Kara Weisiger, MS
Affiliate
Human Genetics
School of Medicine

Publications (12)

Top publication keywords:
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)Maple Syrup Urine DiseaseCarbamoyl-Phosphate Synthase I Deficiency DiseaseChromosomes, Human, Pair 5Cerebellar AtaxiaMitochondrial MyopathiesPoint MutationChoristomaMitochondria, MuscleProblem SolvingPhenylketonuriasBrain Diseases, MetabolicSpinocerebellar DegenerationsEpilepsy, Complex PartialOrnithine Carbamoyltransferase Deficiency Disease

• Cobalamin D Deficiency Identified Through Newborn Screening.
  JIMD reports 2018 Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC
• 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.
  Journal of inherited metabolic disease 2010 Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P
• Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
  Hepatology international 2008 Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S
• Executive functioning in children and adolescents with phenylketonuria.
  Clinical genetics 2007 VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S
• Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.
  Clinical genetics 2005 Enns GM, Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S

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• Marinesco-Sjögren syndrome in a male with mild dysmorphism.
  American journal of medical genetics. Part A 2005 Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E
• Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.
  AJNR. American journal of neuroradiology 2003 Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S
• Periventricular heterotopia associated with chromosome 5p anomalies.
  Neurology 2003 Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH
• Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome.
  Human reproduction (Oxford, England) 2002 Eskenazi B, Wyrobek AJ, Kidd SA, Lowe X, Moore D, Weisiger K, Aylstock M
• Clinical course and biochemistry of sialuria.
  Journal of inherited metabolic disease 2001 Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S
• Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
  The Journal of pediatrics 2000 Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S
• Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
  Journal of inherited metabolic disease 1999 Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S