Xiaowu Gai, PhD

Title(s)Professor of Clinical Pathology
SchoolKeck School of Medicine of Usc
AddressCHLA 4650 W. Sunset Blvd.
Off Campus
Los Angeles CA 90026
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis. J Mol Diagn. 2024 Feb 13. 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. PMID: 38360210.
      View in: PubMed   Mentions:    Fields:    
    2. MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis. Curr Protoc. 2024 Jan; 4(1):e955. Shen L, Falk MJ, Gai X. PMID: 38284225.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    3. An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors. J Mol Diagn. 2024 Feb; 26(2):127-139. 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. PMID: 38008288.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Ann Neurol. 2023 10; 94(4):696-712. 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. PMID: 37255483; PMCID: PMC10763625.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    5. Low-pass whole-genome and targeted sequencing of cell-free DNA from cerebrospinal fluid in pediatric patients with central nervous system tumors. Neurooncol Adv. 2023 Jan-Dec; 5(1):vdad077. 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. PMID: 37461402; PMCID: PMC10349915.
      View in: PubMed   Mentions: 2  
    6. Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man. Nat Med. 2023 05; 29(5):1243-1252. 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. PMID: 37188781; PMCID: PMC10202812.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    7. Combined low-pass whole genome and targeted sequencing in liquid biopsies for pediatric solid tumors. NPJ Precis Oncol. 2023 Feb 20; 7(1):21. 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. PMID: 36805676; PMCID: PMC9941464.
      View in: PubMed   Mentions: 3  
    8. Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma. Mitochondrion. 2022 11; 67:6-14. 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. PMID: 36115539; PMCID: PMC9997094.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    9. Potential of Aqueous Humor as a Liquid Biopsy for Uveal Melanoma. Int J Mol Sci. 2022 Jun 02; 23(11). Im DH, Peng CC, Xu L, Kim ME, Ostrow D, Yellapantula V, Bootwalla M, Biegel JA, Gai X, Prabakar RK, Kuhn P, Hicks J, Berry JL. PMID: 35682905; PMCID: PMC9181140.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    10. Mitochondrial 1555 G>A variant as a potential risk factor for childhood glioblastoma. Neurooncol Adv. 2022 Jan-Dec; 4(1):vdac045. Li S, Gai X, Myint SS, Arroyo K, Morimoto L, Metayer C, de Smith AJ, Walsh KM, Wiemels JL, Wiemels JL. PMID: 35571988; PMCID: PMC9092641.
      View in: PubMed   Mentions: 2  
    11. m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. Cold Spring Harb Mol Case Stud. 2022 02; 8(2). Jean J, Christodoulou E, Gai X, Tamrazi B, Vera M, Mitchell WG, Schmidt RJ. PMID: 35217561; PMCID: PMC8958915.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Implementation of a Streamlined SARS-CoV-2 Whole-Genome Sequencing Assay for Expeditious Surveillance during the Emergence of the Omicron Variant. J Clin Microbiol. 2022 04 20; 60(4):e0256921. Fissel JA, Mestas J, Chen PY, Flores-Vazquez J, Truong TT, Bootwalla M, Maglinte DT, Gai X, Dien Bard J. PMID: 35317603; PMCID: PMC9020332.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    13. 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. Emerg Microbes Infect. 2021 Dec; 10(1):1293-1299. Shen L, Bard JD, Triche TJ, Judkins AR, Biegel JA, Gai X. PMID: 34125658; PMCID: PMC8238060.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    14. Whose Data, Whose Risk? Omics Privacy Concerns Should be Defined by Individuals, not Researchers. Am J Bioeth. 2021 12; 21(12):67-70. Derrington SF, Deardorff MA, Judkins AR, Gai X. PMID: 34806958.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    15. Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications. Emerg Microbes Infect. 2021 Dec; 10(1):885-893. Shen L, Bard JD, Triche TJ, Judkins AR, Biegel JA, Gai X. PMID: 33896413; PMCID: PMC8118436.
