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Nicole Coufal

Photo of Nicole Coufal
Title(s)Associate Professor, Pediatrics
SchoolVc-health Sciences-schools
Address9500 Gilman Drive #
La Jolla CA 92093
ORCID ORCID Icon0000-0001-6547-173 Additional info
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    Collapse Biography 
    Collapse education and training
    University of California, San Diego, San Diego06/2017Fellowship in Pediatric Critical Care
    University of California, San Diego, San Diego06/2014Residency in Pediatrics
    University of California, San Diego, San DiegoMD06/2011Medicine
    University of California, San Diego, San DiegoPhD06/2009Neuroscience

    Collapse Research 
    Collapse research activities and funding
    Chimeric model for study of human retinal microglia in vivo
    NIH R21EY037023Feb 1, 2025 - Jan 31, 2027
    Role: Co-Principal Investigator
    Contribution of AD genetic risk and microglial BIN1 to tauopathy
    NIH R01AG082255Sep 30, 2024 - Jun 30, 2029
    Role: Principal Investigator
    Perturbing the LXR/SREBP axis to decipher protective and pathogenic AD/ADRD microglial phenotypes
    NIH/NINDS RF1AG083977May 1, 2024 - May 31, 2029
    Role: Co-Principal Investigator
    Perturbing the LXR/SREBP axis to decipher protective and pathogenic AD/ADRD microglial phenotypes
    NIH RF1AG083977May 1, 2024 - Apr 30, 2027
    Role: Co-Principal Investigator
    Microglial contribution and therapeutic potential in Friedreich's ataxia
    NIH/NINDS 1R01NS135162Dec 15, 2023 - Dec 14, 2028
    Role: Co-Principal Investigator
    Microgial contribution and therapeutic potential in Friedreich's ataxia
    NIH R01NS135162Dec 15, 2023 - Nov 30, 2028
    Role: Co-Principal Investigator
    Microglial contribution to Down Syndrome Neuropathology
    NINDS NS126452Jan 1, 2023 - Dec 31, 2027
    Role: Principal Investigator
    Microglial contribution to Down Syndrome Neuropathology
    NIH R01NS126452Jan 1, 2023 - Dec 31, 2027
    Role: Principal Investigator
    The Contribution of Microglial MEF2C to Brain Development
    NIH R01NS124637Jan 1, 2022 - Dec 31, 2026
    Role: Principal Investigator
    The Contribution of Microglial MEF2C to Brain Development
    NINDS R01NS124637Jan 1, 2022 - Dec 31, 2026
    Role: Principal Investigator
    Deciphering the Microglial Inflammatory Response in 3D
    Chan Zuckerberg Initiative Single-cell analysis of inflammationSep 1, 2020 - Aug 31, 2021
    Role: Principal Investigator
    Clinician Scientist Development Award: Deciphering the pathogenesis of neurodegeneration in histiocytosis
    Doris Duke Foundation Clinical Scientist Development AwardJul 1, 2020 - Jul 1, 2023
    Role: Principal Investigator
    Pathophysiology of Neurodegenerative Erdheim-Chester Disease and Langerhans Cell Histiocytosis
    Erdheim-Chester Disease Global Alliance Jun 30, 2020 - Jul 1, 2021
    Role: Principal Investigator
    An inflammatory developmental hypothesis for autism spectrum disorder and associated developmental delay
    The Hartwell Foundation Individual Biomedical Research AwardMay 1, 2019 - Apr 30, 2022
    Role: Principal Investigator
    Examining Microglial Environmental Dependent Transcriptional Networks
    NIH K08NS109200Sep 30, 2018 - Aug 31, 2023
    Role: Principal Investigator

    Collapse Featured Content 

    Collapse Bibliographic 
    Collapse publications
    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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Pathogenic myeloid phenotypes drive disease pathology in a novel human neurohistiocytosis model. Blood. 2026 Mar 31. Rajamanickam S, Trescott S, Mak S, Warden AS, Wilpitz AM, Xia B, Nguyen C, Ding H, Picarsic J, Glass CK, Allen CE, Coufal NG. PMID: 41915769.
      View in: PubMed   Mentions:    Fields:    
    2. Investigation of CNS damage following HIV infection and methamphetamine exposure using human iPSC-derived microglia and 3D cerebral assembloid models. bioRxiv. 2025 Dec 10. Tiwari SK, Baidwan G, Trescott S, Jakhmola S, Coufal NG, Rana TM. PMID: 41415405; PMCID: PMC12709470.
