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Last Name

Hufnagel, Sophia

TitleAssistant Professor
InstitutionChildrens National Medical Center
DepartmentGenetics and Metabolism
Address111 Michigan Ave NW
Washington DC 20010
Phone(202) 4765057
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    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.
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    1. Menke LA. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome. Am J Med Genet A. 2018 04; 176(4):862-876. PMID: 29460469.
      View in: PubMed
    2. Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017 02; 19(2):249-255. PMID: 27854360.
      View in: PubMed
    3. Hufnagel SB, Martin LJ, Cassedy A, Hopkin RJ, Antommaria AH. Adolescents' preferences regarding disclosure of incidental findings in genomic sequencing that are not medically actionable in childhood. Am J Med Genet A. 2016 08; 170(8):2083-8. PMID: 27149544.
      View in: PubMed
    4. Hong S, Hu P, Marino J, Hufnagel SB, Hopkin RJ, Toromanovic A, Richieri-Costa A, Ribeiro-Bicudo LA, Kruszka P, Roessler E, Muenke M. Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome. Hum Mol Genet. 2016 05 15; 25(10):1912-1922. PMID: 26931467.
      View in: PubMed
    5. Villamizar-Schiller IT, Pabón LA, Hufnagel SB, Serrano NC, Karl G, Jefferies JL, Hopkin RJ, Prada CE. Neurological and cardiac responses after treatment with miglustat and a ketogenic diet in a patient with Sandhoff disease. Eur J Med Genet. 2015 Mar; 58(3):180-3. PMID: 25497207.
      View in: PubMed
    6. Hufnagel SB, Weaver KN, Hufnagel RB, Bader PI, Schorry EK, Hopkin RJ. A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia. Am J Med Genet A. 2014 Oct; 164A(10):2607-12. PMID: 25091507.
      View in: PubMed
    7. Hufnagel SB, Antommaria AH. Laboratory policies on reporting secondary findings in clinical whole exome sequencing: initial uptake of the ACMG's recommendations. Am J Med Genet A. 2014 May; 164A(5):1328-31. PMID: 24458369.
      View in: PubMed
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