      View in: PubMed   Mentions: 30     Fields:    Translation:HumansCells
    16. Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis. J Vis Exp. 2021 09 07; (175). Kim ME, Xu L, Prabakar RK, Shen L, Peng CC, Kuhn P, Gai X, Hicks J, Berry JL. PMID: 34570090; PMCID: PMC9200366.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    17. Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy. NPJ Precis Oncol. 2021 Jul 27; 5(1):73. 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. PMID: 34316014; PMCID: PMC8316348.
      View in: PubMed   Mentions: 7  
    18. The spectrum of mitochondrial DNA (mtDNA) mutations in pediatric CNS tumors. Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab074. Kaneva K, O'Halloran K, Triska P, Liu X, Merkurjev D, Bootwalla M, Ryutov A, Cotter JA, Ostrow D, Biegel JA, Gai X. PMID: 34337412; PMCID: PMC8320689.
      View in: PubMed   Mentions: 3  
    19. Increased viral variants in children and young adults with impaired humoral immunity and persistent SARS-CoV-2 infection: A consecutive case series. EBioMedicine. 2021 May; 67:103355. 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. PMID: 33915337; PMCID: PMC8072072.
      View in: PubMed   Mentions: 83     Fields:    Translation:HumansCells
    20. Utility of viral whole-genome sequencing for institutional infection surveillance during the coronavirus disease 2019 (COVID-19) pandemic. Infect Control Hosp Epidemiol. 2022 08; 43(8):1086-1088. Ryutov A, Gai X, Ostrow D, Maglinte DT, Flores J, Salas EJ, Glucoft M, Smit M, Dien Bard J. PMID: 33866984; PMCID: PMC8144805.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCellsPHPublic Health
    21. Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. Cancers (Basel). 2021 Mar 13; 13(6). 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. PMID: 33805776; PMCID: PMC8001323.
      View in: PubMed   Mentions: 19  
    22. Persistent SARS-CoV-2 infection and increasing viral variants in children and young adults with impaired humoral immunity. medRxiv. 2021 Mar 02. 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. PMID: 33688673; PMCID: PMC7941650.
      View in: PubMed   Mentions: 3  
    23. Early pandemic molecular diversity of SARS-CoV-2 in children. medRxiv. 2021 Feb 19. 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. PMID: 33619507; PMCID: PMC7899477.
      View in: PubMed   Mentions:
    24. High Prevalence of SARS-CoV-2 Genetic Variation and D614G Mutation in Pediatric Patients With COVID-19. Open Forum Infect Dis. 2021 Jun; 8(6):ofaa551. 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. PMID: 34095334; PMCID: PMC7717363.
      View in: PubMed   Mentions: 15  
    25. Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Hum Mutat. 2020 12; 41(12):2028-2057. 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. PMID: 32906214; PMCID: PMC7717623.
      View in: PubMed   Mentions: 51     Fields:    Translation:Humans
    26. Comprehensive Genome Analysis of 6,000 USA SARS-CoV-2 Isolates Reveals Haplotype Signatures and Localized Transmission Patterns by State and by Country. Front Microbiol. 2020; 11:573430. Shen L, Dien Bard J, Biegel JA, Judkins AR, Gai X. PMID: 33013809; PMCID: PMC7509426.
      View in: PubMed   Mentions: 12  
    27. Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. Ophthalmic Genet. 2020 12; 41(6):526-532. 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. PMID: 32799607; PMCID: PMC7806277.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    28. Variability in retinoblastoma genome stability is driven by age and not heritability. Genes Chromosomes Cancer. 2020 10; 59(10):584-590. Polski A, Xu L, Prabakar RK, Gai X, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Hicks J, Berry JL. PMID: 32390242; PMCID: PMC7441809.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    29. Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease. Clin Lab Med. 2020 06; 40(2):149-161. Shen L, McCormick EM, Muraresku CC, Falk MJ, Gai X. PMID: 32439066; PMCID: PMC7250163.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    30. 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. Kaneva K, Merkurjev D, Ostrow D, Ryutov A, Triska P, Stachelek K, Cobrinik D, Biegel JA, Gai X. PMID: 31972374; PMCID: PMC7502000.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    31. Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report. Nat Med. 2019 11; 25(11):1680-1683. 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. PMID: 31686034; PMCID: PMC6898984.