      View in: PubMed   Mentions:
    3. Microgliopathy as a primary mediator of neuronal death in models of Friedreich's Ataxia. Nat Commun. 2025 Nov 29; 17(1):81. Pernaci C, Johnson A, Gillette S, Warden AS, McCormick C, Weiser-Novak S, Ramirez G, Broersma EH, Mishra P, Sivakumar A, Cherqui S, Coufal NG. PMID: 41318543; PMCID: PMC12770375.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    4. The brain neurovascular epigenome and its association with dementia. Neuron. 2026 Jan 21; 114(2):268-286.e9. Ziegler KC, Askarova A, Gergian C, Yaa RM, van Dalen JD, Transfeld JL, Zoppi F, Du J, Clode D, Rahbar F, Graham RE, Sargurupremraj M, Debette S, Gonda DD, Levy ML, Chandran S, Falk S, Karow M, Matthews PM, Coufal NG, Nott A. PMID: 41173000.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    5. Host Transcriptomic Analysis of Operative Samples From Children With Suspected Osteoarticular Infections. Pediatr Infect Dis J. 2026 Jan 01; 45(1):e21-e23. Ramchandar N, Farnaes L, Coufal N. PMID: 41131686.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    6. Transcriptional and epigenetic targets of MEF2C in human microglia contribute to cellular functions related to autism risk and age-related disease. Nat Immunol. 2025 Nov; 26(11):1989-2003. Nguyen C, Broersma EH, Warden AS, Mora C, Han CZ, Keulen Z, Spann N, Wang J, Ramirez G, Mak S, Trescott S, Khakpour M, Johnson A, Qureshi F, La Frano MR, Mohajeri K, Talkowski ME, Corradin O, Tremblay MÈ, Glass CK, Coufal NG. PMID: 41125877; PMCID: PMC12571900.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimalsCells
    7. Global human myeloid replacement with peripheral progenitors induces interferonopathy and neurodegeneration. Res Sq. 2025 Oct 03. Wang J, Warden A, Xia B, Mostoller KE, Brandon B, Du M, Spann N, Li RZ, Parast MM, Mestan K, Qureshi F, Corradin O, Glass C, Coufal NG. PMID: 41256000; PMCID: PMC12622173.
      View in: PubMed   Mentions:
    8. Emerging role of complement system in the induction of neuroinflammation in adenylosuccinate lyase deficiency disorder. Brain Behav Immun Health. 2025 Oct; 48:101091. Magnusen AF, Hopkin RJ, Vorhees C, Wilson E, Moehlman M, Hallinan B, Erickson C, DelBello MP, Marsili L, Coufal NG, Pandey MK. PMID: 40896413; PMCID: PMC12397872.
      View in: PubMed   Mentions:
    9. Treatment with intravenous immunoglobulin modulates coagulation- and complement-related pathways in COVID-19 patients. Front Immunol. 2025; 16:1623309. McGrosso D, Raygoza J, Kumar AJ, Lam MTY, Barnes LA, Karandashova S, Perryman A, Geriak M, Odish MF, Coufal NG, Lichtenstein B, Sakoulas G, Meier A, Nizet V, Masso-Silva JA. PMID: 40821834; PMCID: PMC12350128.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    10. The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma. bioRxiv. 2025 May 19. Tharp ME, Han CZ, Talukdar M, Balak CD, Fitzpatrick C, Connor CO, Preissl S, Buchanan J, Nott A, Escoubet L, Mavrommatis K, Gupta M, Schwartz MS, U HS, Jones PS, Levy ML, Gonda DD, Ben-Haim S, Ciacci J, Barba D, Khalessi A, Coufal NG, Chen CC, Glass CK, Page DC. PMID: 38895459; PMCID: PMC11185629.
      View in: PubMed   Mentions:
    11. Long-term follow-up of children who received rapid genomic sequencing. Genet Med. 2025 Jun; 27(6):101403. Sanford Kobayashi E, Tobin LE, Arenchild M, Benson W, Coufal NG, Juarez EF, Kingsmore SF, Knight J, Lenberg J, Schwarz A, Vargas-Shiraishi O, Wigby K, Wigby K, Bainbridge M. PMID: 40062436; PMCID: PMC12183672.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    12. Extubation Practices and Outcomes During Pediatric Respiratory Extracorporeal Membrane Oxygenation: Analysis of the Extracorporeal Life Support Organization Registry, 2018-2022. Pediatr Crit Care Med. 2025 May 01; 26(5):e680-e688. Rufener CR, Boulil Z, Suttner DM, Werho DK, Harvey HA, Bak EI, O'Brien N, Kudchadkar SR, Coufal NG. PMID: 39976496.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome Sequencing. J Intensive Care Med. 2025 05; 40(5):509-518. Perofsky K, Doshi A, Boulil Z, Beauchamp Walters J, Lee E, Dimmock D, Kingsmore S, Coufal NG. PMID: 39648615.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench. Immunol Rev. 2024 10; 327(1):83-99. Hofer MJ, Modesti N, Coufal NG, Wang Q, Sase S, Miner JJ, Vanderver A, Bennett ML. PMID: 39473130; PMCID: PMC11672868.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimals
