Plasma cell free next-generation sequencing detects an unusual pneumonia pathogen in an immunocompetent adolescent with acute respiratory distress syndrome

por Rodriguez, Katherine M., Ramchandar, Nanda, Coufal, Nicole G.
Publicado 2022

Predictors of successful discontinuation of continuous kidney replacement therapy in a pediatric cohort

por Wei, Elizabeth Y., Vuong, Kim T., Lee, Euyhyun, Liu, Lin, Ingulli, Elizabeth, Coufal, Nicole G.
Publicado 2022

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

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

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system

por Allred, Erika T., Perens, Elliot A., Coufal, Nicole G., Sanford Kobayashi, Erica, Kingsmore, Stephen F., Dimmock, David P.
Publicado 2023

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

por Sanford, Erica, Watkins, Kelly, Nahas, Shareef, Gottschalk, Michael, Coufal, Nicole G., Farnaes, Lauge, Dimmock, David, Kingsmore, Stephen F.
Publicado 2018

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

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

L1 retrotransposition in neurons is modulated by MeCP2

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

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

por Farnaes, Lauge, Wilke, Julianne, Ryan Loker, Kathleen, Bradley, John S., Cannavino, Christopher R., Hong, David K., Pong, Alice, Foley, Jennifer, Coufal, Nicole G.
Publicado 2019

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

por Wilke, Julianne, Ramchandar, Nanda, Cannavino, Christopher, Pong, Alice, Tremoulet, Adriana, Padua, Leidy Tovar, Harvey, Helen, Foley, Jennifer, Farnaes, Lauge, Coufal, Nicole G.
Publicado 2021

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

por 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.
Publicado 2019

Plasma enzymatic activity, proteomics and peptidomics in COVID-19-induced sepsis: A novel approach for the analysis of hemostasis

por Dos Santos, Fernando, Li, Joyce B., Juocys, Nathalia, Mazor, Rafi, Beretta, Laura, Coufal, Nicole G., Lam, Michael T. Y., Odish, Mazen F., Irigoyen, Maria Claudia, O’Donoghue, Anthony J., Aletti, Federico, Kistler, Erik B.
Publicado 2023

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

por 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
Publicado 2021

Rapid genome sequencing identifies novel variants in complement factor I

por Rodriguez, Katherine M., Vaught, Jordan, Dilley, Michelle, Ellsworth, Kataryzna, Heinen, Alaina, Abud, Edsel M., Zhang, Yuzhou, Smith, Richard J.H., Sheets, Robert, Geng, Bob, Hoffman, Hal M., Worthen, H. Michael, Dimmock, David, Coufal, Nicole G.
Publicado 2022

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

por 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
Publicado 2021

Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

por Sanford Kobayashi, Erica, Waldman, Bryce, Engorn, Branden M., Perofsky, Katherine, Allred, Erika, Briggs, Benjamin, Gatcliffe, Chelsea, Ramchandar, Nanda, Gold, Jeffrey J., Doshi, Ami, Ingulli, Elizabeth G., Thornburg, Courtney D., Benson, Wendy, Farnaes, Lauge, Chowdhury, Shimul, Rego, Seema, Hobbs, Charlotte, Kingsmore, Stephen F., Dimmock, David P., Coufal, Nicole G.
Publicado 2022

SALL1 enforces microglia-specific DNA binding and function of SMADs to establish microglia identity

por Fixsen, Bethany R., Han, Claudia Z., Zhou, Yi, Spann, Nathanael J., Saisan, Payam, Shen, Zeyang, Balak, Christopher, Sakai, Mashito, Cobo, Isidoro, Holtman, Inge R., Warden, Anna S., Ramirez, Gabriela, Collier, Jana G., Pasillas, Martina P., Yu, Miao, Hu, Rong, Li, Bin, Belhocine, Sarah, Gosselin, David, Coufal, Nicole G., Ren, Bing, Glass, Christopher K.
Publicado 2023

