Xiaowu Gai

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression.

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

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

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

Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis.

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy.

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

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

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

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

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

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

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

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Utility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy.

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

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

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

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.

Simultaneous identification of clinically relevant mutations and copy number alterations in aqueous humor of retinoblastoma eyes.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

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

Early pandemic molecular diversity of SARS-CoV-2 in children.

Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity.

Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy.

Utility of viral whole-genome sequencing for institutional infection surveillance during the coronavirus disease 2019 (COVID-19) pandemic.

Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications.

Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series.

High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19.

Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.

The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors.