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Sebastian Ochoa

Department of Pediatrics

12H-index
44Paper Count
3.7KCitation Count
Published Papers 20
Publication Date
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families
err2025-12-31
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errOAAI
errHaowei Du; Ming Yin Lun; Lidiia Gagarina; Jesse D. Bengtsson; Christopher M. Grochowski; Michele G. Mehaffey; James Paul Hwang; Shalini N. Jhangiani; Sravya V. Bhamidipati; Donna M. Muzny; M. Cecilia Poli; Sebastian Ochoa; Ivan K. Chinn; Anna Lindstrand; Jennifer E. Posey; Richard A. Gibbs; Pengfei Liu; James R. Lupski; Claudia M. B. Carvalho
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A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
err2024-09-18
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PREAI
errOchoa, Sebastian; Hsu, Amy P.; Oler, Andrew J.; Kumar, Dhaneshwar; Chauss, Daniel; van Hamburg, Jan Piet; van Laar, Gustaaf G.; Oikonomou, Vasileios; Ganesan, Sundar; Ferre, Elise M. N.; Schmitt, Monica M.; Dimaggio, Tom; Barber, Princess; Constantine, Gregory M.; Rosen, Lindsey B.; Auwaerter, Paul G.; Gandhi, Bhumika; Miller, Jennifer L.; Eisenberg, Rachel; Rubinstein, Arye; Schussler, Edith; Balliu, Erjola; Shashi, Vandana; Neth, Olaf; Olbrich, Peter; Le, Kim My; Mamia, Nanni; Laakso, Saila; Nevalainen, Pasi I.; Groenholm, Juha; Seppaenen, Mikko R. J.; Boon, Louis; Uzel, Gulbu; Franco, Luis M.; Heller, Theo; Winer, Karen K.; Ghosh, Rajarshi; Seifert, Bryce A.; Walkiewicz, Magdalena; Notarangelo, Luigi D.; Zhou, Qing; Askentijevich, Ivona; Gahl, William; Dalgard, Cliffton L.; Perera, Lalith; Afzali, Behdad; Tas, Sander W.; Holland, Steven M.; Lionakis, Michail S.
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Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient
err2024-09-12
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errOAAI
errOchoa, Sebastian; Waters, Patrick; Vieillard, Eleonore; Soldatos, Ariane; Leite, M. Isabel; Lionakis, Michail S.
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Management and outcome of COVID-19 in CTLA-4 insufficiency
err2023-09-27
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errOchoa, Sebastian; Abers, Michael S.; Rosen, Lindsey B.; Rump, Amy; Howe, Katherine; Lieberman, Jay A.; Wright, Benjamin L.; Suez, Daniel; Krausz, Mate; Grimbacher, Bodo; Lionakis, Michail S.; Uzel, Gulbu
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SARS-CoV-2 Spike Protein-Directed Monoclonal Antibodies May Ameliorate COVID-19 Complications in APECED Patients
err2021-08-24
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errFerre, Elise M. N.; Schmitt, Monica M.; Ochoa, Sebastian; Rosen, Lindsey B.; Shaw, Elana R.; Burbelo, Peter D.; Stoddard, Jennifer L.; Rampertaap, Shakuntala; DiMaggio, Tom; Bergerson, Jenna R. E.; Rosenzweig, Sergio D.; Notarangelo, Luigi D.; Holland, Steven M.; Lionakis, Michail S.
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Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1
err2021-04-23
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errOAAI
errBastard, Paul; Orlova, Elizaveta; Sozaeva, Leila; Levy, Romain; James, Alyssa; Schmitt, Monica M.; Ochoa, Sebastian; Kareva, Maria; Rodina, Yulia; Gervais, Adrian; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Neehus, Anna-Lena; Shaw, Elana; Migaud, Melanie; Bizien, Lucy; Ekwall, Olov; Berg, Stefan; Beccuti, Guglielmo; Ghizzoni, Lucia; Thiriez, Gerard; Pavot, Arthur; Goujard, Cecile; Fremond, Marie-Louise; Carter, Edwin; Rothenbuhler, Anya; Linglart, Agnes; Mignot, Brigite; Comte, Aurelie; Cheikh, Nathalie; Hermine, Olivier; Breivik, Lars; Husebye, Eystein S.; Humbert, Sebastien; Rohrlich, Pierre; Coaquette, Alain; Vuoto, Fanny; Faure, Karine; Mahlaoui, Nizar; Kotnik, Primoz; Battelino, Tadej; Podkrajsek, Katarina Trebusak; Kisand, Kai; Ferre, Elise M. N.; DiMaggio, Thomas; Rosen, Lindsey B.; Burbelo, Peter D.; McIntyre, Martin; Kann, Nelli Y.; Shcherbina, Anna; Pavlova, Maria; Kolodkina, Anna; Holland, Steven M.; Zhang, Shen-Ying; Crow, Yanick J.; Notarangelo, Luigi D.; Su, Helen C.; Abel, Laurent; Anderson, Mark S.; Jouanguy, Emmanuelle; Neven, Benedicte; Puel, Anne; Casanova, Jean-Laurent; Lionakis, Michail S.
