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SEBASTIAN OCHOA GONZALEZ

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Pediatrics
Address6621 FANNIN
ORCID ORCID Icon0000-0001-6334-110X Additional info
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    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. Ochoa S, Oler AJ, Chinn IK, Lionakis MS. Hidden splice variants in inborn errors of immunity: Uncovering diagnoses and therapeutic targets. J Allergy Clin Immunol. 2025 Jul 28. PMID: 40738288.
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    2. Ochoa S, Lionakis MS. Uncovering ASO-Targetable Deep Intronic AIRE Variants: Insights and Therapeutic Implications. DNA Cell Biol. 2025 Jan; 44(1):1-5. PMID: 39450475; PMCID: PMC11807907.
      Citations:    
    3. Ochoa S, Hsu AP, Oler AJ, Kumar D, Chauss D, van Hamburg JP, van Laar GG, Oikonomou V, Ganesan S, Ferré EMN, Schmitt MM, DiMaggio T, Barber P, Constantine GM, Rosen LB, Auwaerter PG, Gandhi B, Miller JL, Eisenberg R, Rubinstein A, Schussler E, Balliu E, Shashi V, Neth O, Olbrich P, Le KM, Mamia N, Laakso S, Nevalainen PI, Grönholm J, Seppänen MRJ, Boon L, Uzel G, Franco LM, Heller T, Winer KK, Ghosh R, Seifert BA, Walkiewicz M, Notarangelo LD, Zhou Q, Askentijevich I, Gahl W, Dalgard CL, Perera L, Afzali B, Tas SW, Holland SM, Lionakis MS, Ferr? EMN, Neth O, Olbrich P, Gr?nholm J, Sepp?nen MRJ. A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion. Sci Transl Med. 2024 09 18; 16(765):eadk0845. PMID: 39292801; PMCID: PMC12038428.
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    4. Ochoa S, Waters P, Vieillard E, Soldatos A, Leite MI, Lionakis MS, Vieillard E. Progressive Encephalomyelitis with Rigidity and Myoclonus (PERM) Associated with GlyR Antibody in an APECED Patient. J Clin Immunol. 2024 09 12; 45(1):2. PMID: 39264456; PMCID: PMC11393104.
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