Xiaowu Gai PhD
Director, Professor
Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Quantitative Health Services
Program: Quantitative Health Sciences
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Research Areas of Interest
Computational BiologyDNA Copy Number VariationsDNA Mutational AnalysisDNA, MitochondrialDatabases, GeneticExomeGenetic Predisposition to DiseaseGenetic VariationGenome, HumanGenome, MitochondrialGenomicsGenotypeHaplotypesHigh-Throughput Nucleotide SequencingMitochondriaMitochondrial DiseasesMutationOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideSequence Analysis, DNAPublications (95)
A method for measuring mitochondrial DNA copy number in pediatric populations. (Maggo S, North LY, Ozuna A, Ostrow D, Grajeda YR, Hakimjavadi H, Cotter JA, Judkins AR, Levitt P, Gai X) Front Pediatr 2024;12:1401737 PMID: 38938506 PMCID: PMC11208623 SCOPUS ID: 2-s2.0-85197660756 06/28/2024 Pediatric Chordoma: A Tale of Two Genomes. (O'Halloran K, Hakimjavadi H, Bootwalla M, Ostrow D, Kerawala R, Cotter JA, Yellapantula V, Kaneva K, Wadhwani NR, Treece A, Foreman NK, Alexandrescu S, Velazquez Vega J, Biegel JA, Gai X) Mol Cancer Res 2024 Aug 02;22(8):721-729 PMID: 38691518 PMCID: PMC11296893 SCOPUS ID: 2-s2.0-85200524365 05/01/2024 Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis. (Lee B, Nasanovsky L, Shen L, Maglinte DT, Pan Y, Gai X, Schmidt RJ, Raca G, Biegel JA, Roytman M, An P, Saunders CJ, Farrow EG, Shams S, Ji J) J Mol Diagn 2024 May;26(5):337-348 PMID: 38360210 SCOPUS ID: 2-s2.0-85188709845 02/16/2024 MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis. (Shen L, Falk MJ, Gai X) Curr Protoc 2024 Jan;4(1):e955 PMID: 38284225 PMCID: PMC11046528 SCOPUS ID: 2-s2.0-85183748196 01/29/2024 1 CitationAn Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. (Buckley J, Schmidt RJ, Ostrow D, Maglinte D, Bootwalla M, Ruble D, Govindarajan A, Ji J, Kovach AE, Orgel E, Raca G, Navid F, Mascarenhas L, Pawel B, Robison N, Gai X, Biegel JA) J Mol Diagn 2024 Feb;26(2):127-139 PMID: 38008288 SCOPUS ID: 2-s2.0-85183464949 11/27/2023 1 CitationLow-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors. (O'Halloran K, Yellapantula V, Christodoulou E, Ostrow D, Bootwalla M, Ji J, Cotter J, Chapman N, Chu J, Margol A, Krieger MD, Chiarelli PA, Gai X, Biegel JA) Neurooncol Adv 2023;5(1):vdad077 PMID: 37461402 PMCID: PMC10349915 SCOPUS ID: 2-s2.0-85167505357 07/18/2023 7 CitationsExpert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. (McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B, NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel, Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S) Ann Neurol 2023 Oct;94(4):696-712 PMID: 37255483 PMCID: PMC10763625 SCOPUS ID: 2-s2.0-85167712822 05/31/2023 14 CitationsResilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. (Lopera F, Marino C, Chandrahas AS, O'Hare M, Villalba-Moreno ND, Aguillon D, Baena A, Sanchez JS, Vila-Castelar C, Ramirez Gomez L, Chmielewska N, Oliveira GM, Littau JL, Hartmann K, Park K, Krasemann S, Glatzel M, Schoemaker D, Gonzalez-Buendia L, Delgado-Tirado S, Arevalo-Alquichire S, Saez-Torres KL, Amarnani D, Kim LA, Mazzarino RC, Gordon H, Bocanegra