Xiaowu Gai - Center for Personalized Medicine - Director of Bioinformatics

Xiaowu Gai

Center for Personalized Medicine

Director of Bioinformatics

Los Angeles, CA | United States

Main Specialties: Biology, Pathology-Anatomic & Clinical

ORCID logohttps://orcid.org/0000-0001-8679-9703

Xiaowu Gai - Center for Personalized Medicine - Director of Bioinformatics

Xiaowu Gai

Introduction

Primary Affiliation: Center for Personalized Medicine - Los Angeles, CA , United States

Specialties:

Publications

58Publications

2616Reads

63Profile Views

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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http://dx.doi.org/10.1136/bjophthalmol-2017-311405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582727PMC
June 2019
3 Reads
2.976 Impact Factor

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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http://dx.doi.org/10.1101/mcs.a003756DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549575PMC
April 2019
6 Reads

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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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-18-2220DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445760PMC
April 2019
38 Reads
9.329 Impact Factor

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

J Mol Diagn 2018 11 20;20(6):765-776. Epub 2018 Aug 20.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, Keck School of Medicine of USC, Los Angeles, California.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578183010
Publisher Site
http://dx.doi.org/10.1016/j.jmoldx.2018.06.009DOI Listing
November 2018
61 Reads
4.851 Impact Factor

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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http://dx.doi.org/10.1002/humu.23422DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992054PMC
June 2018
20 Reads
5.144 Impact Factor

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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http://dx.doi.org/10.1080/13816810.2017.1354384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6108083PMC
March 2018
50 Reads
1.233 Impact Factor

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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http://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12
Publisher Site
http://dx.doi.org/10.1186/s12920-017-0297-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5639583PMC
October 2017
12 Reads
2.873 Impact Factor

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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http://dx.doi.org/10.1038/gim.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944PMC
June 2017
25 Reads
7.329 Impact Factor

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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http://doi.wiley.com/10.1002/ajmg.a.38184
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.38184DOI Listing
May 2017
13 Reads
2.159 Impact Factor

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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http://dx.doi.org/10.1016/j.ajoc.2016.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757392PMC
October 2016
5 Reads

Incontinence medication response relates to the female urinary microbiota.

Int Urogynecol J 2016 May 30;27(5):723-33. Epub 2015 Sep 30.

Departments of Microbiology and Immunology, Stritch School of Medicine, Loyola University Chicago, Maywood, IL, USA.

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http://dx.doi.org/10.1007/s00192-015-2847-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119460PMC
May 2016
36 Reads
1.961 Impact Factor

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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http://dx.doi.org/10.1101/mcs.a001065DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853518PMC
May 2016
1 Read

Characterization of cells from patient-derived fibrovascular membranes in proliferative diabetic retinopathy.

Mol Vis 2015 12;21:673-87. Epub 2015 Jun 12.

Schepens Eye Research Institute/Massachusetts Eye and Ear, Department of Ophthalmology, Harvard Medical School, Boston, MA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4462955PMC
April 2016
51 Reads
1.986 Impact Factor

Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

Gastroenterology 2015 Dec 5;149(7):1872-1883.e9. Epub 2015 Sep 5.

Cancer Biology Program, Fox Chase Cancer Center, Philadelphia, Pennsylvania; Medicine, Fox Chase Cancer Center, Philadelphia, Pennsylvania. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2015.08.052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4663158PMC
December 2015
59 Reads
16.716 Impact Factor

Innovative genomic collaboration using the GENESIS (GEM.app) platform.

Hum Mutat 2015 Oct 12;36(10):950-6. Epub 2015 Aug 12.

Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.

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http://dx.doi.org/10.1002/humu.22836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4682547PMC
October 2015
20 Reads
5.144 Impact Factor

The female urinary microbiome in urgency urinary incontinence.

Am J Obstet Gynecol 2015 Sep 23;213(3):347.e1-11. Epub 2015 Jul 23.

Departments of Obstetrics and Gynecology and Urology, Stritch School of Medicine, Loyola University Chicago, Maywood, IL. Electronic address:

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http://dx.doi.org/10.1016/j.ajog.2015.07.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4556587PMC
September 2015
37 Reads
4.704 Impact Factor

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.

Bioinformatics 2015 Apr 12;31(8):1310-2. Epub 2014 Dec 12.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA, Center for Biomedical Informaticsand Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA, Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA and Department of Forensic Molecular Biology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
Publisher Site
http://dx.doi.org/10.1093/bioinformatics/btu825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393525PMC
April 2015
30 Reads
4.981 Impact Factor

Targeted exon sequencing in Usher syndrome type I.

Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. Epub 2014 Dec 2.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1167/iovs.14-15169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280089PMC
December 2014
53 Reads
3.404 Impact Factor

Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans.

