Nicole Coufal

Title(s)Associate Adjunct 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 Overview 

    Collapse Research 
    Collapse Research Activities and Funding
    Microglial contribution to Down Syndrome Neuropathology
    NINDS NS126452Jan 1, 2023 - Dec 31, 2027
    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 ORNG Applications 
    Collapse Faculty Mentoring

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    Collapse Twitter

    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. The inactive X chromosome drives sex differences in microglial inflammatory activity in human glioblastoma. bioRxiv. 2024 Jun 06. Tharp ME, Han CZ, Balak CD, Fitzpatrick C, O'Connor C, Preissl S, Buchanan J, Nott A, Escoubet L, Mavrommatis K, Gupta M, Schwartz MS, Sang UH, 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:
    2. Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia. Life Sci Alliance. 2024 Aug; 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:    Fields:    Translation:Humans
    3. Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023. Pediatr Crit Care Med. 2024 Apr 26. 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.
      View in: PubMed   Mentions:    Fields:    
    4. 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:    Fields:    Translation:HumansAnimalsCells
    5. Emerging Role of Plasma Microbial Cell-free DNA in the Diagnosis of Pediatric Mucormycosis. Pediatr Infect Dis J. 2024 Mar 18. Gracia M, Hadley E, Ramchandar N, Coufal NG. PMID: 38502901.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. 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: 1  
    7. Intra-tumoral T cells in pediatric brain tumors display clonal expansion and effector properties. Nat Cancer. 2024 Jan 16. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    8. 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:    Fields:    Translation:Humans
    9. A maelstrom of migrating monocytes drives neurodegeneration. Immunity. 2023 Dec 12; 56(12):2677-2678. Coufal NG, Hermiston ML. PMID: 38091948.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    10. 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:    Fields:    Translation:Humans
    11. Circular extrachromosomal DNA promotes tumor heterogeneity in high-risk medulloblastoma. Nat Genet. 2023 Dec; 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:    Fields:    Translation:HumansCells
    12. Nicole G. Coufal. Neuron. 2023 11 01; 111(21):3361-3363. Coufal NG. PMID: 37918353.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. 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: 5     Fields:    Translation:HumansAnimalsCells
    14. 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: 3     Fields:    Translation:AnimalsCells
    15. 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: 1     Fields:    Translation:HumansCells
    16. 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: 2  
    17. 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: 3     Fields:    Translation:HumansAnimalsCells
    18. 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: 2     Fields:    Translation:HumansCells
    19. 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:
    20. 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:    Fields:    Translation:Humans
    21. Utilizing extracorporeal membrane oxygenation and surfactant in the management of severe acute respiratory distress syndrome due to hydrocarbon pneumonitis. Perfusion. 2024 Apr; 39(3):615-619. Rufener CR, Friedman NA, Vaught JE, Harvey HA, Coufal NG. PMID: 36548345; PMCID: PMC10943606.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    22. 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:
    23. 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: 4     Fields:    Translation:Humans
    24. 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: 1     Fields:    Translation:Humans
    25. 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, 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: 21     Fields:    Translation:Humans
    26. 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: 8     Fields:    Translation:Humans
    27. 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: 4     Fields:    
    28. 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: 2     Fields:    Translation:Humans
    29. 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
    30. 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: 68     Fields:    Translation:HumansCells
    31. 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.
      View in: PubMed   Mentions: 12  
    32. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    33. 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.
      View in: PubMed   Mentions: 3  
    34. 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.
      View in: PubMed   Mentions: 9  
    35. 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: 7     Fields:    Translation:Humans
    36. 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.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    37. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    38. Contemporary management of pediatric open skull fractures: a multicenter pediatric trauma center study. J Neurosurg Pediatr. 2021 Mar 12; 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    39. 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.
      View in: PubMed   Mentions: 13  
    40. 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: 1     Fields:    Translation:Humans
    41. 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: 266     Fields:    Translation:HumansCells
    42. 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.
      View in: PubMed   Mentions: 58     Fields:    Translation:Humans
    43. 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: 1     Fields:    Translation:Humans
    44. 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: 116     Fields:    Translation:HumansAnimalsCells
    45. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    46. 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.
      View in: PubMed   Mentions: 24     Fields:    Translation:HumansCells
    47. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    48. 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.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    49. 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
    50. 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.
      View in: PubMed   Mentions: 477     Fields:    Translation:HumansAnimalsCells
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    67. 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.
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    68. 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.
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