Y, Villegas A, Gai X, Bootwalla M, Ji J, Shen L, Kosik KS, Su Y, Chen Y, Schultz A, Sperling RA, Johnson K, Reiman EM, Sepulveda-Falla D, Arboleda-Velasquez JF, Quiroz YT) Nat Med 2023 May;29(5):1243-1252 PMID: 37188781 PMCID: PMC10202812 SCOPUS ID: 2-s2.0-85159273912 05/16/2023 58 CitationsCombined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors. (Christodoulou E, Yellapantula V, O'Halloran K, Xu L, Berry JL, Cotter JA, Zdanowicz A, Mascarenhas L, Amatruda JF, Ostrow D, Bootwalla M, Gai X, Navid F, Biegel JA) NPJ Precis Oncol 2023 Feb 20;7(1):21 PMID: 36805676 PMCID: PMC9941464 SCOPUS ID: 2-s2.0-85148747693 02/23/2023 18 CitationsMitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma. (Kaneva K, Schurr TG, Tatarinova TV, Buckley J, Merkurjev D, Triska P, Liu X, Done J, Maglinte DT, Deapen D, Hwang A, Schiffman JD, Triche TJ, Biegel JA, Gai X) Mitochondrion 2022 Nov;67:6-14 PMID: 36115539 PMCID: PMC9997094 SCOPUS ID: 2-s2.0-85138117716 09/18/2022 3 CitationsMitochondrial 1555 G>A variant as a potential risk factor for childhood glioblastoma. (Li S, Gai X, Myint SS, Arroyo K, Morimoto L, Metayer C, de Smith AJ, Walsh KM, Wiemels JL) Neurooncol Adv 2022;4(1):vdac045 PMID: 35571988 PMCID: PMC9092641 SCOPUS ID: 2-s2.0-85134970466 05/17/2022 2 Citationsm.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. (Jean J, Christodoulou E, Gai X, Tamrazi B, Vera M, Mitchell WG, Schmidt RJ) Cold Spring Harb Mol Case Stud 2022 Feb;8(2) PMID: 35217561 PMCID: PMC8958915 SCOPUS ID: 2-s2.0-85128000460 02/27/2022 Whose Data, Whose Risk? Omics Privacy Concerns Should be Defined by Individuals, not Researchers. (Derrington SF, Deardorff MA, Judkins AR, Gai X) Am J Bioeth 2021 Dec;21(12):67-70 PMID: 34806958 SCOPUS ID: 2-s2.0-85119660306 11/23/2021 1 CitationThe spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors. (Kaneva K, O'Halloran K, Triska P, Liu X, Merkurjev D, Bootwalla M, Ryutov A, Cotter JA, Ostrow D, Biegel JA, Gai X) Neurooncol Adv 2021;3(1):vdab074 PMID: 34337412 PMCID: PMC8320689 SCOPUS ID: 2-s2.0-85125390996 08/03/2021 5 CitationsInter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy. (Wong EY, Xu L, Shen L, Kim ME, Polski A, Prabakar RK, Shah R, Jubran R, Kim JW, Biegel JA, Gai X, Kuhn P, Hicks J, Berry JL) NPJ Precis Oncol 2021 Jul 27;5(1):73 PMID: 34316014 PMCID: PMC8316348 SCOPUS ID: 2-s2.0-85116854843 07/29/2021 11 CitationsRapidly 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. (Shen L, Bard JD, Triche TJ, Judkins AR, Biegel JA, Gai X) Emerg Microbes Infect 2021 Dec;10(1):1293-1299 PMID: 34125658 PMCID: PMC8238060 SCOPUS ID: 2-s2.0-85111785640 06/15/2021 15 CitationsHigh Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19. (Pandey U, Yee R, Shen L, Judkins AR, Bootwalla M, Ryutov A, Maglinte DT, Ostrow D, Precit M, Biegel JA, Bender JM, Gai X, Dien Bard J) Open Forum Infect Dis 2021 Jun;8(6):ofaa551 PMID: 34095334 PMCID: PMC7717363 SCOPUS ID: 2-s2.0-85107084456 06/08/2021 14 CitationsIncreased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series. (Truong TT, Ryutov A, Pandey U, Yee R, Goldberg L, Bhojwani D, Aguayo-Hiraldo P, Pinsky BA, Pekosz A, Shen L, Boyd SD, Wirz OF, Röltgen K, Bootwalla M, Maglinte DT, Ostrow D, Ruble D, Han JH, Biegel JA, Li M, Huang C, Sahoo MK, Pannaraj PS, O'Gorman M, Judkins AR, Gai X, Dien Bard J) EBioMedicine 2021 May;67:103355 PMID: 33915337 PMCID: PMC8072072 SCOPUS ID: 2-s2.0-85107085188 04/30/2021 95 CitationsEmerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications. (Shen L, Bard JD, Triche TJ, Judkins AR, Biegel JA, Gai X) Emerg Microbes Infect 2021 Dec;10(1):885-893 PMID: 33896413 PMCID: PMC8118436 SCOPUS ID: 2-s2.0-85105817318 04/27/2021 37 CitationsUtility of viral whole-genome sequencing for institutional infection surveillance during the coronavirus disease 2019 (COVID-19) pandemic. (Ryutov A, Gai X, Ostrow D, Maglinte DT, Flores J, Salas EJ, Glucoft M, Smit M, Dien Bard J) Infect Control Hosp Epidemiol 2022 Aug;43(8):1086-1088 PMID: 33866984 PMCID: PMC8144805 SCOPUS ID: 2-s2.0-85135419442 04/20/2021 5 CitationsEstablishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. (Xu L, Kim ME, Polski A, Prabakar RK, Shen L, Peng CC, Reid MW, Chévez-Barrios P, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Biegel JA, Gai X, Hicks J, Berry JL) Cancers (Basel) 2021 Mar 13;13(6) PMID: 33805776 PMCID: PMC8001323 SCOPUS ID: 2-s2.0-85102465078 04/04/2021 38 CitationsPersistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity. (Truong TT, Ryutov A, Pandey U, Yee R, Goldberg L, Bhojwani D, Aguayo-Hiraldo P, Pinsky BA, Pekosz A, Shen L, Boyd SD, Wirz OF, Röltgen K, Bootwalla M, Maglinte DT, Ostrow D, Ruble D, Han JH, Biegel JA, Li M, Huang C, Sahoo MK, Pannaraj PS, O'Gorman M, Judkins AR, Gai X, Bard JD) medRxiv 2021 Mar 02 PMID: 33688673 PMCID: PMC7941650 03/11/2021 Early pandemic molecular diversity of SARS-CoV-2 in children. (Moustafa AM, Otto W, Gai X, Pandey U, Ryutov A, Bootwalla M, Maglinte DT, Shen L, Ruble D, Ostrow D, Gerber JS, Bard JD, Harris RM, Planet PJ) medRxiv 2021 Feb 19 PMID: 33619507 PMCID: PMC7899477 02/24/2021 Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country. (Shen L, Dien Bard J, Biegel JA, Judkins AR, Gai X) Front Microbiol 2020;11:573430 PMID: 33013809 PMCID: PMC7509426 SCOPUS ID: 2-s2.0-85091045812 10/06/2020 14 CitationsSpecifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. (McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ) Hum Mutat 2020 Dec;41(12):2028-2057 PMID: 32906214 PMCID: PMC7717623 SCOPUS ID: 2-s2.0-85096739818 09/10/2020 95 CitationsSimultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. (Xu L, Shen L, Polski A, Prabakar RK, Shah R, Jubran R, Kim JW, Biegel J, Kuhn P, Cobrinik D, Hicks J, Gai X, Berry JL) Ophthalmic Genet 2020 Dec;41(6):526-532 PMID: 32799607 PMCID: PMC7806277 SCOPUS ID: 2-s2.0-85089545397 08/18/2020 27 CitationsAnthOligo: automating the design of oligonucleotides for capture/enrichment technologies. (Jayaraman P, Mosbruger T, Hu T, Tairis NG, Wu C, Clark PM, D'Arcy M, Ferriola D, Mackiewicz K, Gai X, Monos D, Sarmady M) Bioinformatics 2020 Aug 01;36(15):4353-4356 PMID: 32484858 PMCID: PMC7520035 SCOPUS ID: 2-s2.0-85091807937 06/03/2020 4 CitationsClinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. (Shen L, McCormick EM, Muraresku CC, Falk MJ, Gai X) Clin Lab Med 2020 Jun;40(2):149-161 PMID: 32439066 PMCID: PMC7250163 SCOPUS ID: 2-s2.0-85084766240 