    15. Rocky Mountain Spotted Fever in Children along the US‒Mexico Border, 2017-2023. Emerg Infect Dis. 2024 Nov; 30(11):2288-2293. Chiang L, Ramchandar N, Aramkul J, Fireizen Y, Beatty ME, Monroe M, Shah S, Foley J, Coufal NG. PMID: 39387516; PMCID: PMC11521158.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    16. Proinflammatory immune cells disrupt angiogenesis and promote germinal matrix hemorrhage in prenatal human brain. Nat Neurosci. 2024 Nov; 27(11):2115-2129. Chen J, Crouch EE, Zawadzki ME, Jacobs KA, Mayo LN, Choi JJ, Lin PY, Shaikh S, Tsui J, Gonzalez-Granero S, Waller S, Kelekar A, Kang G, Valenzuela EJ, Birrueta JO, Diafos LN, Wedderburn-Pugh K, Di Marco B, Xia W, Han CZ, Coufal NG, Glass CK, Fancy SPJ, Alfonso J, Kriegstein AR, Oldham MC, Garcia-Verdugo JM, Kutys ML, Lehtinen MK, Combes AJ, Huang EJ. PMID: 39349662; PMCID: PMC11537974.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    17. Pathogen kinetics and detection by next-generation sequencing in pediatric complicated pneumonia. Diagn Microbiol Infect Dis. 2024 Oct; 110(2):116468. Rodriguez KM, Perofsky KL, Ramchandar N, Foley J, Shah N, Mangifesta M, Schlaberg R, Farnaes L, Stinnett RC, Coufal NG. PMID: 39094237.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    18. Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia. Life Sci Alliance. 2024 08; 7(8). Jones D, Hartung J, Lasalle E, Borquez A, Murillo V, Guidugli L, James KN, Kingsmore SF, Coufal NG. PMID: 38777371; PMCID: PMC11111969.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    19. Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023. Pediatr Crit Care Med. 2024 Aug 01; 25(8):699-709. Rodriguez KM, Vaught J, Salz L, Foley J, Boulil Z, Van Dongen-Trimmer HM, Whalen D, Oluchukwu O, Liu KC, Burton J, Syngal P, Vargas-Shiraishi O, Kingsmore SF, Sanford Kobayashi E, Coufal NG. PMID: 38668387; PMCID: PMC11300160.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    20. Microglial lipid droplet accumulation in tauopathy brain is regulated by neuronal AMPK. Cell Metab. 2024 Jun 04; 36(6):1351-1370.e8. Li Y, Munoz-Mayorga D, Nie Y, Kang N, Tao Y, Lagerwall J, Pernaci C, Curtin G, Coufal NG, Mertens J, Shi L, Chen X. PMID: 38657612; PMCID: PMC11153007.
      View in: PubMed   Mentions: 64     Fields:    Translation:HumansAnimalsCells
    21. Emerging Role of Plasma Microbial Cell-free DNA in the Diagnosis of Pediatric Mucormycosis. Pediatr Infect Dis J. 2024 Jul 01; 43(7):704-707. Gracia M, Hadley E, Ramchandar N, Coufal NG. PMID: 38502901; PMCID: PMC11189742.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    22. Gene editing improves endoplasmic reticulum-mitochondrial contacts and unfolded protein response in Friedreich's ataxia iPSC-derived neurons. Front Pharmacol. 2024; 15:1323491. Mishra P, Sivakumar A, Johnson A, Pernaci C, Warden AS, El-Hachem LR, Hansen E, Badell-Grau RA, Khare V, Ramirez G, Gillette S, Solis AB, Guo P, Coufal N, Cherqui S. PMID: 38420191; PMCID: PMC10899513.
      View in: PubMed   Mentions: 6  
    23. Intra-tumoral T cells in pediatric brain tumors display clonal expansion and effector properties. Nat Cancer. 2024 May; 5(5):791-807. Upadhye A, Meza Landeros KE, Ramírez-Suástegui C, Schmiedel BJ, Woo E, Chee SJ, Malicki D, Coufal NG, Gonda D, Levy ML, Greenbaum JA, Seumois G, Crawford J, Roberts WD, Schoenberger SP, Cheroutre H, Ottensmeier CH, Vijayanand P, Ganesan AP. PMID: 38228835; PMCID: PMC12496457.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    24. Application of cell-free plasma next-generation sequencing technology in the diagnosis and management of pediatric meningitis. J Microbiol Methods. 2024 Feb-Mar; 217-218:106887. Duster N, Ramchandar N, Foley J, Farnaes L, Coufal NG. PMID: 38169204.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    25. A maelstrom of migrating monocytes drives neurodegeneration. Immunity. 2023 12 12; 56(12):2677-2678. Coufal NG, Hermiston ML. PMID: 38091948.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    26. Gaps in diagnosing suspected infection in immunocompromised children with cancer: A systematic review. Pediatr Blood Cancer. 