J Mol Biol 2014 May 14;426(11):2199-216. Epub 2014 Feb 14.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jmb.2014.02.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067970PMC
May 2014
21 Reads
4.333 Impact Factor

Urine is not sterile: use of enhanced urine culture techniques to detect resident bacterial flora in the adult female bladder.

J Clin Microbiol 2014 Mar 26;52(3):871-6. Epub 2013 Dec 26.

Infectious Disease and Immunology Institute, Stritch School of Medicine Loyola University Chicago, Maywood, Illinois, USA.

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http://dx.doi.org/10.1128/JCM.02876-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957746PMC
March 2014
83 Reads
3.993 Impact Factor

Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes.

Br J Haematol 2014 Jan 14;164(1):73-82. Epub 2013 Oct 14.

Division of Hematology, Department of Medicine, Hospital of the University of Pennsylvania, Philadelphia, PA, USA; Comprehensive Bone Marrow Failure Center, Division of Hematology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/bjh.12603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3986350PMC
January 2014
33 Reads
4.711 Impact Factor

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

Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.discoverymedicine.com/Marni-J-Falk/files/2013/01/
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923327PMC
December 2012
8 Reads
3.503 Impact Factor

Re-sequencing of ankyrin 3 exon 48 and case-control association analysis of rare variants in bipolar disorder type I.

Bipolar Disord 2012 Dec 11;14(8):809-21. Epub 2012 Sep 11.

Department of Psychiatry, Center for Neurobiology and Behavior, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1111/bdi.12002DOI Listing
December 2012
16 Reads
4.965 Impact Factor

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.

Congenit Heart Dis 2011 Nov-Dec;6(6):592-602. Epub 2011 Oct 20.

Divisions of Cardiology Human Genetics Oncology Center for Applied Genomics Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1111/j.1747-0803.2011.00582.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4575121PMC
March 2012
7 Reads
1.202 Impact Factor

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

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.cancergencyto.2010.10.007DOI Listing
January 2011
11 Reads
2.417 Impact Factor

Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3.

Am J Med Genet A 2010 Apr;152A(4):886-95

Division of Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/ajmg.a.33332DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2914625PMC
April 2010
9 Reads
2.159 Impact Factor

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics.

BMC Bioinformatics 2010 Feb 4;11:74. Epub 2010 Feb 4.

Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/1471-2105-11-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827374PMC
February 2010
34 Reads
2.576 Impact Factor

A 3.1-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. Epub 2008 Dec 13.

Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120800165
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2008.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391973PMC
November 2009
55 Reads
1.486 Impact Factor

SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation.

Hum Mutat 2009 Mar;30(3):371-8

Division of Gastroenterology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/humu.20863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2650004PMC
March 2009
10 Reads
5.144 Impact Factor

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.

PLoS One 2008 31;3(10):e3583. Epub 2008 Oct 31.

The Institute for Translational Medicine and Therapeutics, School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvannia, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0003583PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2571995PMC
February 2009
161 Reads
3.234 Impact Factor

Sequence mining and transcript profiling to explore cyst nematode parasitism.

BMC Genomics 2009 Jan 30;10:58. Epub 2009 Jan 30.

Interdepartmental Genetics Program, Iowa State University, Ames, IA 50011, USA.

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http://dx.doi.org/10.1186/1471-2164-10-58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640417PMC
January 2009
40 Reads
3.986 Impact Factor

A GATA-1-regulated microRNA locus essential for erythropoiesis.

Proc Natl Acad Sci U S A 2008 Mar 26;105(9):3333-8. Epub 2008 Feb 26.

Division of Hematology, Children's Hospital of Philadelphia and The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1073/pnas.0712312105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265118PMC
March 2008
43 Reads
9.809 Impact Factor

Ty5 gag mutations increase retrotransposition and suggest a role for hydrogen bonding in the function of the nucleocapsid zinc finger.

J Virol 2002 Apr;76(7):3240-7

Department of Zoology and Genetics, Iowa State University, Ames, Iowa 50011, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC136051PMC
http://dx.doi.org/10.1128/jvi.76.7.3240-3247.2002DOI Listing
April 2002
6 Reads
4.439 Impact Factor

Top co-authors

Marni J Falk
Marni J Falk

The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine

18
Hakon Hakonarson
Hakon Hakonarson

Center for Applied Genomics

14
Emily Place
Emily Place

Ocular Genomics Institute

10
Lishuang Shen
Lishuang Shen

Harvard Medical School

10
Eric A Pierce
Eric A Pierce

Ocular Genomics Institute

9
Tamim H Shaikh
Tamim H Shaikh

The Children's Hospital of Philadelphia

9
Jaclyn A Biegel
Jaclyn A Biegel

The Children's Hospital of Philadelphia

9
Mark Consugar
Mark Consugar

Ocular Genomics Institute

9
Douglas C Wallace
Douglas C Wallace

University of California

6