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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. Yang R, Turunbedu SK, Nandiwada S, Curry CV, Elghetany TM, Scull B, Geng J, Vargas-Hernandez A, Chinn IK, Ochoa S, Allen CE, Satter LF. Distinct EBV-Associated Phenotypes Due to a Novel Homozygous Missense Variant in CD27. bioRxiv. 2026 Jan 26. PMID: 41607518; PMCID: PMC12836332.
      Citations:    
    2. Du H, Lun MY, Gagarina L, Bengtsson JD, Grochowski CM, Mehaffey MG, Hwang JP, Jhangiani SN, Bhamidipati SV, Muzny DM, Poli MC, Ochoa S, Chinn IK, Lindstrand A, Posey JE, Gibbs RA, Liu P, Lupski JR, Carvalho CMB. An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families. Genome Med. 2025 12 31; 18(1):16. PMID: 41470026; PMCID: PMC12866024.
      Citations: 2     Fields:    Translation:Humans
    3. Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, D?lot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, GREGoR Partner Members, Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. GREGoR: accelerating genomics for rare diseases. Nature. 2025 11; 647(8089):331-342. PMID: 41224980; PMCID: PMC13004989.
      Citations: 8     Fields:    Translation:Humans
    4. Lun MY, Posey JE, Bengtsson JD, Du H, Roy RS, Yang L, Ochoa S, Yuan B, Gillentine M, Lindstrand A, Carvalho CMB. Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon. medRxiv. 2025 Aug 12. PMID: 40832433; PMCID: PMC12363759.
      Citations:    
    5. 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 Dec; 156(6):1477-1488. PMID: 40738288.
      Citations:    Fields:    Translation:HumansCells
    6. 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: 1     Fields:    Translation:HumansCells
    7. 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.
      Citations: 2     Fields:    Translation:HumansCells
    8. 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.
      Citations: 2     Fields:    Translation:Humans
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