Keck School Faculty

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

A semi-automated whole exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants Cold Spring Harb Mol Case Stud. 2019 Feb 12. . View in PubMed

Landscape of germline and somatic mitochondrial DNA mutations in pediatric malignancies Cancer Res. 2019 Feb 01. . View in PubMed

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

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

OncoKidsSM: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies J Mol Diagn. 2018 Aug 20. . View in PubMed

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis Hum Mol Genet. 2018 Jun 18. . 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 Jun; 39(6):806-810. . View in PubMed

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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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