Susan R. Panny

Assistant Professor

1969 …2014

Research output per year

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Research Output

Newborn screening for X-linked adrenoleukodystrophy: Further evidence high throughput screening is feasible

Theda, C., Gibbons, K., DeFor, T. E., Donohue, P. K., Golden, W. C., Kline, A. D., Gulamali-Majid, F., Panny, S. R., Hubbard, W. C., Jones, R. O., Liu, A. K., Moser, A. B. & Raymond, G. V., Jan 1 2014, In : Molecular genetics and metabolism. 111, 1, p. 55-57 3 p.

Research output: Contribution to journalArticle

  • The childless man

    Scheuerle, A. E., Picconi, J. L., Neidich, J., Panny, S., Plecher, B. A., Randolph, L. M., Trapane, P. & Trotter, T. L., Feb 1 2014, In : American Journal of Medical Genetics, Part A. 164, 2, 1 p.

    Research output: Contribution to journalArticle

    A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

    Cabral, W. A., Barnes, A. M., Adeyemo, A., Cushing, K., Chitayat, D., Porter, F. D., Panny, S. R., Gulamali-Majid, F., Tishkoff, S. A., Rebbeck, T. R., Gueye, S. M., Bailey-Wilson, J. E., Brody, L. C., Rotimi, C. N. & Marini, J. C., May 1 2012, In : Genetics in Medicine. 14, 5, p. 543-551 9 p.

    Research output: Contribution to journalArticle

  • False negative cystic fibrosis newborn screen

    Collaco, J. M., Panny, S. R., Hamosh, A. & Mogayzel, P. J., Apr 1 2010, In : Clinical pediatrics. 49, 3, p. 214-216 3 p.

    Research output: Contribution to journalArticle

    Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method

    Hubbard, W. C., Moser, A. B., Liu, A. C., Jones, R. O., Steinberg, S. J., Lorey, F., Panny, S. R., Vogt, R. F., Macaya, D., Turgeon, C. T., Tortorelli, S. & Raymond, G. V., Jul 1 2009, In : Molecular genetics and metabolism. 97, 3, p. 212-220 9 p.

    Research output: Contribution to journalArticle