Medical College of Wisconsin
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Xiaowu Gai PhD

Xiaowu Gai PhD profile photo picture

Director, Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Quantitative Health Services
Program: Quantitative Health Sciences


Research Areas of Interest

  • Computational Biology
  • DNA Copy Number Variations
  • DNA Mutational Analysis
  • DNA, Mitochondrial
  • Databases, Genetic
  • Exome
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genome, Human
  • Genome, Mitochondrial
  • Genomics
  • Genotype
  • Haplotypes
  • High-Throughput Nucleotide Sequencing
  • Mitochondria
  • Mitochondrial Diseases
  • Mutation
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Publications (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 Citation
  • An 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 Citation
  • Low-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 Citations
  • Expert 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 Citations
  • Resilience 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 Citations
  • Combined 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 Citations
  • Mitochondrial 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 Citations
  • Mitochondrial 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 Citations
  • m.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 Citation
  • The 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 Citations
  • Inter-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 Citations
  • Rapidly 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 Citations
  • High 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 Citations
  • Increased 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 Citations
  • Emerging 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 Citations
  • Utility 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 Citations
  • Establishing 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 Citations
  • Persistent 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 Citations
  • Specifications 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 Citations
  • Simultaneous 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 Citations
  • AnthOligo: 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 Citations
  • Clinical 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 Citations
  • Variability 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 Citations
  • Detection 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 Citations
  • Resistance 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 Citations
  • Bilateral 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 Citations
  • Utility 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 Citations
  • A 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 Citations
  • Landscape 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 Citations
  • OncoKids: 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 Citations
  • Identification 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 Citations
  • USMG5 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 Citations
  • MSeqDR 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 Citations
  • Clinical 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 Citations
  • Whole 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 Citations
  • Identification 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 Citations
  • Inherited 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 Citations
  • Copy-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 Citations
  • The 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 Citations
  • NOD2 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 Citations
  • From 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 Citations
  • MSeqDR: 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 Citations
  • Acute 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 Citations
  • Stevens-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 Citations
  • Genetic 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 Citations
  • The 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 Citations
  • Innovative 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 Citations
  • Characterization 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 Citations
  • Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. (Mlynarski EE, Sheridan MB, Xie M, Guo T, Racedo SE, McDonald-McGinn DM, Gai X, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Shaikh TH, Bassett AS, Goldmuntz E, Morrow BE, Emanuel BS, International Chromosome 22q11.2 Consortium) Am J Hum Genet 2015 May 07;96(5):753-64 PMID: 25892112 PMCID: PMC4570279 SCOPUS ID: 2-s2.0-84929282777 04/22/2015       63 Citations
  • 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. (Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X, MSeqDR Consortium Participants, MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,, Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,, Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,, Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,, Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong) Mol Genet Metab 2015 Mar;114(3):388-96 PMID: 25542617 PMCID: PMC4512182 SCOPUS ID: 2-s2.0-84924206735 12/30/2014       68 Citations
  • Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. (Navarro-Gomez D, Leipzig J, Shen L, Lott M, Stassen AP, Wallace DC, Wiggs JL, Falk MJ, van Oven M, Gai X) Bioinformatics 2015 Apr 15;31(8):1310-2 PMID: 25505086 PMCID: PMC4393525 SCOPUS ID: 2-s2.0-84927739552 12/17/2014       51 Citations
  • Targeted exon sequencing in Usher syndrome type I. (Bujakowska KM, Consugar M, Place E, Harper S, Lena J, Taub DG, White J, Navarro-Gomez D, Weigel DiFranco C, Farkas MH, Gai X, Berson EL, Pierce EA) Invest Ophthalmol Vis Sci 2014 Dec 02;55(12):8488-96 PMID: 25468891 PMCID: PMC4280089 SCOPUS ID: 2-s2.0-84920066317 12/04/2014       19 Citations
  • Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. (Consugar MB, Navarro-Gomez D, Place EM, Bujakowska KM, Sousa ME, Fonseca-Kelly ZD, Taub DG, Janessian M, Wang DY, Au ED, Sims KB, Sweetser DA, Fulton AB, Liu Q, Wiggs JL, Gai X, Pierce EA) Genet Med 2015 Apr;17(4):253-261 PMID: 25412400 PMCID: PMC4572572 SCOPUS ID: 2-s2.0-84926488048 11/21/2014       198 Citations
  • Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA) Hum Mol Genet 2015 Jan 01;24(1):230-42 PMID: 25168386 PMCID: PMC4326328 SCOPUS ID: 2-s2.0-84921488280 08/30/2014       125 Citations
  • The female urinary microbiome: a comparison of women with and without urgency urinary incontinence. (Pearce MM, Hilt EE, Rosenfeld AB, Zilliox MJ, Thomas-White K, Fok C, Kliethermes S, Schreckenberger PC, Brubaker L, Gai X, Wolfe AJ) mBio 2014 Jul 08;5(4):e01283-14 PMID: 25006228 PMCID: PMC4161260 SCOPUS ID: 2-s2.0-84908309816 07/10/2014       505 Citations
  • Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. (Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H) JIMD Rep 2014;14:119 PMID: 24973975 PMCID: PMC4213340 SCOPUS ID: 2-s2.0-85060294936 06/30/2014       5 Citations
  • Mitochondrial DNA variant in COX1 subunit significantly alters energy metabolism of geographically divergent wild isolates in Caenorhabditis elegans. (Dingley SD, Polyak E, Ostrovsky J, Srinivasan S, Lee I, Rosenfeld AB, Tsukikawa M, Xiao R, Selak MA, Coon JJ, Hebert AS, Grimsrud PA, Kwon YJ, Pagliarini DJ, Gai X, Schurr TG, Hüttemann M, Nakamaru-Ogiso E, Falk MJ) J Mol Biol 2014 May 29;426(11):2199-216 PMID: 24534730 PMCID: PMC4067970 SCOPUS ID: 2-s2.0-84899982167 02/19/2014       32 Citations
  • AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. (Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Yiran G, Tian L, Palmieri F, Hakonarson H) JIMD Rep 2014;14:77-85 PMID: 24515575 PMCID: PMC4213337 SCOPUS ID: 2-s2.0-85060290951 02/12/2014       66 Citations
  • Urine is not sterile: use of enhanced urine culture techniques to detect resident bacterial flora in the adult female bladder. (Hilt EE, McKinley K, Pearce MM, Rosenfeld AB, Zilliox MJ, Mueller ER, Brubaker L, Gai X, Wolfe AJ, Schreckenberger PC) J Clin Microbiol 2014 Mar;52(3):871-6 PMID: 24371246 PMCID: PMC3957746 SCOPUS ID: 2-s2.0-84894541568 12/29/2013       568 Citations
  • Single nucleotide polymorphism array analysis of bone marrow failure patients reveals characteristic patterns of genetic changes. (Babushok DV, Xie HM, Roth JJ, Perdigones N, Olson TS, Cockroft JD, Gai X, Perin JC, Li Y, Paessler ME, Hakonarson H, Podsakoff GM, Mason PJ, Biegel JA, Bessler M) Br J Haematol 2014 Jan;164(1):73-82 PMID: 24116929 PMCID: PMC3986350 SCOPUS ID: 2-s2.0-84889602577 10/15/2013       17 Citations
  • Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M) Am J Hum Genet 2013 Sep 05;93(3):482-95 PMID: 23993194 PMCID: PMC3769923 SCOPUS ID: 2-s2.0-84883780647 09/03/2013       128 Citations
  • Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. (Bannwarth S, Procaccio V, Lebre AS, Jardel C, Chaussenot A, Hoarau C, Maoulida H, Charrier N, Gai X, Xie HM, Ferre M, Fragaki K, Hardy G, Mousson de Camaret B, Marlin S, Dhaenens CM, Slama A, Rocher C, Paul Bonnefont J, Rötig A, Aoutil N, Gilleron M, Desquiret-Dumas V, Reynier P, Ceresuela J, Jonard L, Devos A, Espil-Taris C, Martinez D, Gaignard P, Le Quan Sang KH, Amati-Bonneau P, Falk MJ, Florentz C, Chabrol B, Durand-Zaleski I, Paquis-Flucklinger V) J Med Genet 2013 Oct;50(10):704-14 PMID: 23847141 PMCID: PMC3786640 SCOPUS ID: 2-s2.0-84890230476 07/13/2013       94 Citations
  • Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. (Falk MJ, Pierce EA, Consugar M, Xie MH, Guadalupe M, Hardy O, Rappaport EF, Wallace DC, LeProust E, Gai X) Discov Med 2012 Dec;14(79):389-99 PMID: 23272691 PMCID: PMC3923327 SCOPUS ID: 2-s2.0-84891673654 01/01/2013       42 Citations
  • NMNAT1 mutations cause Leber congenital amaurosis. (Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA) Nat Genet 2012 Sep;44(9):1040-5 PMID: 22842227 PMCID: PMC3454532 SCOPUS ID: 2-s2.0-84865677702 07/31/2012       160 Citations
  • Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. (Xie HM, Perin JC, Schurr TG, Dulik MC, Zhadanov SI, Baur JA, King MP, Place E, Clarke C, Grauer M, Schug J, Santani A, Albano A, Kim C, Procaccio V, Hakonarson H, Gai X, Falk MJ) BMC Bioinformatics 2011 Oct 19;12:402 PMID: 22011106 PMCID: PMC3234255 SCOPUS ID: 2-s2.0-80054123355 10/21/2011       19 Citations
  • Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. (Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH) Congenit Heart Dis 2011;6(6):592-602 PMID: 22010865 PMCID: PMC4575121 SCOPUS ID: 2-s2.0-82355170520 10/21/2011       88 Citations
  • Rare structural variation of synapse and neurotransmission genes in autism. (Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS) Mol Psychiatry 2012 Apr;17(4):402-11 PMID: 21358714 PMCID: PMC3314176 SCOPUS ID: 2-s2.0-84859009895 03/02/2011       129 Citations
  • Implementation of high resolution single nucleotide polymorphism array analysis as a clinical test for patients with hematologic malignancies. (Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA) Cancer Genet 2011 Jan;204(1):26-38 PMID: 21356189 SCOPUS ID: 2-s2.0-79955666046 03/02/2011       29 Citations
  • Structural variations in attention-deficit hyperactivity disorder. (Elia J, Gai X, Hakonarson H, White PS) Lancet 2011 Jan 29;377(9763):377-8; author reply 378 PMID: 21277432 SCOPUS ID: 2-s2.0-79251592566 02/01/2011       6 Citations
  • Next-generation sequencing: the solution for high-resolution, unambiguous human leukocyte antigen typing. (Lind C, Ferriola D, Mackiewicz K, Heron S, Rogers M, Slavich L, Walker R, Hsiao T, McLaughlin L, D'Arcy M, Gai X, Goodridge D, Sayer D, Monos D) Hum Immunol 2010 Oct;71(10):1033-42 PMID: 20603174 SCOPUS ID: 2-s2.0-77956618378 07/07/2010       124 Citations
  • Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. (Leyva-Vega M, Gerfen J, Thiel BD, Jurkiewicz D, Rand EB, Pawlowska J, Kaminska D, Russo P, Gai X, Krantz ID, Kamath BM, Hakonarson H, Haber BA, Spinner NB) Am J Med Genet A 2010 Apr;152A(4):886-95 PMID: 20358598 PMCID: PMC2914625 SCOPUS ID: 2-s2.0-77950448432 04/02/2010       63 Citations
  • CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics. (Gai X, Perin JC, Murphy K, O'Hara R, D'arcy M, Wenocur A, Xie HM, Rappaport EF, Shaikh TH, White PS) BMC Bioinformatics 2010 Feb 04;11:74 PMID: 20132550 PMCID: PMC2827374 SCOPUS ID: 2-s2.0-77249147043 02/06/2010       44 Citations
  • High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. (Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H) Genome Res 2009 Sep;19(9):1682-90 PMID: 19592680 PMCID: PMC2752118 SCOPUS ID: 2-s2.0-69749121852 07/14/2009       306 Citations
  • Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. (Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS) Mol Psychiatry 2010 Jun;15(6):637-46 PMID: 19546859 PMCID: PMC2877197 SCOPUS ID: 2-s2.0-77952887857 06/24/2009       421 Citations
  • 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. (Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA) Clin Cancer Res 2009 Mar 15;15(6):1923-30 PMID: 19276269 PMCID: PMC2668138 SCOPUS ID: 2-s2.0-63549132021 03/12/2009       168 Citations