2024 Feb; 71(2):e30794. Park SY, Coufal NG, Dominguez SR, Farnaes L, Messacar K, Goldman FD. PMID: 38059641.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    27. Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma. Nat Genet. 2023 12; 55(12):2189-2199. Chapman OS, Luebeck J, Sridhar S, Wong IT, Dixit D, Wang S, Prasad G, Rajkumar U, Pagadala MS, Larson JD, He BJ, Hung KL, Lange JT, Dehkordi SR, Chandran S, Adam M, Morgan L, Wani S, Tiwari A, Guccione C, Lin Y, Dutta A, Lo YY, Juarez E, Robinson JT, Korshunov A, Michaels JA, Cho YJ, Malicki DM, Coufal NG, Levy ML, Hobbs C, Scheuermann RH, Crawford JR, Pomeroy SL, Rich JN, Zhang X, Chang HY, Dixon JR, Bagchi A, Deshpande AJ, Carter H, Fraenkel E, Mischel PS, Wechsler-Reya RJ, Bafna V, Mesirov JP, Chavez L. PMID: 37945900; PMCID: PMC10703696.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansCells
    28. Nicole G. Coufal. Neuron. 2023 11 01; 111(21):3361-3363. Coufal NG. PMID: 37918353.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    29. Human microglia maturation is underpinned by specific gene regulatory networks. Immunity. 2023 09 12; 56(9):2152-2171.e13. Han CZ, Li RZ, Hansen E, Trescott S, Fixsen BR, Nguyen CT, Mora CM, Spann NJ, Bennett HR, Poirion O, Buchanan J, Warden AS, Xia B, Schlachetzki JCM, Pasillas MP, Preissl S, Wang A, O'Connor C, Shriram S, Kim R, Schafer D, Ramirez G, Challacombe J, Anavim SA, Johnson A, Gupta M, Glass IA, Birth Defects Research Laboratory, Levy ML, Haim SB, Gonda DD, Laurent L, Hughes JF, Page DC, Blurton-Jones M, Glass CK, Coufal NG. PMID: 37582369; PMCID: PMC10529991.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansAnimalsCells
    30. SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity. Nat Immunol. 2023 07; 24(7):1188-1199. Fixsen BR, Han CZ, Zhou Y, Spann NJ, Saisan P, Shen Z, Balak C, Sakai M, Cobo I, Holtman IR, Warden AS, Ramirez G, Collier JG, Pasillas MP, Yu M, Hu R, Li B, Belhocine S, Gosselin D, Coufal NG, Ren B, Glass CK. PMID: 37322178; PMCID: PMC10307637.
      View in: PubMed   Mentions: 36     Fields:    Translation:AnimalsCells
    31. 3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nat Commun. 2023 04 21; 14(1):2300. Okonechnikov K, Camgöz A, Chapman O, Wani S, Park DE, Hübner JM, Chakraborty A, Pagadala M, Bump R, Chandran S, Kraft K, Acuna-Hidalgo R, Reid D, Sikkink K, Mauermann M, Juarez EF, Jenseit A, Robinson JT, Pajtler KW, Milde T, Jäger N, Fiesel P, Morgan L, Sridhar S, Coufal NG, Levy M, Malicki D, Hobbs C, Kingsmore S, Nahas S, Snuderl M, Crawford J, Wechsler-Reya RJ, Davidson TB, Cotter J, Michaiel G, Fleischhack G, Mundlos S, Schmitt A, Carter H, Michealraj KA, Kumar SA, Taylor MD, Rich J, Buchholz F, Mesirov JP, Pfister SM, Ay F, Dixon JR, Kool M, Chavez L. PMID: 37085539; PMCID: PMC10121654.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    32. Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system. Front Pediatr. 2023; 11:1157630. Allred ET, Perens EA, Coufal NG, Sanford Kobayashi E, Kingsmore SF, Dimmock DP. PMID: 36999085; PMCID: PMC10043482.
      View in: PubMed   Mentions: 6  
    33. Human microglial models to study host-virus interactions. Exp Neurol. 2023 05; 363:114375. McMillan RE, Wang E, Carlin AF, Coufal NG. PMID: 36907350; PMCID: PMC10521930.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    34. Dynamic activity in cis-regulatory elements of leukocytes identifies transcription factor activation and stratifies COVID-19 severity in ICU patients. Cell Rep Med. 2023 02 21; 4(2):100935. Lam MTY, Duttke SH, Odish MF, Le HD, Hansen EA, Nguyen CT, Trescott S, Kim R, Deota S, Chang MW, Patel A, Hepokoski M, Alotaibi M, Rolfsen M, Perofsky K, Warden AS, Foley J, Ramirez SI, Dan JM, Abbott RK, Crotty S, Crotty Alexander LE, Malhotra A, Panda S, Benner CW, Coufal NG. PMID: 36758547; PMCID: PMC9874047.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    35. Plasma enzymatic activity, proteomics and peptidomics in COVID-19-induced sepsis: A novel approach for the analysis of hemostasis. Front Mol Biosci. 2022; 9:1051471. Dos Santos F, Li JB, Juocys N, Mazor R, Beretta L, Coufal NG, Lam MTY, Odish MF, Irigoyen MC, O'Donoghue AJ, Aletti F, Kistler EB. PMID: 36710882; PMCID: PMC9874325.