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Daratumumab (Anti-CD38) for Treatment of Disseminated Nontuberculous Mycobacteria in a Patient With Anti-Interferon-γ Autoantibodies
err2020-08-03
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errOAAI
errOchoa, Sebastian; Ding, Li; Kreuzburg, Samantha; Treat, Jennifer; Holland, Steven M.; Zerbe, Christa S.
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Safety and efficacy of immune checkpoint inhibitors (ICIs) in patients with HIV, hepatitis B, or hepatitis C viral infections
err2019-07-01
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PREAI
errShah, Neil J.; AL-Shbool, Ghassan; Blackburn, Matthew; Cook, Michael; Kelly, William J.; Belouali, Anas; Ochoa, Sebastian; Colton, Bradley S.; Puthiamadathil, Jeevan; Serzan, Michael T.; Knoedler, Alice R.; Liu, Stephen V.; Pishvaian, Michael J.; Mohebtash, Mahsa; Madhavan, Subha; He, Aiwu R.; Atkins, Michael B.; Gibney, Geoffrey T.; Kim, Chul
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Safety and Efficacy of Tissue Plasminogen Activator and DNase for Complicated Pleural Effusions Secondary to Abdominal Pathology
err2017-03-01
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PREAI
errMajid, Adnan; Ochoa, Sebastian; Chatterji, Sumit; Fernandez-Bussy, Sebastian; Kheir, Fayez; Rivera, Estefania; Cheng, George; Folch, Erik
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Short-Term Use of Uncovered Self-Expanding Metallic Airway Stents for Severe Expiratory Central Airway Collapse
err2016-10-29
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errMajid, Adnan; Alape, Daniel; Kheir, Fayez; Folch, Erik; Ochoa, Sebastian; Folch, Alejandro; Gangadharan, Sidhu P.
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Transparent antifouling material for improved operative field visibility in endoscopy
err2016-09-29
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errSunny, Steffi; Cheng, George; Daniel, Daniel; Lo, Peter; Ochoa, Sebastian; Howell, Caitlin; Vogel, Nicolas; Majid, Adnan; Aizenberg, Joanna
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Concurrent Intrapleural Instillation of Tissue Plasminogen Activator and DNase for Pleural Infection A Single-Center Experience
err2016-09-01
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PREAI
errMajid, Adnan; Kheir, Fayez; Folch, Alejandro; Fernandez-Bussy, Sebastian; Chatterji, Sumit; Maskey, Ashish; Fashjian, Meghan; Cheng, George; Ochoa, Sebastian; Alape, Daniel; Folch, Erik
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The Undefined Value of Pleural Interventions in Advanced Heart Failure and Recurrent Pleural Effusions Reply
err2016-03-01
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PREAI
errMajid, Adnan; Kheir, Fayez; Fashjian, Meghan; Chatterji, Sumit; Fernandez-Bussy, Sebastian; Ochoa, Sebastian; Cheng, George; Folch, Erik
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Tunneled Pleural Catheter Placement with and without Talc Poudrage for Treatment of Pleural Effusions Due to Congestive Heart Failure
err2016-02-01
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errMajid, Adnan; Kheir, Fayez; Fashjian, Meghan; Chatterji, Sumit; Fernandez-Bussy, Sebastian; Ochoa, Sebastian; Cheng, George; Folch, Erik
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Use of Intrapleural Tissue Plasminogen Activator (TPA) and Deoxiribonuclease (DNAse) for Sympathetic Effusions
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IF8.6
err2015-10-01
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PREAI
errOchoa, Sebastian; Folch, Erik; Del Guzzo, Matt; Fashjian, Meghan; Cheng, George; Ganghadaran, Sidhu; Majid, Adnan
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Evaluation of Lung Sealants as Suture Replacements in an Ex Vivo Pig Model
errCHEST
IF8.6
err2015-10-01
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errOAAI
errOchoa, Sebastian; Dehghani, Bijan; Cheng, George; Wilson, Jennifer; Majid, Adnan; Annabi, Nasim; Khademhosseini, Ali; Ganghadaran, Sidhu
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A Comparison of 3D-Printed Airway Model Versus Standard Model for Bronchoscopy Training
errCHEST
IF8.6
err2015-10-01
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errOAAI
errCheng, George; McSparron, Jakob; Ochoa, Sebastian; Folch, Erik; Brik, Robert; Majid, Adnan
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