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Susan Panny

Susan Panny

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Publications

1.
2012

Wayne A Cabral; Aileen M Barnes; Adebowale Adeyemo; Kelly Cushing; David Chitayat; Forbes D Porter; Susan R Panny; Fizza Gulamali-Majid; Sarah A Tishkoff; Timothy R Rebbeck; et al.

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta.
Genetics in medicine : official journal of the American College of Medical Genetics 2012;14(5):543-51.
2.
2010

Joseph Michael Collaco; Susan R Panny; Ada Hamosh; Peter J Mogayzel

False negative cystic fibrosis newborn screen.
Clinical pediatrics 2010;49(3):214-6.
3.
2009

Walter C Hubbard; Ann B Moser; Anita C Liu; Richard O Jones; Steven J Steinberg; Fred Lorey; Susan R Panny; Robert F Vogt; Daniela Macaya; Coleman T Turgeon; et al.

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Molecular genetics and metabolism 2009;97(3):212-20.

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External Coauthors

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