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TANYA EBLE

TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
Address7200 CAMBRIDGE
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    Other Positions
    TitleAssociate Professor
    InstitutionBaylor College of Medicine
    DepartmentSchool of Health Professions
    DivisionSchool of Health Professions


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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. Brooks D, Burke E, Lee S, Eble TN, O'Leary M, Osei-Owusu I, Rehm HL, Dhar SU, Emrick L, Bick D, Nehrebecky M, Macnamara E, Casas-Alba D, Armstrong J, Prat C, Mart?nez-Monseny AF, Palau F, Liu P, Adams D, Undiagnosed Diseases Network, Lalani S, Rosenfeld JA, Burrage LC. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Hum Genet. 2024 Mar; 143(3):279-291. PMID: 38451290; PMCID: PMC11191325.
      Citations:    Fields:    Translation:Humans
    2. Zhao S, Chen WJ, Kwok OM, Dhar SU, Eble TN, Tseng TS, Chen LS. Psychometric Properties of the POAGTS: A Tool for Understanding Parents' Perceptions Regarding Autism Spectrum Disorder Genetic Testing. Int J Environ Res Public Health. 2021 03 23; 18(6). PMID: 33807035; PMCID: PMC8004979.
      Citations:    Fields:    Translation:Humans
    3. Chen WJ, Zhao S, Stelzig D, Nimmons KM, Dhar SU, Eble TN, Martinez D, Yeh YL, Chen LS. Family Health History-Based Cancer Prevention Training for Community Health Workers. Am J Prev Med. 2021 03; 60(3):e159-e167. PMID: 33358550.
      Citations: 2     Fields:    Translation:Humans
    4. Chen LS, Zhao S, Yeh YL, Eble TN, Dhar SU, Kwok OM. Texas health educators'?practice in basic genomics education and services. Per Med. 2021 01; 18(1):55-66. PMID: 33332182.
      Citations:    Fields:    Translation:Humans
    5. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Pursuing genetic testing for children with autism spectrum disorders: What do parents think? J Genet Couns. 2021 04; 30(2):370-382. PMID: 32985757.
      Citations: 3     Fields:    Translation:Humans
    6. Erwin DJ, LaMaire C, Espana A, Eble TN, Dhar SU. Financial barriers in a county genetics clinic: Problems and solutions. J Genet Couns. 2020 08; 29(4):678-688. PMID: 32275337.
      Citations: 3     Fields:    Translation:Humans
    7. Zhao S, Chen WJ, Dhar SU, Eble TN, Kwok OM, Chen LS. Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States. J Autism Dev Disord. 2019 Dec; 49(12):4821-4833. PMID: 31542846.
      Citations: 7     Fields:    Translation:Humans
    8. 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
    9. 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 08; 12(8):1162-1170. PMID: 31165588.
      Citations: 6     Fields:    Translation:Humans
    10. 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 06; 5(3). PMID: 30850373; PMCID: PMC6549558.
      Citations: 11     Fields:    Translation:HumansCells
    11. 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; PMCID: PMC6333055.
      Citations:    
    12. 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; PMCID: PMC6305640.
      Citations: 1     Fields:    Translation:Humans
    13. 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.
      Citations: 7     Fields:    Translation:Humans
    14. 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?nermann-Happle syndrome. Am J Med Genet A. 2015 Jun; 167(6):1309-14. PMID: 25846959; PMCID: PMC4449285.
      Citations: 3     Fields:    Translation:HumansCells
    15. 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; PMCID: PMC4323278.
      Citations: 1     
    16. 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; PMCID: PMC6859793.
      Citations:    Fields:    Translation:HumansCells
    17. 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; PMCID: PMC6868782.
      Citations: 8     Fields:    Translation:HumansCells
    18. 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; PMCID: PMC6859647.
      Citations: 4     Fields:    Translation:Humans
    19. 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; PMCID: PMC3650611.
      Citations: 13     Fields:    Translation:Humans
    20. 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.
      Citations: 8     Fields:    Translation:Humans
    21. 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; PMCID: PMC3640635.
      Citations: 6     Fields:    Translation:Humans
    22. 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; PMCID: PMC2660246.
      Citations: 4     Fields:    Translation:Humans
    23. 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.
      Citations: 92     Fields:    Translation:HumansCells
    24. 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.
      Citations: 9     Fields:    Translation:Humans
    25. 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.
      Citations: 12     Fields:    Translation:Humans
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