Now showing items 1-8 of 8

    • Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome 

      Baris, Hagit N; Chan, Wai-Man; Andrews, Caroline; Behar, Doron M; Donovan, Diana J; Morton, Cynthia C; Ranells, Judith; Pal, Tuya; Ligon, Azra H; Engle, Elizabeth C (Blackwell Publishing Ltd, 2013)
      Key Clinical Message A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. ...
    • Complex Reorganization and Predominant Non-Homologous Repair Following Chromosomal Breakage in Karyotypically Balanced Germline Rearrangements and Transgenic Integration 

      Chiang, Colby; Jacobsen, Jessie C.; Ernst, Carl; Hanscom, Carrie; Heilbut, Adrian; Blumenthal, Ian; Mills, Ryan E.; Kirby, Andrew; Rudiger, Skye R.; McLaughlan, Clive J.; Bawden, C. Simon; Reid, Suzanne J.; Faull, Richard L. M.; Snell, Russell G.; Hall, Ira M.; Ohsumi, Toshiro K.; Shen, Yiping; Borowsky, Mark L; Daly, Mark Joseph; Lee, Charles; Morton, Cynthia Casson; MacDonald, Marcy Elizabeth; Gusella, James Francis; Talkowski, Michael Edward; Lindgren, Amelia M. (Nature Publishing Group, 2012)
      We defined the genetic landscape of balanced chromosomal rearrangements at nucleotide resolution by sequencing 141 breakpoints from cytogenetically-interpreted translocations and inversions. We confirm that the recently ...
    • Identification and Characterization of Genetic Variants Conveying Risk to Develop Uterine Leiomyomata 

      Eggert, Stacey Lynn (2013-01-02)
      Uterine leiomyomata (UL), commonly known as fibroids, are a major public health problem given their extreme prevalence (>70%), severity of associated symptoms, and indication for hysterectomies in women of reproductive ...
    • Identification and function of long non-coding RNA 

      Ernst, Carl; Morton, Cynthia C. (Frontiers Media S.A., 2013)
      Long non-coding (lnc) RNAs are defined as non-protein coding RNAs distinct from housekeeping RNAs such as tRNAs, rRNAs, and snRNAs, and independent from small RNAs with specific molecular processing machinery such as micro- ...
    • MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus 

      Quintero-Rivera, Fabiola; Xi, Qiongchao J.; Keppler-Noreuil, Kim M.; Lee, Ji Hyun; Higgins, Anne W.; Anchan, Raymond M.; Roberts, Amy E.; Seong, Ihn Sik; Fan, Xueping; Lage, Kasper; Lu, Lily Y.; Tao, Joanna; Hu, Xuchen; Berezney, Ronald; Gelb, Bruce D.; Kamp, Anna; Moskowitz, Ivan P.; Lacro, Ronald V.; Lu, Weining; Morton, Cynthia C.; Gusella, James F.; Maas, Richard L. (Oxford University Press, 2015)
      Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult. We describe a 46,XY,t(1;5)(p36.11;q31.2)dn ...
    • Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion 

      Romeike, Bernd F.M.; Shen, Yiping; Nishimoto, Hiromi Koso; Morton, Cynthia C.; Layman, Lawrence C.; Kim, Hyung-Goo (Dustri-Verlag Dr. Karl Feistle, 2014)
      Letter to the Editor.
    • Training the Future Leaders in Personalized Medicine 

      Mason-Suares, Heather; Sweetser, David A.; Lindeman, Neal I.; Morton, Cynthia C. (MDPI, 2016)
      The era of personalized medicine has arrived, and with it a need for leaders in this discipline. This generation of trainees requires a cadre of new skill sets to lead the implementation of personalized medicine into ...
    • Using population admixture to help complete maps of the human genome 

      Genovese, Giulio; Handsaker, Robert E.; Li, Heng; Altemose, Nicolas; Lindgren, Amelia M.; Chambert, Kimberly; Pasaniuc, Bogdan; Price, Alkes L.; Reich, David; Morton, Cynthia C.; Pollak, Martin R.; Wilson, James G.; McCarroll, Steven A. (2013)
      Tens of millions of base pairs of euchromatic human genome sequence, including many protein-coding genes, have no known location in the human genome. We describe an approach for localizing the human genome's missing pieces ...