      View in: PubMed   Mentions: 1  
    36. Rapid genome sequencing identifies novel variants in complement factor I. Cold Spring Harb Mol Case Stud. 2022 12; 8(7). Rodriguez KM, Vaught J, Dilley M, Ellsworth K, Heinen A, Abud EM, Zhang Y, Smith RJH, Sheets R, Geng B, Hoffman HM, Worthen HM, Dimmock D, Coufal NG. PMID: 36577522; PMCID: PMC9808552.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    37. Utilizing extracorporeal membrane oxygenation and surfactant in the management of severe acute respiratory distress syndrome due to hydrocarbon pneumonitis. Perfusion. 2024 04; 39(3):615-619. Rufener CR, Friedman NA, Vaught JE, Harvey HA, Coufal NG. PMID: 36548345; PMCID: PMC10943606.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    38. Plasma cell free next-generation sequencing detects an unusual pneumonia pathogen in an immunocompetent adolescent with acute respiratory distress syndrome. Front Pediatr. 2022; 10:1034632. Rodriguez KM, Ramchandar N, Coufal NG. PMID: 36545658; PMCID: PMC9760936.
      View in: PubMed   Mentions:
    39. Tools for studying human microglia: In vitro and in vivo strategies. Brain Behav Immun. 2023 01; 107:369-382. Warden AS, Han C, Hansen E, Trescott S, Nguyen C, Kim R, Schafer D, Johnson A, Wright M, Ramirez G, Lopez-Sanchez M, Coufal NG. PMID: 36336207; PMCID: PMC9810377.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    40. Predictors of successful discontinuation of continuous kidney replacement therapy in a pediatric cohort. Pediatr Nephrol. 2023 07; 38(7):2221-2231. Wei EY, Vuong KT, Lee E, Liu L, Ingulli E, Coufal NG. PMID: 36315275; PMCID: PMC10234862.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    41. An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases. Nat Commun. 2022 07 26; 13(1):4057. Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. PMID: 35882841; PMCID: PMC9325884.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    42. Absolute quantification of plasma mitochondrial DNA by droplet digital PCR marks COVID-19 severity over time during intensive care unit admissions. Am J Physiol Lung Cell Mol Physiol. 2022 07 01; 323(1):L84-L92. Hepokoski ML, Odish M, Lam MT, Coufal NG, Rolfsen ML, Shadel GS, Moyzis AG, Sainz AG, Takiar PG, Patel S, Leonard AJ, Samandari N, Hansen E, Trescott S, Nguyen C, Jepsen K, Cutter G, Gillespie MN, Spragg RG, Sasik R, Ix JH. PMID: 35699291; PMCID: PMC9273271.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    43. Correction to: Increased Peripheral Blood Neutrophil Activation Phenotypes and Neutrophil Extracellular Trap Formation in Critically Ill Coronavirus Disease 2019 Patients: A Case Series and Review of the Literature. Clin Infect Dis. 2022 May 30; 74(10):1889-1890. Masso-Silva JA, Moshensky A, Lam MTY, Odish M, Patel A, Xu L, Hansen E, Trescott S, Nguyen C, Kim R, Perofsky K, Perera S, Ma L, Pham J, Rolfsen M, Olay J, Shin J, Dan JM, Abbott R, Ramirez S, Alexander TH, Lin GY, Fuentes AL, Advani I, Gunge D, Pretorius V, Malhotra A, Sun X, Duran J, Hepokoski M, Crotty S, Coufal NG, Meier A, Crotty Alexander LE. PMID: 35416961; PMCID: PMC9327099.
      View in: PubMed   Mentions: 6     Fields:    
    44. Impact of Cell-Free Next-Generation Sequencing on Management of Pediatric Complicated Pneumonia. Hosp Pediatr. 2022 04 01; 12(4):377-384. Dworsky ZD, Lee B, Ramchandar N, Rungvivatjarus T, Coufal NG, Bradley JS. PMID: 35233619.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    45. Peripheral IV Administration of Hypertonic Saline: Single-Center Retrospective PICU Study. Pediatr Crit Care Med. 2022 04 01; 23(4):277-285. Pohl CE, Harvey H, Foley J, Lee E, Xu R, O'Brien NF, Coufal NG. PMID: 35180199; PMCID: PMC9743976.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    46. Increased Peripheral Blood Neutrophil Activation Phenotypes and Neutrophil Extracellular Trap Formation in Critically Ill Coronavirus Disease 2019 (COVID-19) Patients: A Case Series and Review of the Literature. Clin Infect Dis. 2022 02 11; 74(3):479-489. Masso-Silva JA, Moshensky A, Lam MTY, Odish MF, Patel A, Xu L, Hansen E, Trescott S, Nguyen C, Kim R, Perofsky K, Perera S, Ma L, Pham J, Rolfsen M, Olay J, Shin J, Dan JM, Abbott RK, Ramirez S, Alexander TH, Lin GY, Fuentes AL, Advani I, Gunge D, Pretorius V, Malhotra A, Sun X, Duran J, Hepokoski M, Crotty S, Coufal NG, Meier A, Crotty Alexander LE. PMID: 33988226; PMCID: PMC8241438.