05/23/2020 8 CitationsVariability in retinoblastoma genome stability is driven by age and not heritability. (Polski A, Xu L, Prabakar RK, Gai X, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Hicks J, Berry JL) Genes Chromosomes Cancer 2020 Oct;59(10):584-590 PMID: 32390242 PMCID: PMC7441809 SCOPUS ID: 2-s2.0-85086244414 05/12/2020 20 CitationsDetection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods. (Kaneva K, Merkurjev D, Ostrow D, Ryutov A, Triska P, Stachelek K, Cobrinik D, Biegel JA, Gai X) Mitochondrion 2020 Mar;51:97-103 PMID: 31972374 PMCID: PMC7502000 SCOPUS ID: 2-s2.0-85078114194 01/24/2020 7 CitationsResistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. (Arboleda-Velasquez JF, Lopera F, O'Hare M, Delgado-Tirado S, Marino C, Chmielewska N, Saez-Torres KL, Amarnani D, Schultz AP, Sperling RA, Leyton-Cifuentes D, Chen K, Baena A, Aguillon D, Rios-Romenets S, Giraldo M, Guzmán-Vélez E, Norton DJ, Pardilla-Delgado E, Artola A, Sanchez JS, Acosta-Uribe J, Lalli M, Kosik KS, Huentelman MJ, Zetterberg H, Blennow K, Reiman RA, Luo J, Chen Y, Thiyyagura P, Su Y, Jun GR, Naymik M, Gai X, Bootwalla M, Ji J, Shen L, Miller JB, Kim LA, Tariot PN, Johnson KA, Reiman EM, Quiroz YT) Nat Med 2019 Nov;25(11):1680-1683 PMID: 31686034 PMCID: PMC6898984 SCOPUS ID: 2-s2.0-85074768882 11/07/2019 332 CitationsBilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. (Zhang Y, Danesh J, Green KM, Schmidt RJ, Biegel J, Gai X, Lee TC, Kashani AH, Nagiel A) J Vitreoretin Dis 2020;4(1):69-74 PMID: 37009563 PMCID: PMC9976081 SCOPUS ID: 2-s2.0-85155672136 10/17/2019 2 CitationsUtility of In Vitro Mutagenesis of RPE65 Protein for Verification of Mutational Pathogenicity Before Gene Therapy. (Yang U, Gentleman S, Gai X, Gorin MB, Borchert MS, Lee TC, Villanueva A, Koenekoop R, Maguire AM, Bennett J, Redmond TM, Nagiel A) JAMA Ophthalmol 2019 Dec 01;137(12):1381-1388 PMID: 31580392 PMCID: PMC6777234 SCOPUS ID: 2-s2.0-85073001203 10/04/2019 14 CitationsA semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants. (Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X) Cold Spring Harb Mol Case Stud 2019 Apr;5(2) PMID: 30755392 PMCID: PMC6549575 SCOPUS ID: 2-s2.0-85064199735 02/14/2019 42 CitationsLandscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. (Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ Jr, Biegel JA, Gai X) Cancer Res 2019 Apr 01;79(7):1318-1330 PMID: 30709931 PMCID: PMC6445760 SCOPUS ID: 2-s2.0-85064201652 02/03/2019 32 CitationsOncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. (Hiemenz MC, Ostrow DG, Busse TM, Buckley J, Maglinte DT, Bootwalla M, Done J, Ji J, Raca G, Ryutov A, Xu X, Zhen CJ, Conroy JM, Hazard FK, Deignan JL, Rogers BB, Treece AL, Parham DM, Gai X, Judkins AR, Triche TJ, Biegel JA) J Mol Diagn 2018 Nov;20(6):765-776 PMID: 30138724 SCOPUS ID: 2-s2.0-85054569211 08/24/2018 65 CitationsIdentification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report. (Bryant L, Lozynska O, Marsh A, Papp TE, van Gorder L, Serrano LW, Gai X, Maguire AM, Aleman TS, Bennett J) Br J Ophthalmol 2019 Jun;103(6):761-767 PMID: 30030392 PMCID: PMC6582727 SCOPUS ID: 2-s2.0-85050631488 07/22/2018 6 CitationsUSMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. (Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ) Hum Mol Genet 2018 Oct 01;27(19):3305-3312 PMID: 29917077 PMCID: PMC6140788 SCOPUS ID: 2-s2.0-85059260576 06/20/2018 45 CitationsMSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion. (Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X) Hum Mutat 2018 Jun;39(6):806-810 PMID: 29539190 PMCID: PMC5992054 SCOPUS ID: 2-s2.0-85044843395 03/15/2018 24 CitationsClinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory. (Ponomarenko P, Ryutov A, Maglinte DT, Baranova A, Tatarinova TV, Gai X) BMC Med Genomics 2017 Oct 06;10(1):57 PMID: 28985730 PMCID: PMC5639583 SCOPUS ID: 2-s2.0-85030703817 10/08/2017 5 CitationsWhole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy. (Ung C, Sanchez AV, Shen L, Davoudi S, Ahmadi T, Navarro-Gomez D, Chen CJ, Hancock H, Penman A, Hoadley S, Consugar M, Restrepo C, Shah VA, Arboleda-Velasquez JF, Sobrin L, Gai X, Kim LA) Vision Res 2017 Oct;139:168-176 PMID: 28431867 PMCID: PMC5912887 SCOPUS ID: 2-s2.0-85019046056 04/23/2017 38 CitationsIdentification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis. (Lam JD, Oh DJ, Wong LL, Amarnani D, Park-Windhol C, Sanchez AV, Cardona-Velez J, McGuone D, Stemmer-Rachamimov AO, Eliott D, Bielenberg DR, van Zyl T, Shen L, Gai X, D'Amore PA, Kim LA, Arboleda-Velasquez JF) Diabetes 2017 Jul;66(7):1950-1956 PMID: 28400392 PMCID: PMC5482092 SCOPUS ID: 2-s2.0-85021181121 04/13/2017 55 CitationsInherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. (Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L) Am J Med Genet A 2017 May;173(5):1390-1395 PMID: 28371217 PMCID: PMC7521841 SCOPUS ID: 2-s2.0-85017376734 04/04/2017 27 CitationsCopy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. (Bujakowska KM, Fernandez-Godino R, Place E, Consugar M, Navarro-Gomez D, White J, Bedoukian EC, Zhu X, Xie HM, Gai X, Leroy BP, Pierce EA) Genet Med 2017 Jun;19(6):643-651 PMID: 27735924 PMCID: PMC6377944 SCOPUS ID: 2-s2.0-85020166648 10/14/2016 46 CitationsThe next generation of target capture technologies - large DNA fragment enrichment and sequencing determines regional genomic variation of high complexity. (Dapprich J, Ferriola D, Mackiewicz K, Clark PM, Rappaport E, D'Arcy M, Sasson A, Gai X, Schug J, Kaestner KH, Monos D) BMC Genomics 2016 Jul 09;17:486 PMID: 27393338 PMCID: PMC4938946 SCOPUS ID: 2-s2.0-84991800774 07/10/2016 55 CitationsNOD2 genetic variants and sarcoidosis-associated uveitis. (Davoudi S, Navarro-Gomez D, Shen L, Ung C, Ren A, Sullivan L, Kwong M, Janessian M, Comander J, Gai X, Lobo AM, Papaliodis GN, Sobrin L) Am J Ophthalmol Case Rep 2016 Oct;3:39-42 PMID: 29503906 PMCID: PMC5757392 SCOPUS ID: 2-s2.0-84996486716 06/01/2016 8 CitationsFrom case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases. (Falk MJ, Shen L, Gai X) Cold Spring Harb Mol Case Stud 2016 May;2(3):a001065 PMID: 27148591 PMCID: PMC4853518 05/06/2016 A novel HSD17B10 mutation impairing the activities of the mitochondrial RNase P complex causes X-linked intractable epilepsy and neurodevelopmental regression. (Falk MJ, Gai X, Shigematsu M, Vilardo E, Takase R, McCormick E, Christian T, Place E, Pierce