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CHARUL GIJAVANEKAR

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
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    Other Positions
    TitleAssistant Professor
    InstitutionBaylor College of Medicine
    DepartmentHuman Genome Sequencing Center
    DivisionHuman Genome Sequencing Center


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    Collapse selected publications
    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. Rossi V, Brooks D, Dai H, Mizerik E, Salazar K, Davila-Williams D, Ben-Moshe Y, Lalani SR, Elsea SH, Gijavanekar C, Scott DA, Machol K, Bekheirnia MR, Scaglia F. A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 Nov; 197(11):e64177. PMID: 40631390.
      Citations:    Fields:    Translation:Humans
    2. Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F. Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency. Am J Med Genet A. 2023 05; 191(5):1366-1372. PMID: 36751706.
      Citations: 4     Fields:    Translation:Humans
    3. Odom J, Amin H, Gijavanekar C, Elsea SH, Kralik S, Chinen J, Lin Y, Yates AMM, Mizerik E, Potocki L, Scaglia F. A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay. Am J Med Genet A. 2022 01; 188(1):259-268. PMID: 34510712.
      Citations: 5     Fields:    Translation:Humans
    4. Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 06 20; 380(25):2478-2480. PMID: 31216405; PMCID: PMC6934160.
      Citations: 63     Fields:    Translation:Humans
    5. Gijavanekar C, Drabek R, Soni M, Jackson GW, Strych U, Fox GE, Fofanov Y, Willson RC. Detection and typing of viruses using broadly sensitive cocktail-PCR and mass spectrometric cataloging: demonstration with dengue virus. J Mol Diagn. 2012 Jul; 14(4):402-7. PMID: 22579629; PMCID: PMC3391419.
      Citations: 1     Fields:    Translation:Cells
    6. Gijavanekar C, Strych U, Fofanov Y, Fox GE, Willson RC. Rare target enrichment for ultrasensitive PCR detection using cot-rehybridization and duplex-specific nuclease. Anal Biochem. 2012 Feb 01; 421(1):81-5. PMID: 22155054.
      Citations: 5     Fields:    Translation:AnimalsCells
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