The overall goal of this project is to investigate the etiology and pathogenesis of malformations (i.e., birth defects) of the limb, concentrating on abnormalities of limb patterning such as limb deficiency/duplications and multiple congenital contractures. The exome sequences of two siblings and two unrelated individuals were obtained by massively parallel DNA sequencing. The four individuals were affected with Miller syndrome (OMIM: <a href="http://www.ncbi.nlm.nih.gov/omim/263750">263750</a>). Additionally, the whole-genome sequences of a family of four were obtained with the method of Complete Genomics Incorporated (CGI). The two offspring were both affected with Miller syndrome and is the same sibling pair mentioned previously from whom exome sequences were also obtained.

Genetic Analysis of Limb Malformation Disorders: Miller Syndrome Sequencing Study (LMD-MS)

Exome sequencing identifies the cause of a Mendelian disorder

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

Postaxial acrofacial dysostosis syndrome.

Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling.