Loading...
Header Logo
Keywords
Last Name
Institution

TANYA NOELLE EBLE

TitleAssistant Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
vCardDownload vCard

    Collapse ORNG Applications 
    Collapse Verify Publications

    Collapse Bibliographic 
    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.
    List All   |   Timeline
    1. 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.
      View in: PubMed
    2. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Needs assessment in genetic testing education: A survey of parents of children with autism spectrum disorder in the united states. Autism Res. 2019 Aug; 12(8):1162-1170. PMID: 31165588.
      View in: PubMed
    3. Assia Batzir N, Bhagwat PK, Eble TN, Liu P, Eng CM, Elsea SH, Robak LA, Scaglia F, Goldman AM, Dhar SU, Wangler MF. De novo missense variant in the GTPase effector domain (GED) of DNM1L leads to static encephalopathy and seizures. Cold Spring Harb Mol Case Stud. 2019 Jun; 5(3). PMID: 30850373.
      View in: PubMed
    4. Boulier K, Erwin DJ, Nagamani S, Eble TN. A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1. Clin Case Rep. 2019 Jan; 7(1):202-205. PMID: 30656042.
      View in: PubMed
    5. Prakash P, Eble TN, Dhar SU. Quality improvement of clinic flow for complex genetic conditions: Using Ehlers-Danlos syndrome as a model. Mol Genet Genomic Med. 2018 11; 6(6):993-1000. PMID: 30259710.
      View in: PubMed
    6. Chen LS, Zhao S, Stelzig D, Dhar SU, Eble T, Yeh YC, Kwok OM. Development and evaluation of a genomics training program for community health workers in Texas. Genet Med. 2018 09; 20(9):1030-1037. PMID: 29300380.
      View in: PubMed
    7. Posey JE, Burrage LC, Campeau PM, Lu JT, Eble TN, Kratz L, Schlesinger AE, Gibbs RA, Lee BH, Nagamani SC. Adult presentation of X-linked Conradi-H√ľnermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14. PMID: 25846959.
      View in: PubMed
    8. Niravath P, Eble T, Contreras A, Li M, Franco LM, Rimawi M. Breast adenocarcinoma recurring as small cell carcinoma in a patient with a germline BRCA2 mutation: clonal evolution unchecked. Exp Hematol Oncol. 2015; 4(1):1. PMID: 25671134.
      View in: PubMed
    9. Pal CV, Eble TN, Burnside RD, Bi W, Patel A, Franco LM. Variable levels of tissue mosaicism can confound the interpretation of chromosomal microarray results from peripheral blood. Eur J Med Genet. 2014 May-Jun; 57(6):264-6. PMID: 24636861.
      View in: PubMed
    10. Burrage LC, Eble TN, Hixson PM, Roney EK, Cheung SW, Franco LM. A mosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. Am J Med Genet A. 2013 Apr; 161A(4):841-4. PMID: 23444363.
      View in: PubMed
    11. Eble TN, Nagamani SC, Franco LM, Plon SE, Blazo M, Dhar SU. The practice of adult genetics: a 7-year experience from a single center. Am J Med Genet A. 2013 Jan; 161A(1):89-93. PMID: 23239603.
      View in: PubMed
    12. Fruhman G, Eble TN, Gambhir N, Sutton VR, Van den Veyver IB, Lewis RA. Ophthalmologic findings in Aicardi syndrome. J AAPOS. 2012 Jun; 16(3):238-41. PMID: 22681940.
      View in: PubMed
    13. Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12. PMID: 22405928.
      View in: PubMed
    14. Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB. A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009 Oct; 149A(10):2113-21. PMID: 19760649.
      View in: PubMed
    15. Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB. Non-random X chromosome inactivation in Aicardi syndrome. Hum Genet. 2009 Mar; 125(2):211-6. PMID: 19116729.
      View in: PubMed
    16. Wang X, Reid Sutton V, Omar Peraza-Llanes J, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. 2007 Jul; 39(7):836-8. PMID: 17546030.
      View in: PubMed
    17. Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB. Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children. J Child Neurol. 2007 Feb; 22(2):176-84. PMID: 17621479.
      View in: PubMed
    18. Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB. Facial and physical features of Aicardi syndrome: infants to teenagers. Am J Med Genet A. 2005 Oct 15; 138A(3):254-8. PMID: 16158440.
      View in: PubMed
    EBLE's Networks
    Click the "See All" links for more information and interactive visualizations!
    Concepts Expand Description
    _
    Co-Authors Expand Description
    _
    Similar People Expand Description
    _
    Same Department Expand Description