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CLAUDIA FONSECA

TitleVisiting Assistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    R01GM152556     (FONSECA, CLAUDIA CARVALHO)Aug 1, 2024 - Jul 31, 2026
    NIH
    Investigating the Function of Highly Similar Intrachromosomal Repeats to Genomic Instability and Perturbed Gene Expression in Genetic Disorder
    Role: Principal Investigator
    R01GM132589     (FONSECA, CLAUDIA CARVALHO)May 1, 2020 - Apr 30, 2025
    NIH
    Uncovering inversion formation in the human genome and its impact to disease.
    Role: Principal Investigator
    R03HD092569     (FONSECA, CLAUDIA)Jul 20, 2018 - Jun 30, 2020
    NIH
    Discovery and functional characterization of genic variants leading to Robinow syndrome and related skeletal dysplasias.
    Role: Principal Investigator

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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.
    Newest   |   Oldest   |   Most Cited   |   Most Discussed   |   Timeline   |   Field Summary   |   Plain Text
    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. Freitas VLT, Piotto MR, Esper HR, Nakanishi EYS, Fonseca CA, Assy JGPL, Berreta OCP, Fran?a FOS, Lopes MH. Detection of Trypanosoma cruzi DTUs TcI and TcIV in two outbreaks of orally-transmitted Chagas disease in the Northern region of Brazil. Rev Inst Med Trop Sao Paulo. 2023; 65:e7. PMID: 36651468; PMCID: PMC9870254.
      Citations:    
    2. Sato PK, Oshiro TM, Passos ?C, Miranda TGR, Diogo CL, Fonseca CA, Sadahiro A, de Almeida SR, Shikanai-Yasuda MA. Monocyte-Derived Dendritic Cells Can Revert In Vitro Antigen-Specific Cellular Anergy in Active Human Paracoccidioidomycosis. J Fungi (Basel). 2021 Mar 10; 7(3). PMID: 33802081; PMCID: PMC8000053.
      Citations:    
    3. Busser FD, Coelho VC, Fonseca CA, Del Negro GMB, Shikanai-Yasuda MA, Lopes MH, Magri MMC, Freitas VLT. A Real Time PCR strategy for the detection and quantification of Candida albicans in human blood. Rev Inst Med Trop Sao Paulo. 2020; 62:e9. PMID: 32049260; PMCID: PMC7014565.
      Citations:    
    4. Carvalho CMB, Coban-Akdemir Z, Hijazi H, Yuan B, Pendleton M, Harrington E, Beaulaurier J, Juul S, Turner DJ, Kanchi RS, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Stankiewicz P, Belmont JW, Shaw CA, Cheung SW, Hanchard NA, Sutton VR, Bader PI, Lupski JR. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25. PMID: 31014393; PMCID: PMC6480824.
      Citations: 7     Fields:    Translation:HumansCells
    5. Coban-Akdemir Z, White JJ, Song X, Jhangiani SN, Fatih JM, Gambin T, Bayram Y, Chinn IK, Karaca E, Punetha J, Baylor-Hopkins Center for Mendelian Genomics, Boerwinkle E, Shaw CA, Orange JS, Gibbs RA, Lappalainen T, Lupski JR, Carvalho CMB, Poli C. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 08 02; 103(2):171-187. PMID: 30032986; PMCID: PMC6081281.
      Citations: 70     Fields:    Translation:HumansCells
    6. White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB, Ramond F, Touraine R, Thevenon J. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet. 2018 01 04; 102(1):27-43. PMID: 29276006; PMCID: PMC5777383.
      Citations: 40     Fields:    Translation:HumansCells
    7. Tcw J, Carvalho CMB, Yuan B, Gu S, Altheimer AN, McCarthy S, Malhotra D, Sebat J, Siegel AJ, Rudolph U, Lupski JR, Levy DL, Brennand KJ. Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of?Psychosis. Stem Cell Reports. 2017 03 14; 8(3):519-528. PMID: 28216146; PMCID: PMC5355568.
      Citations: 5     Fields:    Translation:HumansCells
    8. White JJ, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB, Mazzeu JF. DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. Am J Hum Genet. 2016 Mar 03; 98(3):553-561. PMID: 26924530; PMCID: PMC4800044.
      Citations: 39     Fields:    Translation:HumansCells
    9. White J, Hoischen A, Jhangiani SN, Gambin T, Penney S, Hove H, Skovby F, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Mazzeu JF, Alcino MC, Saraiva JM, Kayserili H, Carvalho CM. DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. Am J Hum Genet. 2015 Apr 02; 96(4):612-22. PMID: 25817016; PMCID: PMC4385180.
      Citations: 54     Fields:    Translation:HumansCells
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