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Kara Weisiger, MS

TitleGenetic Counselor
InstitutionUniversity of California San Francisco
DepartmentPediatrics
Address550 16th. Street
San Francisco CA 94158
Phone415-476-4675
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S191-8. PMID: 20431954.
      View in: PubMed
    2. Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008 Sep; 2(3):390-4. PMID: 19669271; PMCID: PMC2716892.
    3. VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S. Executive functioning in children and adolescents with phenylketonuria. Clin Genet. 2007 Jul; 72(1):13-8. PMID: 17594394.
      View in: PubMed
    4. Enns GM, Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S. Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle. Clin Genet. 2005 Oct; 68(4):337-48. PMID: 16143021.
      View in: PubMed
    5. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005 Mar 01; 133A(2):197-201. PMID: 15633176.
      View in: PubMed
    6. Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1184-7. PMID: 12812952.
      View in: PubMed
    7. Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. PMID: 12654978.
      View in: PubMed
    8. Eskenazi B, Wyrobek AJ, Kidd SA, Lowe X, Moore D, Weisiger K, Aylstock M. Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome. Hum Reprod. 2002 Mar; 17(3):576-83. PMID: 11870106.
      View in: PubMed
    9. Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun; 24(3):328-36. PMID: 11486897.
      View in: PubMed
    10. Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. J Pediatr. 2000 Feb; 136(2):251-4. PMID: 10657835.
      View in: PubMed
    11. Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J Inherit Metab Dis. 1999 Jun; 22(5):599-607. PMID: 10399092.
      View in: PubMed