Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 Similar Profiles
Mothers Medicine & Life Sciences
Newborn Infant Medicine & Life Sciences
Population Medicine & Life Sciences
Pregnancy Medicine & Life Sciences
Smoking Medicine & Life Sciences
Parturition Medicine & Life Sciences
Guidelines Medicine & Life Sciences
Genes Medicine & Life Sciences

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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: Research - peer-reviewArticle

Liquid chromatography
Mass spectrometry

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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

Osteogenesis Imperfecta
African Americans
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: Research - peer-reviewArticle

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: Research - peer-reviewArticle

Liquid chromatography
Liquid Chromatography