Scientific Publications

Search by Keyword(s)
Found 3 results

Filters: Author is Rosenfeld, JA  [Clear All Filters]

Search Results

  • Showing 1-3 of 3 Results
2013
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant.Dauber, A., Golzio C., Guenot C., Jodelka FM, Kibaek M., Kjaergaard S., Leheup B., Martinet D., Nowaczyk MJ, Rosenfeld JA, Zeesman S., Zunich J., Beckmann JS, Hirschhorn JN, Hastings ML, Jacquemont S., and Katsanis N. American journal of human genetics, 2013/11/07, Volume 93, Issue 5, p.798-811, (2013) Read More / View Supplemental Materials
Abstract
2012
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.Talkowski, ME, Maussion G., Crapper L., Rosenfeld JA, Blumenthal I., Hanscom C., Chiang C., Lindgren A., Pereira S., Ruderfer D., Diallo AB, Lopez JP, Turecki G., Chen ES, Gigek C., Harris DJ, Lip V., An Y., Biagioli M., Macdonald ME, et al. American journal of human genetics, 2012/12/07, Volume 91, Issue 6, p.1128-34, (2012) Read More / View Supplemental Materials
Abstract
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries.Talkowski, ME, Rosenfeld JA, Blumenthal I., Pillalamarri V., Chiang C., Heilbut A., Ernst C., Hanscom C., Rossin E., Lindgren AM, Pereira S., Ruderfer D., Kirby A., Ripke S., Harris DJ, Lee JH, Ha K., Kim HG, Solomon BD, Gropman AL, et al. Cell, 2012/04/27, Volume 149, Issue 3, p.525-37, (2012) Read More / View Supplemental Materials
Abstract
  • Showing 1-3 of 3 Results