Pediatric Pulmonary Hypertension caused by an ACVRL1 mutation presenting as Ortner Syndrome

Autor Alsheikh, Batool, Aljohani, Othman, Coufal, Nicole G.
Vydáno v Cardiol Young (2018)

Primary cilia in the developing and mature brain

Autor Guemez-Gamboa, Alicia, Coufal, Nicole G., Gleeson, Joseph G.
Vydáno 2014

Gastric Trichobezoar Causing Intermittent Small Bowel Obstruction: Report of a Case and Review of the Literature

Autor Coufal, Nicole G., Kansagra, Akash P., Doucet, Jay, Lee, Jeanne, Coimbra, Raul, Bansal, Vishal
Vydáno 2011

LINE-1 Retrotransposons: Mediators of Somatic Variation in Neuronal Genomes?

Autor Singer, Tatjana, McConnell, Michael J., Marchetto, Maria C.N., Coufal, Nicole G., Gage, Fred H.
Vydáno 2010

An RNA code for the FOX2 splicing regulator revealed by mapping RNA-protein interactions in stem cells

Autor Yeo, Gene W, Coufal, Nicole G, Liang, Tiffany Y, Peng, Grace E, Fu, Xiang-Dong, Gage, Fred H
Vydáno 2009

Rapid whole-genome sequencing identifies a novel AIRE variant associated with autoimmune polyendocrine syndrome type 1

Autor Sanford, Erica, Watkins, Kelly, Nahas, Shareef, Gottschalk, Michael, Coufal, Nicole G., Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Vydáno v Cold Spring Harb Mol Case Stud (2018)

Alternative Splicing Events Identified in Human Embryonic Stem Cells and Neural Progenitors

Autor Yeo, Gene W, Xu, Xiangdong, Liang, Tiffany Y, Muotri, Alysson R, Carson, Christian T, Coufal, Nicole G, Gage, Fred H
Vydáno 2007

L1 retrotransposition in neurons is modulated by MeCP2

Autor Muotri, Alysson R., Marchetto, Maria C. N., Coufal, Nicole G., Oefner, Ruth, Yeo, Gene, Nakashima, Kinichi, Gage, Fred H.
Vydáno 2010

Napyradiomycin Derivatives, Produced by a Marine-Derived Actinomycete, Illustrate Cytotoxicity by Induction of Apoptosis

Autor Farnaes, Lauge, Coufal, Nicole G., Kauffman, Christopher A., Rheingold, Arnold L., DiPasquale, Antonio G., Jensen, Paul R., Fenical, William
Vydáno 2013

Enhanced Locomotor, Reinforcing, and Neurochemical Effects of Cocaine in Serotonin 5-Hydroxytryptamine 2C Receptor Mutant Mice

Autor Rocha, Beatriz A., Goulding, Evan H., O'Dell, Laura E., Mead, Andy N., Coufal, Nicole G., Parsons, Loren H., Tecott, Laurence H.
Vydáno v J Neurosci (2002)

Community-acquired pneumonia in children: cell-free plasma sequencing for diagnosis and management()()()

Autor Farnaes, Lauge, Wilke, Julianne, Ryan Loker, Kathleen, Bradley, John S., Cannavino, Christopher R., Hong, David K., Pong, Alice, Foley, Jennifer, Coufal, Nicole G.
Vydáno v Diagn Microbiol Infect Dis (2019)

Clinical application of cell-free next-generation sequencing for infectious diseases at a tertiary children’s hospital

Autor Wilke, Julianne, Ramchandar, Nanda, Cannavino, Christopher, Pong, Alice, Tremoulet, Adriana, Padua, Leidy Tovar, Harvey, Helen, Foley, Jennifer, Farnaes, Lauge, Coufal, Nicole G.
Vydáno v BMC Infect Dis (2021)

