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Neurogenetic Disorders
Bonnemann CG, Lerman-Sagie T, Kosofsky BE, Robinson BH, Sotrel A, Dougherty FE, Sims KB. Leigh's disease due to complex I deficiency presenting as leukodystrophy, American Society of Human GeneticsA608, San Francisco, CA 1994.
Provenzale JM, Barboriak DP, Sims KB. Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. Amer J Neuroradiology 1995; 16:809-813.
Natowicz MR, Short P, Wang Y, Dickersin GR, Beghardt MC, Rosenthal DI, Sims KB, Rosenberg AE Hyaluronidase deficiency: a new inborn error of metabolism. NEJM 1996; 335:1029-1033.
Murphy DL, Sims KB, Eisenhofer G, Greenberg BD, George T, Berlin F, Zametkin A, Ernst M, Breakefield XO. Are MAO-A deficiency states in the general population and in putative high-risk populations highly uncommon? J Neural Transm Suppl 1998;52:29-39.
Beauchamp R, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims KB, Ozelius L, Ramesh V. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with Tuberous Slcerosis. Human Mutation 1998; 12:408-416.
Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg B, Butler MG, Fink S, Schwartz C, Berlin F, Breakefield XO, Murphy D, Hsu Y-PP. Screen for MAOA mutations in target human groups. Amer J Med Genet 1999; 88:25-28.
Klein C, Friedman J, Bressman S, Vieregge P, Brine MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LO, Sims KB. Genetic testing for early-onset torsion dystonia (DYT1): Introduction of a simple screening method, experiences from testing of a large patient cohort and ethical aspects. Genetic Testing 1999; 3:323-328.
Niida Y, Lawrence N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Human Mutation 1999; 14:412-422.
Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacColllin M, Louis DN, Ramesh V. Survey of somatic mutations in TSC hamartomas suggests diffeent genetic mechanism for pathogenesis of TSC lesions. Am J Hum Genet 2001; 69:269-277.
Sims KB Von-Hippel-Lindau Disease: Gene to Bedside. Current Opinions in Neurology, 2001; 14:695-703.
Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Thiele E, Sims K, Kwatkowski DJ. Association of a high expressing interferon-gamma allele with a lower frequency of kidney angiomyolipomas in TSC2 patients, Amer J Hum Genet 2002; 71:750-758.
Sims K. Medical Approaches to Genetic Testing in adoption, In: JF Smith, ed. The Ethics of Genetic testing in Adoption. John W. McCormack Institute of Public Affairs Colloquium, Univ. Mass.,2002, pp.55-73.
Andersen PM, Sims KB, Xin WW, Kiely R, O’Neill G, Ravits J, Pioro E, Vriesendorp FJ, Harati Y, Brower RD, Levine J, Seltzer W, Brown RH. Eleven novel CuZn-SOD mutations in ALS, Brain 2003, 4:1-12.
Jansen A, D’Agostino D, Badhwar A,Sancak O, Andermann F, Dubeau F, Kwiatkowski D, Sims K, Thiele E, Pandolfo M, Andermann E. Codon Mild phenotypic expression in TSC2. Brain, 2006, in press.
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR. Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement. Amer J Medicine, 2006, in press.
Norrie Disease
Sims KB, de la Chapelle A, Norio R, Sankila EM, Hsu Y-PP, Rinehart WB, Corey TJ, Ozelius L, Powell JF, Bruns G, Gusella JF, Murphy DL, Breakefield XO. Monoamine oxidase deficiency in males with an X chromosomal deletion. Neuron 1989; 2:1069-1076.
Sims KB, Ozelius L,Corey T, Rinehart WB, Liberfarb R,Haines J, Chere WJ, Norio R, Sankila EM, de la Chapelle A, Murphy D, Gusella J, Breakefield XO. Norrie disease gene is distinct from the monoamine oxidase genes. Am J Hum Genet 1989; 45:424-434.
Diergaarde PJ, Wieringa B, Bleeker-Wagemakers EM, Sims KB, Breakefield XO, Ropers HH. Physical fine-mapping of a deletion spanning the Norrie gene. Human Genetics 1989; 84:22-36.
Murphy DL, Sims KB, Karoum F, Norio R, Sankila E-M, de la Chapelle A, Breakefield XO. Marked amine and amine metabolite changes in individuals with Norrie disease associated with an X chromosomal deletion in region Xp11.3 affecting monoamine oxidase. J Neurochem 1990; 54: 242-247.
Murphy DL, Sims KB, Karoum F, Garrick NA, de la Chapelle A, Sankila E-M, Norio R, Breakefield XO. Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase. J. Neural Transm Gen Sect 1991; 83:1-12.