      View in: PubMed   Mentions: 71     Fields:    Translation:HumansCells
    47. Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit. Front Pediatr. 2021; 9:809536. Sanford Kobayashi E, Waldman B, Engorn BM, Perofsky K, Allred E, Briggs B, Gatcliffe C, Ramchandar N, Gold JJ, Doshi A, Ingulli EG, Thornburg CD, Benson W, Farnaes L, Chowdhury S, Rego S, Hobbs C, Kingsmore SF, Dimmock DP, Coufal NG. PMID: 35141181; PMCID: PMC8818891.
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    48. Hemorrhagic Transformation Following Childhood Cardioembolic Stroke Is Not Increased in Anticoagulated Patients. J Child Neurol. 2022 03; 37(4):273-280. Ko PY, Khalatbari H, Hatt D, Coufal N, Barry D, Wainwright MS, Khanna PC, Amlie-Lefond C. PMID: 35021919.
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    49. Profiling Transcription Initiation in Peripheral Leukocytes Reveals Severity-Associated Cis-Regulatory Elements in Critical COVID-19. bioRxiv. 2021 Aug 24. Lam MTY, Duttke SH, Odish MF, Le HD, Hansen EA, Nguyen CT, Trescott S, Kim R, Deota S, Chang MW, Patel A, Hepokoski M, Alotaibi M, Rolfsen M, Perofsky K, Warden AS, Foley J, Ramirez SI, Dan JM, Abbott RK, Crotty S, Crotty Alexander LE, Malhotra A, Panda S, Benner CW, Coufal NG. PMID: 34462742; PMCID: PMC8404884.
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    50. Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections. Open Forum Infect Dis. 2021 Jul; 8(7):ofab346. Ramchandar N, Burns J, Coufal NG, Pennock A, Briggs B, Stinnett R, Bradley J, Arnold J, Liu GY, Pring M, Upasani VV, Rickert K, Dimmock D, Chiu C, Farnaes L, Cannavino C. PMID: 34322569; PMCID: PMC8314938.
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    51. Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children's hospital. BMC Infect Dis. 2021 Jun 11; 21(1):552. Wilke J, Ramchandar N, Cannavino C, Pong A, Tremoulet A, Padua LT, Harvey H, Foley J, Farnaes L, Coufal NG. PMID: 34112116; PMCID: PMC8192220.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    52. Use of Plasma Metagenomic Next-generation Sequencing for Pathogen Identification in Pediatric Endocarditis. Pediatr Infect Dis J. 2021 05 01; 40(5):486-488. To RK, Ramchandar N, Gupta A, Pong A, Cannavino C, Foley J, Farnaes L, Coufal NG. PMID: 33410648.
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    53. The Utility of Infectious and Neurodiagnostic Testing in Children With Complex Febrile Seizures Requiring Mechanical Ventilation. J Child Neurol. 2021 08; 36(9):735-742. Yang JH, Villegas R, Khanna S, Kaswick J, Coufal NG, Crawford J, Harvey H. PMID: 33754870.
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    54. Contemporary management of pediatric open skull fractures: a multicenter pediatric trauma center study. J Neurosurg Pediatr. 2021 05 01; 27(5):533-537. McFall C, Beier AD, Hayward K, Alberto EC, Burd RS, Farr BJ, Mooney DP, Gee K, Upperman JS, Escobar MA, Coufal NG, Harvey HA, Gollin G. PMID: 33711805.
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    55. Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections. Open Forum Infect Dis. 2021 Jun; 8(6):ofab104. Ramchandar N, Coufal NG, Warden AS, Briggs B, Schwarz T, Stinnett R, Xie H, Schlaberg R, Foley J, Clarke C, Waldeman B, Enriquez C, Osborne S, Arrieta A, Salyakina D, Janvier M, Sendi P, Totapally BR, Dimmock D, Farnaes L. PMID: 34104666; PMCID: PMC8180245.
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    56. Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive population. Pediatr Pulmonol. 2021 02; 56(2):516-524. Gatcliffe C, Rao A, Brigger M, Dimmock D, Hansen C, Montgomery J, Schlaberg R, Coufal NG, Farnaes L. PMID: 33270378.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    57. Brain cell type-specific enhancer-promoter interactome maps and disease-risk association. Science. 2019 11 29; 366(6469):1134-1139. Nott A, Holtman IR, Coufal NG, Schlachetzki JCM, Yu M, Hu R, Han CZ, Pena M, Xiao J, Wu Y, Keulen Z, Pasillas MP, O'Connor C, Nickl CK, Schafer ST, Shen Z, Rissman RA, Brewer JB, Gosselin D, Gonda DD, Levy ML, Rosenfeld MG, McVicker G, Gage FH, Ren B, Glass CK. PMID: 31727856; PMCID: PMC7028213.
