Nicole Coufal

Title(s)Assistant 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
    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 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.
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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. 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.
      View in: PubMed   Mentions:
    2. 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.
      View in: PubMed   Mentions:
    3. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    4. Increased peripheral blood neutrophil activation phenotypes and NETosis in critically ill COVID-19 patients: a case series and review of the literature. Clin Infect Dis. 2021 May 14. 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, Alexander LEC. PMID: 33988226.
      View in: PubMed   Mentions: 1     Fields:    
    5. 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:    Fields:    
    6. The Utility of Infectious and Neurodiagnostic Testing in Children With Complex Febrile Seizures Requiring Mechanical Ventilation. J Child Neurol. 2021 Aug; 36(9):735-742. Yang JH, Villegas R, Khanna S, Kaswick J, Coufal NG, Crawford J, Harvey H. PMID: 33754870.
      View in: PubMed   Mentions:    Fields:    
    7. Contemporary management of pediatric open skull fractures: a multicenter pediatric trauma center study. J Neurosurg Pediatr. 2021 Mar 12; 1-5. 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:    
    8. 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.
      View in: PubMed   Mentions:
    9. 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:    Fields:    Translation:Humans
    10. 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.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansCells
    11. 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.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    12. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. 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.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansAnimalsCells
    14. 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
    15. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    16. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    18. 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: 2     Fields:    Translation:HumansCells
    19. 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.
      View in: PubMed   Mentions: 243     Fields:    Translation:HumansAnimalsCells
    20. 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.
      View in: PubMed   Mentions: 85     Fields:    Translation:HumansAnimalsCells
    21. 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.
      View in: PubMed   Mentions: 99     Fields:    Translation:HumansAnimalsCells
    22. 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.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    23. 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.
      View in: PubMed   Mentions: 99     Fields:    Translation:HumansAnimalsCells
    24. 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.
      View in: PubMed   Mentions:
    25. 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.
      View in: PubMed   Mentions: 275     Fields:    Translation:HumansAnimalsCells
    26. 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.
      View in: PubMed   Mentions: 117     Fields:    Translation:HumansCells
    27. 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.
      View in: PubMed   Mentions: 358     Fields:    Translation:HumansCells
    28. 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.
      View in: PubMed   Mentions: 291     Fields:    Translation:HumansCells
    29. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    30. 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.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimalsCells
    31. 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.
      View in: PubMed   Mentions: 68     Fields:    Translation:HumansCells
    32. 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.
      View in: PubMed   Mentions: 111     Fields:    Translation:HumansCells
    33. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:AnimalsCells
    34. 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.
      View in: PubMed   Mentions: 142     Fields:    Translation:HumansAnimalsCells
    35. 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.
      View in: PubMed   Mentions:    Fields:    Translation:AnimalsCells
    36. 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.
      View in: PubMed   Mentions: 33     Fields:    Translation:AnimalsCells
    37. 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.
      View in: PubMed   Mentions: 46     Fields:    Translation:Animals
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