@article{61e1ee5fc9bc459f9f0c53a4aeec0da4,
title = "A needle in a haystack: Sturge-Weber syndrome gene discovery",
author = "Comi, {Anne M.} and Marchuk, {Douglas A.} and Jonathan Pevsner",
note = "Funding Information: And as each technology became available, we tried it. Eventually single nucleotide polymorphism (SNP) arrays were tested. At least we were now studying DNA. Although unsuccessful, these results served as pilot data for the SWS project on an NIH Rare Disease Consortium grant application. Through this grant, we obtained more funds to do more and better SNP arrays to find the somatic mutation. This Brain Vascular Malformation Consortium was funded by a Rare Disease Consortium grant to Dr. William Young in 2008. The cost of SNP arrays had decreased. Our initial plan was to do more comparisons of DNA from affected and unaffected tissue from many individuals with SWS. Perhaps we would get lucky. ",
year = "2013",
month = dec,
doi = "10.1016/j.pediatrneurol.2013.07.009",
language = "English (US)",
volume = "49",
pages = "391--392",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "6",
}