<p>The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from parent to child) diseases by using exome (protein coding segments of DNA) resequencing.</p> <p>The exome sequences of ten unrelated individuals with a diagnosis of Kabuki Syndrome (OMIM: <a href="http://www.ncbi.nlm.nih.gov/omim/147920">147920</a>) were obtained by massively parallel DNA sequencing.</p>

Next Generation Mendelian Genetics: Kabuki Syndrome

1 selected publication including "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndro..." (1,413 citations)

Next Generation Mendelian Genetics: Kabuki Syndrome

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome