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Last Name
Institution

Katherine B. Sims, M.D.

TitleProfessor of Neurology
InstitutionMassachusetts General Hospital
DepartmentNeurology
AddressMassachusetts General Hospital
CHGR - Simches Research Bldg 5-238
185 Cambridge St
Boston MA 02114
Phone617/726-5718
Fax617/724-9620

 Bibliographic 
 selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Cotman SL, Karaa A, Staropoli JF, Sims KB. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep. 2013 Aug; 13(8):366.
    View in: PubMed
  2. Laney DA, Bennett RL, Clarke V, Fox A, Hopkin RJ, Johnson J, O'Rourke E, Sims K, Walter G. Fabry disease practice guidelines: recommendations of the national society of genetic counselors. J Genet Couns. 2013 Oct; 22(5):555-64.
    View in: PubMed
  3. Germain DP, Weidemann F, Abiose A, Patel MR, Cizmarik M, Cole JA, Beitner-Johnson D, Benistan K, Cabrera G, Charrow J, Kantola I, Linhart A, Nicholls K, Niemann M, Scott CR, Sims K, Waldek S, Warnock DG, Strotmann J. Analysis of left ventricular mass in untreated men and in men treated with agalsidase-ß: data from the Fabry Registry. Genet Med. 2013 Dec; 15(12):958-65.
    View in: PubMed
  4. Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, Hershman SG, Gold NB, Chapman BA, Thorburn DR, Berry GT, Schmahmann JD, Borowsky ML, Mueller DM, Sims KB, Mootha VK. Targeted exome sequencing of suspected mitochondrial disorders. Neurology. 2013 May 7; 80(19):1762-70.
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  5. Smith KR, Dahl HH, Canafoglia L, Andermann E, Damiano J, Morbin M, Bruni AC, Giaccone G, Cossette P, Saftig P, Grötzinger J, Schwake M, Andermann F, Staropoli JF, Sims KB, Mole SE, Franceschetti S, Alexander NA, Cooper JD, Chapman HA, Carpenter S, Berkovic SF, Bahlo M. Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Hum Mol Genet. 2013 Apr 1; 22(7):1417-23.
    View in: PubMed
  6. Kohan R, Carabelos MN, Xin W, Sims K, Guelbert N, Cismondi IA, Pons P, Alonso GI, Troncoso M, Witting S, Pearce DA, Dodelson de Kremer R, Oller-Ramírez AM, Noher de Halac I. Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. Gene. 2013 Mar 1; 516(1):114-21.
    View in: PubMed
  7. Li S, Sheng J, Hu JK, Yu W, Kishikawa H, Hu MG, Shima K, Wu D, Xu Z, Xin W, Sims KB, Landers JE, Brown RH, Hu GF. Ribonuclease 4 protects neuron degeneration by promoting angiogenesis, neurogenesis, and neuronal survival under stress. Angiogenesis. 2013 Apr; 16(2):387-404.
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  8. van der Ploeg AT, Barohn R, Carlson L, Charrow J, Clemens PR, Hopkin RJ, Kishnani PS, Laforêt P, Morgan C, Nations S, Pestronk A, Plotkin H, Rosenbloom BE, Sims KB, Tsao E. Open-label extension study following the Late-Onset Treatment Study (LOTS) of alglucosidase alfa. Mol Genet Metab. 2012 Nov; 107(3):456-61.
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  9. Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012 Aug; 158A(8):1909-17.
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  10. Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13; 91(1):202-8.
    View in: PubMed
  11. Staropoli JF, Xin W, