol J	2016
29503906	<i>NOD2</i> genetic variants and sarcoidosis-associated uveitis.	Am J Ophthalmol Case Rep	2016
27393338	The next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity.	BMC Genomics	2016
27148591	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	2016
26882981	Acute and Chronic Ophthalmic Involvement in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis - A Comprehensive Review and Guide to Therapy. II. Ophthalmic Disease.	Ocul Surf	2016
26919060	MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.	Hum Mutat	2016
26950678	A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.	RNA Biology	2016