Keck School Faculty

Xiaowu Gai
Xiaowu Gai
Associate Professor of Clinical Pathology
CHLA 4650 W. Sunset Blvd. Off Campus Los Angeles

Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes Ophthalmic Genet. 2020 Aug 17; 1-7. . View in PubMed

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease Clin Lab Med. 2020 Jun; 40(2):149-161. . View in PubMed

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; 51:97-103. . View in PubMed

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report Nat Med. 2019 11; 25(11):1680-1683. . View in PubMed

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; 5(2). . View in PubMed

Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies Cancer Res. 2019 04 01; 79(7):1318-1330. . View in PubMed

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies J Mol Diagn. 2018 11; 20(6):765-776. . View in PubMed

MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion Hum Mutat. 2018 06; 39(6):806-810. . View in PubMed

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis Hum Mol Genet. 2018 10 01; 27(19):3305-3312. . View in PubMed

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma Am J Med Genet A. 2017 May; 173(5):1390-1395. . View in PubMed

Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy Vision Res. 2017 10; 139:168-176. . View in PubMed

Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis Diabetes. 2017 07; 66(7):1950-1956. . View in PubMed

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations Genet Med. 2017 06; 19(6):643-651. . View in PubMed

Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory BMC Med Genomics. 2017 10 06; 10(1):57. . View in PubMed

NOD2 genetic variants and sarcoidosis-associated uveitis Am J Ophthalmol Case Rep. 2016 Oct; 3:39-42. . View in PubMed

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. . View in PubMed

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Hum Mutat. 2016 06; 37(6):540-548. . View in PubMed

A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression RNA Biol. 2016 05 03; 13(5):477-85. . View in PubMed

Innovative genomic collaboration using the GENESIS (GEMapp) platform. Hum Mutat. 2015 Oct; 36(10):950-6. . View in PubMed

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier Bioinformatics. 2015 Apr 15; 31(8):1310-2. . View in PubMed

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing Genet Med. 2015 Apr; 17(4):253-261. . View in PubMed

Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities Mol Genet Metab. 2015 Mar; 114(3):388-96. . View in PubMed

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome Hum Mol Genet. 2015 Jan 01; 24(1):230-42. . View in PubMed

Targeted exon sequencing in Usher syndrome type I Invest Ophthalmol Vis Sci. 2014 Dec 02; 55(12):8488-96. . View in PubMed

Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans J Mol Biol. 2014 May 29; 426(11):2199-216. . View in PubMed

Effect of low intensity pulsed ultrasound on repairing the periodontal bone of Beagle canines Asian Pac J Trop Med. 2014 Apr; 7(4):325-8. . View in PubMed

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate JIMD Rep. 2014; 14:119. . View in PubMed

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate JIMD Rep. 2014; 14:77-85. . View in PubMed

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes Br J Haematol. 2014 Jan; 164(1):73-82. . View in PubMed

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders J Med Genet. 2013 Oct; 50(10):704-14. . View in PubMed

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy Am J Hum Genet. 2013 Sep 05; 93(3):482-95. . View in PubMed

Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome Discov Med. 2012 Dec; 14(79):389-99. . View in PubMed

NMNAT1 mutations cause Leber congenital amaurosis Nat Genet. 2012 Sep; 44(9):1040-5. . View in PubMed

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies Congenit Heart Dis. 2011 Nov-Dec; 6(6):592-602. . View in PubMed

Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v20 call rate and accuracy. BMC Bioinformatics. 2011 Oct 19; 12:402. . View in PubMed

Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies Cancer Genet. 2011 Jan; 204(1):26-38. . View in PubMed

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q373. Am J Med Genet A. 2010 Apr; 152A(4):886-95. . View in PubMed

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications Genome Res. 2009 Sep; 19(9):1682-90. . View in PubMed

Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene Brain Pathol. 2009 Jul; 19(3):449-58. . View in PubMed

A 31-Mb microdeletion of 3p21. 31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. Eur J Med Genet. 2009 Jul-Aug; 52(4):265-8. . View in PubMed

Genomic analysis using high-density single nucleotide polymorphism-based oligonucleotide arrays and multiplex ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors Clin Cancer Res. 2009 Mar 15; 15(6):1923-30. . View in PubMed

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation Hum Mutat. 2009 Mar; 30(3):371-8. . View in PubMed

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies PLoS One. 2008; 3(10):e3583. . View in PubMed

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