Susan R. Panny

Assistant Professor

1969 …2014
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Research Output 1969 2014

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., 2014, In : Molecular Genetics and Metabolism. 111, p. 55-57 3 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Lysophosphatidylcholines
Liquid chromatography
Mass spectrometry
Screening

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 2014, In : American Journal of Medical Genetics, Part A. 164, 2, p. 561 1 p.

Research output: Contribution to journalArticle

Male Infertility

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 2012, In : Genetics in Medicine. 14, 5, p. 543-551 9 p.

Research output: Contribution to journalArticle

Osteogenesis Imperfecta
African Americans
Mutation
Slaves
Microsatellite Repeats

False negative cystic fibrosis newborn screen

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

Research output: Contribution to journalArticle

Infant, Newborn, Diseases
False Negative Reactions
Neonatal Screening
Cystic Fibrosis Transmembrane Conductance Regulator
Sweat

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 2009, In : Molecular Genetics and Metabolism. 97, 3, p. 212-220 9 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Liquid chromatography
Liquid Chromatography
Screening
Peroxisomal Disorders