Prateek Gupta

An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease

Magalie S Leduc, D. Milewicz, M. Leduc, 2008, Journal of Human Genetics.

Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

D. Milewicz, D. Guo, P. Deen, 2004, Journal of the American Society of Nephrology : JASN.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

J. Coselli, S. Lemaire, J. Towbin, 2010, European journal of medical genetics.

Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

I. Kaitila, D. Milewicz, L. Adès, 2002, Human mutation.

Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability

D. Milewicz, M. Delatycki, G. McGillivray, 2006, Clinical dysmorphology.

The FBN2 gene: new mutations, locus‐specific database (Universal Mutation Database FBN2), and genotype‐phenotype correlations

D. Milewicz, C. Béroud, H. Klein, 2009, Human mutation.

The FBN 2 Gene : New Mutations , Locus-Specific Database ( Universal Mutation Database FBN 2 ) , and Genotype-Phenotype Correlations

D. Milewicz, C. Béroud, H. Klein, 2008 .

High throughput detection of small genomic insertions or deletions by Pyrosequencing

D. Milewicz, D. Guo, Prateek Gupta, 2003, Biotechnology Letters.