DanaRuthKostinerMD

PubMed

• 27 citations
  Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
  Sumit Punj, Yassmine Akkari, Jennifer H. Huang, Fei Yang, Allison L. Creason, Christine Pak, Amiee Potter, Michael O. Dorschner, Deborah A. Nickerson, Peggy D. Roberts...> ;American Journal of Human Genetics. 2018 Jun 7
• 24 citations
  Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing
  Patricia Himes, Tia L. Kauffman, Kristin R. Muessig, Laura M. Amendola, Jonathan S. Berg, Michael O. Dorschner, Marian J. Gilmore, Deborah A. Nickerson, Jacob A. Reiss...> ;Genetics in Medicine. 2017 Jan 12
• 22 citations
  Generating a taxonomy for genetic conditions relevant to reproductive planning.
  Diane M. Korngiebel, Carmit K. McMullen, Laura M. Amendola, Jonathan S. Berg, James V. Davis, Marian J. Gilmore, Cary O. Harding, Patricia Himes, Gail P. Jarvik, Tia L...> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
• 17 citations
  Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
  Michael C. Leo, Carmit K. McMullen, Benjamin S. Wilfond, Frances L. Lynch, Jacob A. Reiss, Marian J. Gilmore, Patricia Himes, Tia L. Kauffman, James V. Davis, Gail P. ...> ;American Journal of Medical Genetics. Part A. 2016 Mar 1
• 8 citations
  Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications.
  Sarah E. Grams, Bob Argiropoulos, Matthew A. Lines, Pranesh Chakraborty, Jean McGowan-Jordan, Michael T. Geraghty, Marilyn Tsang, Marthand Eswara, Kamer Tezcan, Kelly ...> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 25 citations
  Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male
  Ophir D. Klein, Dana Kostiner, Kara Weisiger, Ellen Moffatt, Neal I. Lindeman, Stephen I. Goodman, Mendel Tuchman, Seymour Packman> ;Hepatology International. 2008 May 7
• 132 citations
  The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome
  Lisa G. Shaffer, Aaron Theisen, Bassem A. Bejjani, Blake C. Ballif, Arthur S. Aylsworth, Cynthia Lim, Marie T. McDonald, Jay W. Ellison, Dana Kostiner, Tamim H. Shaikh> ;Genetics in Medicine. 2007 Sep 1
• 14 citations
  Marinesco–Sjögren syndrome in a male with mild dysmorphism
  Anne Slavotinek, Jill Goldman, Kara Weisiger, Dana Kostiner, Mahin Golabi, Seymour Packman, William R. Wilcox, H. Eugene Hoyme, Elliott H. Sherr> ;American Journal of Medical Genetics. Part A. 2005 Mar 1
• 15 citations
  Ring 21 chromosome and a satellited 1p in the same patient: novel origin for an ectopic NOR.
  Anita Ki, Katherine A. Rauen, Lauri D. Black, Dana Kostiner, Per L. Sandberg, Daniel Pinkel, Donna G. Albertson, Mary E. Norton, Philip D. Cotter> ;American Journal of Medical Genetics. Part A. 2003 Jul 30
• 64 citations
  Brain MR Imaging in Acute Hyperammonemic Encephalopathy Arising from Late-Onset Ornithine Transcarbamylase Deficiency
  Jun-ichi Takanashi, A. James Barkovich, Sabrina F. Cheng, Dana Kostiner, John C Baker, Seymour Packman> ;AJNR. American Journal of Neuroradiology. 2003 Mar 1
• 4 citations
  A case of chondrodysplasia punctata with features of osteogenesis imperfecta type II.
  Christopher R. Sidden, Roy A. Filly, Mary E. Norton, Dana R. Kostiner> ;Journal of Ultrasound in Medicine. 2001 Jun 1
• 46 citations
  Hyperammonemia in urea cycle disorders: Role of the nephrologist
  Robert Mathias, Dana Kostiner, Seymour Packman> ;American Journal of Kidney Diseases. 2001 May 1
• 55 citations
  Male infertility: analysis of the markers and genes on the human Y chromosome.
  Dana Kostiner, Paul J. Turek, Renee Reijo> ;Human Reproduction. 1998 Nov 1
• Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
  Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E., Ivarsson, S. A., Kostiner, D., Mansour, S., Norman, A., Roth, J., Stipoljev, F., Taill...> ;Hum Mutat. 2003 Jul
• Stabilization of a terminal inversion duplication of 8p by telomere capture from 18q.
  Kostiner, D. R., Nguyen, H., Cox, V. A., Cotter, P. D.> ;Cytogenet Genome Res. 2002
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