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DESCRIPTION

Development of a targeted next-generation sequencing assay for the diagnosis and discovery of mutations in rare diseases with oro-dental manifestations.

Discovery of novel genes responsible for rare genetic disorders with oro-dental manifestations

PUBLICATIONS

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad MK, et al.

J Med Genet. 2015 Feb;52(2):85-94.

A polymorphic T-rich sequence in the 3’UTR of ATP1B1 is associated with blood pressure and regulates alternative polyadenylation.

Prasad MK, Bhalla K, Pan ZH, O’Connell J, Li Z, Weder A, Chakravarti A, Tian B, Chang YP.

PLoS One. 2013 Oct 1;8(10):e76290.

SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.

Prasad MK, Reed X, Gorkin D, Cronin JC, McAdow AR, Chain K, Hodonsky CJ, Jones EA, Svaren J, Antonellis, A, Johnson SL, Loftus SK, Pavan WJ, McCallion AS.

BMC Dev. Biol. 2011 Jun 14;11:40.

Pluripotency redux-advances in stem-cell research.

Gearhart J, Pashos EE, Prasad MK.

N Engl J Med. 2007 Oct 11;357(15):1469-72.

KEYWORDS

• Next generation sequencing
• Exome sequencing
• Molecular genetics
• Clinical diagnostics