      View in: PubMed   Mentions: 428     Fields:    Translation:HumansCells
    58. Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU. Pediatr Crit Care Med. 2019 11; 20(11):1007-1020. Sanford EF, Clark MM, Farnaes L, Williams MR, Perry JC, Ingulli EG, Sweeney NM, Doshi A, Gold JJ, Briggs B, Bainbridge MN, Feddock M, Watkins K, Chowdhury S, Nahas SA, Dimmock DP, Kingsmore SF, Coufal NG, RCIGM Investigators. PMID: 31246743; PMCID: PMC6832787.
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    59. Neonatal diabetes mellitus due to a novel variant in the INS gene. Cold Spring Harb Mol Case Stud. 2019 08; 5(4). Laurenzano SE, McFall C, Nguyen L, Savla D, Coufal NG, Wright MS, Tokita M, Dimmock D, Kingsmore SF, Newfield RS. PMID: 31196892; PMCID: PMC6672029.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    60. Development of a Chimeric Model to Study and Manipulate Human Microglia In Vivo. Neuron. 2019 09 25; 103(6):1016-1033.e10. Hasselmann J, Coburn MA, England W, Figueroa Velez DX, Kiani Shabestari S, Tu CH, McQuade A, Kolahdouzan M, Echeverria K, Claes C, Nakayama T, Azevedo R, Coufal NG, Han CZ, Cummings BJ, Davtyan H, Glass CK, Healy LM, Gandhi SP, Spitale RC, Blurton-Jones M. PMID: 31375314; PMCID: PMC7138101.
      View in: PubMed   Mentions: 206     Fields:    Translation:HumansAnimalsCells
    61. Vaccine Strain Varicella Infection in an Infant With Previously Undiagnosed Perinatal Human Immunodeficiency Type-1 Infection. Pediatr Infect Dis J. 2019 04; 38(4):413-415. Farnaes L, Coufal NG, Spector SA. PMID: 30882735.
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    62. Community-acquired pneumonia in children: cell-free plasma sequencing for diagnosis and management. Diagn Microbiol Infect Dis. 2019 Jun; 94(2):188-191. Farnaes L, Wilke J, Ryan Loker K, Bradley JS, Cannavino CR, Hong DK, Pong A, Foley J, Coufal NG. PMID: 30819624; PMCID: PMC7125591.
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    63. Paediatric pulmonary hypertension caused by an ACVRL1 mutation presenting as Ortner syndrome. Cardiol Young. 2018 Dec; 28(12):1475-1476. Alsheikh B, Aljohani O, Coufal NG. PMID: 30303062; PMCID: PMC6237639.
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    64. Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1. Cold Spring Harb Mol Case Stud. 2018 06; 4(3). Sanford E, Watkins K, Nahas S, Gottschalk M, Coufal NG, Farnaes L, Dimmock D, Kingsmore SF, RCIGM Investigators. PMID: 29437776; PMCID: PMC5983174.
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    65. Encephalitis and Thalamic Injury From Neuroinvasive West Nile Virus in Children on Treatment for Acute Lymphoblastic Leukemia. Pediatr Neurol. 2018 03; 80:84-87. Farnaes L, Schiff D, McElroy AK, Coufal NG, Crawford JR, Cannavino C. PMID: 29398166.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    66. An environment-dependent transcriptional network specifies human microglia identity. Science. 2017 06 23; 356(6344). Gosselin D, Skola D, Coufal NG, Holtman IR, Schlachetzki JCM, Sajti E, Jaeger BN, O'Connor C, Fitzpatrick C, Pasillas MP, Pena M, Adair A, Gonda DD, Levy ML, Ransohoff RM, Gage FH, Glass CK. PMID: 28546318; PMCID: PMC5858585.
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    67. Primary cilia in the developing and mature brain. Neuron. 2014 May 07; 82(3):511-21. Guemez-Gamboa A, Coufal NG, Gleeson JG. PMID: 24811376; PMCID: PMC4104280.
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    68. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014 Apr 24; 157(3):651-63. Schaffer AE, Eggens VR, Caglayan AO, Reuter MS, Scott E, Coufal NG, Silhavy JL, Xue Y, Kayserili H, Yasuno K, Rosti RO, Abdellateef M, Caglar C, Kasher PR, Cazemier JL, Weterman MA, Cantagrel V, Cai N, Zweier C, Altunoglu U, Satkin NB, Aktar F, Tuysuz B, Yalcinkaya C, Caksen H, Bilguvar K, Fu XD, Trotta CR, Gabriel S, Reis A, Gunel M, Baas F, Gleeson JG. PMID: 24766810; PMCID: PMC4128918.
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    69. Napyradiomycin derivatives, produced by a marine-derived actinomycete, illustrate cytotoxicity by induction of apoptosis. J Nat Prod. 2014 Jan 24; 77(1):15-21. Farnaes L, Coufal NG, Kauffman CA, Rheingold AL, DiPasquale AG, Jensen PR, Fenical W. PMID: 24328269; PMCID: PMC3913167.