EA, Consugar M, Gamper HB, Rossmanith W, Hou YM) RNA Biol 2016 May 03;13(5):477-85 PMID: 26950678 PMCID: PMC4962811 SCOPUS ID: 2-s2.0-84963615989 03/08/2016 41 CitationsMSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. (Shen L, Diroma MA, Gonzalez M, Navarro-Gomez D, Leipzig J, Lott MT, van Oven M, Wallace DC, Muraresku CC, Zolkipli-Cunningham Z, Chinnery PF, Attimonelli M, Zuchner S, Falk MJ, Gai X) Hum Mutat 2016 Jun;37(6):540-548 PMID: 26919060 PMCID: PMC4846568 SCOPUS ID: 2-s2.0-84961876861 02/27/2016 38 CitationsAcute and Chronic Ophthalmic Involvement in Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis - A Comprehensive Review and Guide to Therapy. II. Ophthalmic Disease. (Kohanim S, Palioura S, Saeed HN, Akpek EK, Amescua G, Basu S, Blomquist PH, Bouchard CS, Dart JK, Gai X, Gomes JA, Gregory DG, Iyer G, Jacobs DS, Johnson AJ, Kinoshita S, Mantagos IS, Mehta JS, Perez VL, Pflugfelder SC, Sangwan VS, Sippel KC, Sotozono C, Srinivasan B, Tan DT, Tandon R, Tseng SC, Ueta M, Chodosh J) Ocul Surf 2016 Apr;14(2):168-88 PMID: 26882981 SCOPUS ID: 2-s2.0-84963959659 02/18/2016 160 CitationsStevens-Johnson Syndrome/Toxic Epidermal Necrolysis--A Comprehensive Review and Guide to Therapy. I. Systemic Disease. (Kohanim S, Palioura S, Saeed HN, Akpek EK, Amescua G, Basu S, Blomquist PH, Bouchard CS, Dart JK, Gai X, Gomes JA, Gregory DG, Iyer G, Jacobs DS, Johnson AJ, Kinoshita S, Mantagos IS, Mehta JS, Perez VL, Pflugfelder SC, Sangwan VS, Sippel KC, Sotozono C, Srinivasan B, Tan DT, Tandon R, Tseng SC, Ueta M, Chodosh J) Ocul Surf 2016 Jan;14(1):2-19 PMID: 26549248 SCOPUS ID: 2-s2.0-84951937059 11/10/2015 109 CitationsGenetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas. (Arora S, Yan H, Cho I, Fan HY, Luo B, Gai X, Bodian DL, Vockley JG, Zhou Y, Handorf EA, Egleston BL, Andrake MD, Nicolas E, Serebriiskii IG, Yen TJ, Hall MJ, Golemis EA, Enders GH) Gastroenterology 2015 Dec;149(7):1872-1883.e9 PMID: 26344056 PMCID: PMC4663158 SCOPUS ID: 2-s2.0-84952979819 09/08/2015 29 CitationsThe female urinary microbiome in urgency urinary incontinence. (Pearce MM, Zilliox MJ, Rosenfeld AB, Thomas-White KJ, Richter HE, Nager CW, Visco AG, Nygaard IE, Barber MD, Schaffer J, Moalli P, Sung VW, Smith AL, Rogers R, Nolen TL, Wallace D, Meikle SF, Gai X, Wolfe AJ, Brubaker L, Pelvic Floor Disorders Network) Am J Obstet Gynecol 2015 Sep;213(3):347.e1-11 PMID: 26210757 PMCID: PMC4556587 SCOPUS ID: 2-s2.0-84940421485 07/27/2015 207 CitationsInnovative genomic collaboration using the GENESIS (GEM.app) platform. (Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S) Hum Mutat 2015 Oct;36(10):950-6 PMID: 26173844 PMCID: PMC4682547 SCOPUS ID: 2-s2.0-84941876178 07/16/2015 88 CitationsCharacterization of cells from patient-derived fibrovascular membranes in proliferative diabetic retinopathy. (Kim LA, Wong LL, Amarnani DS, Bigger-Allen AA, Hu Y, Marko CK, Eliott D, Shah VA, McGuone D, Stemmer-Rachamimov AO, Gai X, D'Amore PA, Arboleda-Velasquez JF) Mol Vis 2015;21:673-87 PMID: 26120272 PMCID: PMC4462955 SCOPUS ID: 2-s2.0-84935842609 06/30/2015 22 CitationsCopy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. 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