Kara Weisiger, MS

Title(s)Affiliate, Human Genetics
SchoolSchool of Medicine
AddressLocation Required
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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Cobalamin D Deficiency Identified Through Newborn Screening. JIMD Rep. 2019; 44:73-77. Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC. PMID: 30097992.
      View in: PubMed   Mentions:
    2. 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. Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. PMID: 20431954.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    3. Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int. 2008 09; 2(3):390-4. Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. PMID: 19669271.
      View in: PubMed   Mentions: 10     Fields:    
    4. Executive functioning in children and adolescents with phenylketonuria. Clin Genet. 2007 Jul; 72(1):13-8. VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S. PMID: 17594394.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    5. Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle. Clin Genet. 2005 Oct; 68(4):337-48. Enns GM, Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S. PMID: 16143021.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    6. Marinesco-Sjögren syndrome in a male with mild dysmorphism. . 2005 Mar 01; 133A(2):197-201. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. PMID: 15633176.
      View in: PubMed   Mentions:
    7. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol. 2003 Jun-Jul; 24(6):1184-7. Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. PMID: 12812952.
      View in: PubMed   Mentions: 28     Fields:    Translation:Humans
    8. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. PMID: 12654978.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    9. Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome. Hum Reprod. 2002 Mar; 17(3):576-83. Eskenazi B, Wyrobek AJ, Kidd SA, Lowe X, Moore D, Weisiger K, Aylstock M. PMID: 11870106.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    10. Clinical course and biochemistry of sialuria. J Inherit Metab Dis. 2001 Jun; 24(3):328-36. Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. PMID: 11486897.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    11. 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. Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. PMID: 10657835.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    12. Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. J Inherit Metab Dis. 1999 Jun; 22(5):599-607. Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S. PMID: 10399092.
      View in: PubMed   Mentions: 18     Fields:    Translation:Humans