Neonatal diabetes mellitus due to a novel variant in the INS gene

Autor Laurenzano, Sarah E., McFall, Cory, Nguyen, Linda, Savla, Dipal, Coufal, Nicole G., Wright, Meredith S., Tokita, Mari, Dimmock, David, Kingsmore, Stephen F., Newfield, Ron S.
Vydáno v Cold Spring Harb Mol Case Stud (2019)

L1 Retrotransposition in Human Neural Progenitor Cells

Autor Coufal, Nicole G, Garcia-Perez, José L, Peng, Grace E, Yeo, Gene W, Mu, Yangling, Lovci, Michael T, Morell, Maria, O'Shea, K. Sue, Moran, John V, Gage, Fred H
Vydáno 2009

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

Autor Coufal, Nicole G., Garcia-Perez, Josè Luis, Peng, Grace E., Marchetto, Maria C. N., Muotri, Alysson R., Mu, Yangling, Carson, Christian T., Macia, Angela, Moran, John V., Gage, Fred H.
Vydáno 2011

Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections

Autor Ramchandar, Nanda, Burns, Jessica, Coufal, Nicole G, Pennock, Andrew, Briggs, Benjamin, Stinnett, Rita, Bradley, John, Arnold, John, Liu, George Y, Pring, Maya, Upasani, Vidyadhar V, Rickert, Kathleen, Dimmock, David, Chiu, Charles, Farnaes, Lauge, Cannavino, Christopher
Vydáno v Open Forum Infect Dis (2021)

Metagenomic Next-Generation Sequencing for Pathogen Detection and Transcriptomic Analysis in Pediatric Central Nervous System Infections

Autor Ramchandar, Nanda, Coufal, Nicole G, Warden, Anna S, Briggs, Benjamin, Schwarz, Toni, Stinnett, Rita, Xie, Heng, Schlaberg, Robert, Foley, Jennifer, Clarke, Christina, Waldeman, Bryce, Enriquez, Claudia, Osborne, Stephanie, Arrieta, Antonio, Salyakina, Daria, Janvier, Michelin, Sendi, Prithvi, Totapally, Balagangadhar R, Dimmock, David, Farnaes, Lauge
Vydáno v Open Forum Infect Dis (2021)

An environment-dependent transcriptional network specifies human microglia identity

Autor Gosselin, David, Skola, Dylan, Coufal, Nicole G., Holtman, Inge R., Schlachetzki, Johannes C.M., Sajti, Eniko, Jaeger, Baptiste N., O’Connor, Carolyn, Fitzpatrick, Conor, Pasillas, Martina P., Pena, Monique, Adair, Amy, Gonda, David G., Levy, Michael L., Ransohoff, Richard M., Gage, Fred H., Glass, Christopher K.
Vydáno v Science (2017)

Rapid whole genome sequencing has clinical utility in children in the pediatric intensive care unit

Autor Sanford, Erica F., Clark, Michelle M., Farnaes, Lauge, Williams, Matthew R., Perry, James C., Ingulli, Elizabeth G., Sweeney, Nathaly M., Doshi, Ami, Gold, Jeffrey J., Briggs, Benjamin, Bainbridge, Matthew N., Feddock, Michele, Watkins, Kelly, Chowdhury, Shimul, Nahas, Shareef A., Dimmock, David P., Kingsmore, Stephen F., Coufal, Nicole G.
Vydáno v Pediatr Crit Care Med (2019)

Development of a chimeric model to study and manipulate human microglia in vivo

Autor Hasselmann, Jonathan, Coburn, Morgan A., England, Whitney, Velez, Dario X. Figueroa, Shabestari, Sepideh Kiani, Tu, Christina H., McQuade, Amanda, Kolahdouzan, Mahshad, Echeverria, Karla, Claes, Christel, Nakayama, Taylor, Azevedo, Ricardo, Coufal, Nicole G., Han, Claudia Z., Cummings, Brian J., Davtyan, Hayk, Glass, Christopher K., Healy, Luke M., Gandhi, Sunil P., Spitale, Robert C., Blurton-Jones, Mathew
Vydáno v Neuron (2019)