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    70. Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells. Proc Natl Acad Sci U S A. 2011 Dec 20; 108(51):20382-7. Coufal NG, Garcia-Perez JL, Peng GE, Marchetto MC, Muotri AR, Mu Y, Carson CT, Macia A, Moran JV, Gage FH. PMID: 22159035; PMCID: PMC3251057.
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    71. Gastric trichobezoar causing intermittent small bowel obstruction: report of a case and review of the literature. Case Rep Med. 2011; 2011:217570. Coufal NG, Kansagra AP, Doucet J, Lee J, Coimbra R, Bansal V. PMID: 21687591; PMCID: PMC3114431.
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    72. L1 retrotransposition in neurons is modulated by MeCP2. Nature. 2010 Nov 18; 468(7322):443-6. Muotri AR, Marchetto MC, Coufal NG, Oefner R, Yeo G, Nakashima K, Gage FH. PMID: 21085180; PMCID: PMC3059197.
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    73. LINE-1 retrotransposons: mediators of somatic variation in neuronal genomes? Trends Neurosci. 2010 Aug; 33(8):345-54. Singer T, McConnell MJ, Marchetto MC, Coufal NG, Gage FH. PMID: 20471112; PMCID: PMC2916067.
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    74. L1 retrotransposition in human neural progenitor cells. Nature. 2009 Aug 27; 460(7259):1127-31. Coufal NG, Garcia-Perez JL, Peng GE, Yeo GW, Mu Y, Lovci MT, Morell M, O'Shea KS, Moran JV, Gage FH. PMID: 19657334; PMCID: PMC2909034.
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    75. An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells. Nat Struct Mol Biol. 2009 Feb; 16(2):130-7. Yeo GW, Coufal NG, Liang TY, Peng GE, Fu XD, Gage FH. PMID: 19136955; PMCID: PMC2735254.
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    76. Multiple layers of molecular controls modulate self-renewal and neuronal lineage specification of embryonic stem cells. Hum Mol Genet. 2008 Apr 15; 17(R1):R67-75. Yeo GW, Coufal N, Aigner S, Winner B, Scolnick JA, Marchetto MC, Muotri AR, Carson C, Gage FH. PMID: 18632700.
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    77. The necessary junk: new functions for transposable elements. Hum Mol Genet. 2007 Oct 15; 16 Spec No. 2:R159-67. Muotri AR, Marchetto MC, Coufal NG, Gage FH. PMID: 17911158.
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    78. Alternative splicing events identified in human embryonic stem cells and neural progenitors. PLoS Comput Biol. 2007 Oct; 3(10):1951-67. Yeo GW, Xu X, Liang TY, Muotri AR, Carson CT, Coufal NG, Gage FH. PMID: 17967047; PMCID: PMC2041973.
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    79. LINE-1 retrotransposition in human embryonic stem cells. Hum Mol Genet. 2007 Jul 01; 16(13):1569-77. Garcia-Perez JL, Marchetto MC, Muotri AR, Coufal NG, Gage FH, O'Shea KS, Moran JV. PMID: 17468180.
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    80. Regulatable acetylcholine-producing fibroblasts enhance cognitive performance. Mol Ther. 2006 Jan; 13(1):175-82. Pizzo DP, Coufal NG, Lortie MJ, Gage FH, Thal LJ. PMID: 16185935.
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    81. Targeting BACE1 with siRNAs ameliorates Alzheimer disease neuropathology in a transgenic model. Nat Neurosci. 2005 Oct; 8(10):1343-9. Singer O, Marr RA, Rockenstein E, Crews L, Coufal NG, Gage FH, Verma IM, Masliah E. PMID: 16136043.
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    82. Long-term production of choline acetyltransferase in the CNS after transplantation of fibroblasts modified with a regulatable vector. Brain Res Mol Brain Res. 2004 Jul 05; 126(1):1-13. Pizzo DP, Paban V, Coufal NG, Gage FH, Thal LJ. PMID: 15207910.
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    83. Choline transporter 1 maintains cholinergic function in choline acetyltransferase haploinsufficiency. J Neurosci. 2004 Jun 16; 24(24):5459-66. Brandon EP, Mellott T, Pizzo DP, Coufal N, D'Amour KA, Gobeske K, Lortie M, López-Coviella I, Berse B, Thal LJ, Gage FH, Blusztajn JK. PMID: 15201317; PMCID: PMC6729318.
      View in: PubMed   Mentions: 39     Fields:    Translation:AnimalsCells
    84. Enhanced locomotor, reinforcing, and neurochemical effects of cocaine in serotonin 5-hydroxytryptamine 2C receptor mutant mice. J Neurosci. 2002 Nov 15; 22(22):10039-45. Rocha BA, Goulding EH, O'Dell LE, Mead AN, Coufal NG, Parsons LH, Tecott LH. PMID: 12427861; PMCID: PMC6757823.
      View in: PubMed   Mentions: 55     Fields:    Translation:Animals

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