      View in: PubMed   Mentions: 190     Fields:    Translation:Humans
    32. Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy. J Vitreoretin Dis. 2020 Jan-Feb; 4(1):69-74. Zhang Y, Danesh J, Green KM, Schmidt RJ, Biegel J, Gai X, Lee TC, Kashani AH, Nagiel A. PMID: 37009563; PMCID: PMC9976081.
      View in: PubMed   Mentions:
    33. 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). Ji J, Shen L, Bootwalla M, Quindipan C, Tatarinova T, Maglinte DT, Buckley J, Raca G, Saitta SC, Biegel JA, Gai X. PMID: 30755392; PMCID: PMC6549575.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    34. Landscape of Germline and Somatic Mitochondrial DNA Mutations in Pediatric Malignancies. Cancer Res. 2019 04 01; 79(7):1318-1330. Triska P, Kaneva K, Merkurjev D, Sohail N, Falk MJ, Triche TJ, Biegel JA, Gai X. PMID: 30709931; PMCID: PMC6445760.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    35. USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis. Hum Mol Genet. 2018 10 01; 27(19):3305-3312. 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. PMID: 29917077; PMCID: PMC6140788.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    36. OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies. J Mol Diagn. 2018 11; 20(6):765-776. 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. PMID: 30138724.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    37. 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. Shen L, Attimonelli M, Bai R, Lott MT, Wallace DC, Falk MJ, Gai X. PMID: 29539190; PMCID: PMC5992054.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    38. 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. Ponomarenko P, Ryutov A, Maglinte DT, Baranova A, Tatarinova TV, Gai X. PMID: 28985730; PMCID: PMC5639583.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    39. Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy. Vision Res. 2017 10; 139:168-176. 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. PMID: 28431867; PMCID: PMC5912887.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans
    40. Identification of RUNX1 as a Mediator of Aberrant Retinal Angiogenesis. Diabetes. 2017 07; 66(7):1950-1956. 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. PMID: 28400392; PMCID: PMC5482092.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansAnimalsCells
    41. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Am J Med Genet A. 2017 May; 173(5):1390-1395. Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. PMID: 28371217; PMCID: PMC7521841.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    42. Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations. Genet Med. 2017 06; 19(6):643-651. 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. PMID: 27735924; PMCID: PMC6377944.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    43. NOD2 genetic variants and sarcoidosis-associated uveitis. Am J Ophthalmol Case Rep. 2016 Oct; 3:39-42. 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. PMID: 29503906; PMCID: PMC5757392.
      View in: PubMed   Mentions: 3  
    44. 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. Falk MJ, Shen L, Gai X. PMID: 27148591; PMCID: PMC4853518.
      View in: PubMed   Mentions: 7     Fields:    
    45. MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat. 2016 06; 37(6):540-548. 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. PMID: 26919060; PMCID: PMC4846568.
      View in: PubMed   Mentions: 25     Fields:    Translation:Humans
    46. 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. 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. PMID: 26950678; PMCID: PMC4962811.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCells
    47. Innovative genomic collaboration using the GENESIS (GEM.app) platform. Hum Mutat. 2015 Oct; 36(10):950-6. Gonzalez M, Falk MJ, Gai X, Postrel R, Schüle R, Zuchner S. PMID: 26173844; PMCID: PMC4682547.