Profiling Transcription Initiation in Peripheral Leukocytes Reveals Severity-Associated Cis-Regulatory Elements in Critical COVID-19

por Lam, Michael Tun Yin, Duttke, Sascha H., Odish, Mazen F., Le, Hiep D., Hansen, Emily A., Nguyen, Celina T., Trescott, Samantha, Kim, Roy, Deota, Shaunak, Chang, Max W., Patel, Arjun, Hepokoski, Mark, Alotaibi, Mona, Rolfsen, Mark, Perofsky, Katherine, Warden, Anna S., Foley, Jennifer, Ramirez, Sydney I, Dan, Jennifer M., Abbott, Robert K, Crotty, Shane, Crotty Alexander, Laura E, Malhotra, Atul, Panda, Satchidananda, Benner, Christopher W., Coufal, Nicole G.
Publicado 2021

Dynamic activity in cis-regulatory elements of leukocytes identifies transcription factor activation and stratifies COVID-19 severity in ICU patients

por Lam, Michael Tun Yin, Duttke, Sascha H., Odish, Mazen F., Le, Hiep D., Hansen, Emily A., Nguyen, Celina T., Trescott, Samantha, Kim, Roy, Deota, Shaunak, Chang, Max W., Patel, Arjun, Hepokoski, Mark, Alotaibi, Mona, Rolfsen, Mark, Perofsky, Katherine, Warden, Anna S., Foley, Jennifer, Ramirez, Sydney I., Dan, Jennifer M., Abbott, Robert K., Crotty, Shane, Crotty Alexander, Laura E., Malhotra, Atul, Panda, Satchidananda, Benner, Christopher W., Coufal, Nicole G.
Publicado 2023

Correction to: Increased Peripheral Blood Neutrophil Activation Phenotypes and Neutrophil Extracellular Trap Formation in Critically Ill Coronavirus Disease 2019 Patients: A Case S...

por Masso-Silva, Jorge A, Moshensky, Alexander, Lam, Michael T Y, Odish, Mazen, Patel, Arjun, Xu, Le, Hansen, Emily, Trescott, Samantha, Nguyen, Celina, Kim, Roy, Perofsky, Katherine, Perera, Samantha, Ma, Lauren, Pham, Josephine, Rolfsen, Mark, Olay, Jarod, Shin, John, Dan, Jennifer M, Abbott, Robert, Ramirez, Sydney, Alexander, Thomas H, Lin, Grace Y, Fuentes, Ana Lucia, Advani, Ira, Gunge, Deepti, Pretorius, Victor, Malhotra, Atul, Sun, Xin, Duran, Jason, Hepokoski, Mark, Crotty, Shane, Coufal, Nicole G, Meier, Angela, Crotty Alexander, Laura E
Publicado 2022

3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma

por Okonechnikov, Konstantin, Camgöz, Aylin, Chapman, Owen, Wani, Sameena, Park, Donglim Esther, Hübner, Jens-Martin, Chakraborty, Abhijit, Pagadala, Meghana, Bump, Rosalind, Chandran, Sahaana, Kraft, Katerina, Acuna-Hidalgo, Rocio, Reid, Derek, Sikkink, Kristin, Mauermann, Monika, Juarez, Edwin F., Jenseit, Anne, Robinson, James T., Pajtler, Kristian W., Milde, Till, Jäger, Natalie, Fiesel, Petra, Morgan, Ling, Sridhar, Sunita, Coufal, Nicole G., Levy, Michael, Malicki, Denise, Hobbs, Charlotte, Kingsmore, Stephen, Nahas, Shareef, Snuderl, Matija, Crawford, John, Wechsler-Reya, Robert J., Davidson, Tom Belle, Cotter, Jennifer, Michaiel, George, Fleischhack, Gudrun, Mundlos, Stefan, Schmitt, Anthony, Carter, Hannah, Michealraj, Kulandaimanuvel Antony, Kumar, Sachin A., Taylor, Michael D., Rich, Jeremy, Buchholz, Frank, Mesirov, Jill P., Pfister, Stefan M., Ay, Ferhat, Dixon, Jesse R., Kool, Marcel, Chavez, Lukas
Publicado 2023