  • Sequence mining and transcript profiling to explore cyst nematode parasitism. (Elling AA, Mitreva M, Gai X, Martin J, Recknor J, Davis EL, Hussey RS, Nettleton D, McCarter JP, Baum TJ) BMC Genomics 2009 Jan 30;10:58 PMID: 19183474 PMCID: PMC2640417 SCOPUS ID: 2-s2.0-60849135140 02/03/2009       38 Citations
  • A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay. (Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH) Eur J Med Genet 2009;52(4):265-8 PMID: 19100872 PMCID: PMC4391973 SCOPUS ID: 2-s2.0-67650647612 12/23/2008       18 Citations
  • SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. (Kamath BM, Thiel BD, Gai X, Conlin LK, Munoz PS, Glessner J, Clark D, Warthen DM, Shaikh TH, Mihci E, Piccoli DA, Grant SF, Hakonarson H, Krantz ID, Spinner NB) Hum Mutat 2009 Mar;30(3):371-8 PMID: 19058200 PMCID: PMC2650004 SCOPUS ID: 2-s2.0-61649106714 12/06/2008       54 Citations
  • 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. (Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA) Brain Pathol 2009 Jul;19(3):449-58 PMID: 19016743 PMCID: PMC2850204 SCOPUS ID: 2-s2.0-66949147222 11/20/2008       205 Citations
  • Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. (Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, Li M, Derohannessian S, de Bakker PI, Bailey SD, Montpetit A, Edmondson AC, Taylor K, Gai X, Wang SS, Fornage M, Shaikh T, Groop L, Boehnke M, Hall AS, Hattersley AT, Frackelton E, Patterson N, Chiang CW, Kim CE, Fabsitz RR, Ouwehand W, Price AL, Munroe P, Caulfield M, Drake T, Boerwinkle E, Reich D, Whitehead AS, Cappola TP, Samani NJ, Lusis AJ, Schadt E, Wilson JG, Koenig W, McCarthy MI, Kathiresan S, Gabriel SB, Hakonarson H, Anand SS, Reilly M, Engert JC, Nickerson DA, Rader DJ, Hirschhorn JN, Fitzgerald GA) PLoS One 2008;3(10):e3583 PMID: 18974833 PMCID: PMC2571995 SCOPUS ID: 2-s2.0-56349155783 11/01/2008       324 Citations
  • A GATA-1-regulated microRNA locus essential for erythropoiesis. (Dore LC, Amigo JD, Dos Santos CO, Zhang Z, Gai X, Tobias JW, Yu D, Klein AM, Dorman C, Wu W, Hardison RC, Paw BH, Weiss MJ) Proc Natl Acad Sci U S A 2008 Mar 04;105(9):3333-8 PMID: 18303114 PMCID: PMC2265118 SCOPUS ID: 2-s2.0-42149179897 02/28/2008       297 Citations
  • Divergent evolution of arrested development in the dauer stage of Caenorhabditis elegans and the infective stage of Heterodera glycines. (Elling AA, Mitreva M, Recknor J, Gai X, Martin J, Maier TR, McDermott JP, Hewezi T, McK Bird D, Davis EL, Hussey RS, Nettleton D, McCarter JP, Baum TJ) Genome Biol 2007;8(10):R211 PMID: 17919324 PMCID: PMC2246285 SCOPUS ID: 2-s2.0-42949087595 10/09/2007       41 Citations
  • A compilation of soybean ESTs: generation and analysis. (Shoemaker R, Keim P, Vodkin L, Retzel E, Clifton SW, Waterston R, Smoller D, Coryell V, Khanna A, Erpelding J, Gai X, Brendel V, Raph-Schmidt C, Shoop EG, Vielweber CJ, Schmatz M, Pape D, Bowers Y, Theising B, Martin J, Dante M, Wylie T, Granger C) Genome 2002 Apr;45(2):329-38 PMID: 11962630 SCOPUS ID: 2-s2.0-0036009442 04/19/2002       111 Citations
  • Comparison of RNA expression profiles based on maize expressed sequence tag frequency analysis and micro-array hybridization. (Fernandes J, Brendel V, Gai X, Lal S, Chandler VL, Elumalai RP, Galbraith DW, Pierson EA, Walbot V) Plant Physiol 2002 Mar;128(3):896-910 PMID: 11891246 PMCID: PMC152203 SCOPUS ID: 2-s2.0-0036006045 03/14/2002       88 Citations
  • Ty5 gag mutations increase retrotransposition and suggest a role for hydrogen bonding in the function of the nucleocapsid zinc finger. (Gao X, Rowley DJ, Gai X, Voytas DF) J Virol 2002 Apr;76(7):3240-7 PMID: 11884548 PMCID: PMC136051 SCOPUS ID: 2-s2.0-0036118328 03/09/2002       5 Citations
  • Targeting of the yeast Ty5 retrotransposon to silent chromatin is mediated by interactions between integrase and Sir4p. (Xie W, Gai X, Zhu Y, Zappulla DC, Sternglanz R, Voytas DF) Mol Cell Biol 2001 Oct;21(19):6606-14 PMID: 11533248 PMCID: PMC99806 SCOPUS ID: 2-s2.0-0034816496 09/05/2001       131 Citations
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  • A single amino acid change in the yeast retrotransposon Ty5 abolishes targeting to silent chromatin. (Gai X, Voytas DF) Mol Cell 1998 Jun;1(7):1051-5 PMID: 9651588 SCOPUS ID: 2-s2.0-0032086911 07/04/1998       46 Citations
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