      View in: PubMed   Mentions: 62     Fields:    Translation:Humans
    48. Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. Bioinformatics. 2015 Apr 15; 31(8):1310-2. Navarro-Gomez D, Leipzig J, Shen L, Lott M, Stassen AP, Wallace DC, Wiggs JL, Falk MJ, van Oven M, Gai X. PMID: 25505086; PMCID: PMC4393525.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    49. 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. 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 Broo, Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, , Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio , Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, , Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley. PMID: 25542617; PMCID: PMC4512182.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    50. Targeted exon sequencing in Usher syndrome type I. Invest Ophthalmol Vis Sci. 2014 Dec 02; 55(12):8488-96. 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. PMID: 25468891; PMCID: PMC4280089.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    51. 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. 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. PMID: 25412400; PMCID: PMC4572572.
      View in: PubMed   Mentions: 141     Fields:    Translation:Humans
    52. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 01; 24(1):230-42. 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. PMID: 25168386; PMCID: PMC4326328.
      View in: PubMed   Mentions: 78     Fields:    Translation:HumansAnimalsCells
    53. Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep. 2014; 14:119. 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. PMID: 24973975; PMCID: PMC4213340.
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    54. 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. Gu XQ, Li YM, Guo J, Zhang LH, Li D, Gai XD. PMID: 24507686.
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    55. 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. 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. PMID: 24534730; PMCID: PMC4067970.
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    56. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate. JIMD Rep. 2014; 14:77-85. 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. PMID: 24515575; PMCID: PMC4213337.
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    57. 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. 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. PMID: 24116929; PMCID: PMC3986350.
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    58. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 05; 93(3):482-95. 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. PMID: 23993194; PMCID: PMC3769923.
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    59. Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. J Med Genet. 2013 Oct; 50(10):704-14. 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. PMID: 23847141; PMCID: PMC3786640.
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    60. 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. Falk MJ, Pierce EA, Consugar M, Xie MH, Guadalupe M, Hardy O, Rappaport EF, Wallace DC, LeProust E, Gai X. PMID: 23272691; PMCID: PMC3923327.
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    61. NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet. 2012 Sep; 44(9):1040-5. 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. PMID: 22842227; PMCID: PMC3454532.
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    62. Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis. 2011 Nov-Dec; 6(6):592-602. Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH. PMID: 22010865; PMCID: PMC4575121.
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    63. Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy. BMC Bioinformatics. 2011 Oct 19; 12:402. 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. PMID: 22011106; PMCID: PMC3234255.
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    64. 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. Dougherty MJ, Wilmoth DM, Tooke LS, Shaikh TH, Gai X, Hakonarson H, Biegel JA. PMID: 21356189.
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    65. 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. 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. PMID: 20358598; PMCID: PMC2914625.
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    66. 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. 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. PMID: 19592680; PMCID: PMC2752118.
      View in: PubMed   Mentions: 186     Fields:    Translation:Humans
    67. 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. Jackson EM, Sievert AJ, Gai X, Hakonarson H, Judkins AR, Tooke L, Perin JC, Xie H, Shaikh TH, Biegel JA. PMID: 19276269; PMCID: PMC2668138.
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    68. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat. 2009 Mar; 30(3):371-8. 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. PMID: 19058200; PMCID: PMC2650004.
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    69. 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. Haldeman-Englert CR, Gai X, Perin JC, Ciano M, Halbach SS, Geiger EA, McDonald-McGinn DM, Hakonarson H, Zackai EH, Shaikh TH. PMID: 19100872; PMCID: PMC4391973.
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    70. 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. 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. PMID: 18974833; PMCID: PMC2571995.
      View in: PubMed   Mentions: 269     Fields:    Translation:Humans
    71. 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. Sievert AJ, Jackson EM, Gai X, Hakonarson H, Judkins AR, Resnick AC, Sutton LN, Storm PB, Shaikh TH, Biegel JA. PMID: 19016743; PMCID: PMC2850204.
      View in: PubMed   Mentions: 113     Fields:    Translation:HumansCells
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