Joy JE, Poglod R, Sims KB, de la Chapelle A, Murphy DL, Merril CL. Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X chromosomal deletion associated with Norrie disease: preliminary report. Applied & Theoretical Electrophoresis 1991; 2:3-5.
Collins FA, Murphy DL, Reiss A, Sims KB, Lewis J, Antonarakis SE. Clinical, biochemical and neuropsychiatric data in a patient with a contiguous gene syndrome associated with a microdeletion Xp11.3 in the Norrie disease locus and MAOA and MAOB genes, Amer J Med Genet 1992; 42:127-134.
Sims KB, Lebo RV, Benson G, Shalish C, Schuback D, Chen ZY, Bruns G, Craig IW, Golbus MS, Breakefield XO. The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.Hum Mol Genet1992; 1:83-89.
Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Monaco A, Breakefield XO, Sims KB, Craig IW. Isolation ahd characterisation of a gene implicated in Norrie disease. Nature Genetics 1992; 1:204-208.
Schuback DE, Adams J, Chen ZY, Battinelli EM, Craig J, Corey DP, Breakefield XO, Sims KB. Identification of mutations in Norrie disease gene and further elucidation of norrin location and function. Amer J Hum Genet 1993; 53:A730
Sims KB, Schuback D, Solc CK, Chen ZY, Craig I and Breakefield XO. The Norrie disease gene: predictions about the encoded protein norrin, and RNA expression studies. Amer J Hum Genet 1992; 51:A43.
Chen Z-Y, Sims KB, Coleman M, Donnai D, Monaco A, Breakefield XO, Davies KE, Craig IW. Character-isation of a YAC containing part or all of the Norrie disease locus. Hum Mol Genet1993; 1:161-164.
Chen Z-Y, Battinelli EM, Hendriks RW, Powell JF, Middleton-Price H, Sims KB, Breakefield XO and Craig IW. Norrie disease gene: Characterization of deletions and possible function. Genomics 1993;16:533-535.
Chen Z-Y, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. Identification of a mutation in the Norrie disease gene (NDP) in affected members of a family with X-linked Familial exudative vitreoretinopathy. Nature Genetics 1993;5:180-182.
Schuback DE, Chen ZY, Battinelli EM, Breakefield XO, Sims KB. Mutations in the Norrie disease gene, Human Mutation 1995; 5:285-292.
Sims KB, Schuback D, Chen ZY, Craig IW, Breakefield XO. Mutational analysis in the Norrie disease gene: an expanding phenotype. Annals of Neuro 1994; 36:A414,490.
Mintz-Hittner HA, Ferrell RE, Sims KB, Fernandez KM, Gemmell BS, Satriano DR, Caster J, Kretzer FL. Peripheral retinopathy in offspring of carriers of Norrie gene mutations, Opthal 1996; 103:2128-2134.
Sims KB, Irvine AR, Good WV Norrie disease in a family with a manifesting female carrier. Archives Opthalmology 1997; 115:517-519.
Rehm H, Gutierrez-Espeleta G, Garcia R, Jimenez G., Khetarpal U, Priest JM, Sims KB, Keats BJB, Morton CC. Norrie gene mutation in a large Costa Rican kindred with a novel phenotype including peripheral vascular disease. Hum Mol Genet 1997; 9:402-408.
Sims KB Norrie Disease. GeneClinics, Medical Genetics Knowledge Base [www.geneclinics.org], 2004
Halpin C, Owen G, Gutierrez-Espeleta GA, Sims K, Rehm HL. Adudiologic features of Norrie disease. Annals of Otology, Rhinology and Laryngology, 2005;114(7):533-538.
Mitochondrial Disorders
Kim HG, Schmahmann J, Sims KB, Falk W, Stern TA. A neuropsychiatric presentation of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Medical Psychiatry 1999; 2:3-9.
Akman CI, Sue CM, Musumari O, Tamji K, Sims K, Rowland LP, Bonilla E, DiMauro S. Maternally inherited mitochondrial encephalomyopathy due to a novel missense mutation in the mtDNA cytochrome c oxidase gene, Amer Neuro Assoc 2000.
Sims KB, Holtzman D. Diseases of adenosine triphosphate synthesis in children. Current Opinions in Neurology, 2002;15:145-150.
Tawakol A, Sims K, MacRae C, Friedman JR, Alpert NM, Fischman A, Gewirtz H. Myocardial regulation in humans with MELAS/MERFF and other mitochondrial syndromes. Coronary artery disease, 2003, 14:197-205
Ahn MS, Sims K, Frazier JA. Risperidone-induced psychosis and depression in a child with a mitochondrial disorder. Journal of Child and adolescent Psychopharmagology. 2005;15(3):520-525.
Lysosomal Storage Disorders
Masek B, Sims KB, Bove C, Korson M, Short P, Norman D. Quality of Life Assessment in Adults with Type 1 Gaucher Disease. Quality of Life Research 1999; 8:263-268.
Larsen EC, Connolly SA, Rosenbery AE [Sims KB respondent] Gaucher Disease. N Engl J Med 2003; 348:2669-77.
Jaynes M, Gutmann L, Schochet SS, Sims KB, Sleat DE, Gal A, Bruck W, Goebel HH. Adult neuronal ceroid-lipofuscinosis. Acta Neuropathologica. 2006, in press.
Neurodevelopmental Disorders
Sims KB, Hoffman DL, Said SI, Zimmerman EA. Vasoactive intestinal polypeptide (VIP) in mouse and rat brain: An immunocytochemical study. Brain Res 1980; 186:165-183.
Barks JD, Silverstein FS, Sims KB, Greenamyre JT, Johnston MV. Glutamate recognition sites in human fetal brain. Neurosci Lett 1987; 84:131-136.
Sims KB, Crandall JE, Kosik KS, Williams RS. Microtubule-associated protein 2 (MAP2) immunoreactivity in human fetal neocortex. Brain Res 1988; 449:192-200.
Hsu Y-PP, Weyler W, Chen S, Sims KB, Rinehart WB, Utterback M, Powell JF, Breakefield XO. Structural features of human monoamine oxidase A elucidated from cDNA and peptide sequences. J Biochem 1988; 51:1321-1324.
Barlow JK, Sims KB, Kolodny EH. Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. Ann Neurol 1989; 25:413-415.
Hsu Y-PP, Powell JF, Sims KB, Breakefield XO. The molecular genetics of the monoamine oxidases. J Biochem 1989; 53:12-18.
Sims KB, Williams RS. The human amygdaloid complex: A cytological and histochemical atlas using Nissl, myelin, acetylcholinesterase (AChE) and nicotinamide adenine dinucleotide phosphate diaphorase (NADPH-d) staining. Neuroscience 1990; 36:449-472.
Abstracts
- Shen Y, Zhu H, Gusella J, Xin W, Sims K. Detecting deletion mutations of NDP gene by MLPA in Norrie disease patients. Amer College of Medical Genetics, 2005, submitted.
- Shen Y, O’Malley Lei, Xin, W, Sims K. Quantifying mosaic ATPA3 gene mutation by MLPA in an asymptomatic RDP mutation carrier. Amer College of Medical Genetics, 2005, submitted.
- Gregory SA, Aziz K, Macrae CA, Sims KB, Morss A, Tawakol A, Schmahmann JD, Fischman AJ, Gewirtz H. Myocardial adaptation to frataxin gene mutation in Friedreich ataxia. Amer heart Association, 2005.
- Ahronowitz K, Xin W, Kiely R, Sims K, MacCollin M, Nunes F. Mutational mapping of the NF2 gene: a meta-analysis of published data and diagnostic laboratory findings. American Society of Human Genetics. 2005.
- Gregory SA, Aziz K, Macrae CA, Sims KB, Tawakol A, Schmahmann J, Fischman AJ, Gewirtz H. Myocardium adapts to frataxin gene mutation in Friedreich's ataxia. American Heart Association. 2005.
- K. Sims. The Pompe Registry: demographics, methods of diagnosis and preliminary genotype-phenotype correlation. American Society of Human Genetics. 2005.
- Condefer K, Deligtisch A, Bressman S, Dure L, Sims K, Saunders-Pullman R. Chorea as the initial presentation of dopa-responsive dystonia. Movement Disorders Meeting. 2005.
- DP Germain, CR Scott, KB Sims, DC Bodensteiner. A rechallenge protocol for successfully reinstituting Fabrazyme therapy in patients with previous IgE antibody production or positive skin testing. American Society of Human Genetics. 2005.
- Ouahchi K, Xin W, Sims K. Identification of Frizzled-4 [Fzd4] mutation in a Norrie patient. American Society Pathology, 2005.
- Charrow J, Banikazemi M, Barranger J, Clark L, Eng CM, Hopkin R, Pastores G, Scott CR, Sims, K, Wilcox W. Understanding the natural history of Fabry disease. Pediatric Academic Socities Meeting. 2004.
- Germain DP, Banikazemi M, WaldekS, Wilcox W, Sims KB, Linthorst G, Scott CR, Wanner C, Charrow J, Greenstein RM, Lee JP. The Fabry Registry: natural history of renal disease and effects of enzyme replacement therapy. J Inherited Metabolic Disease. 2004;27:170.
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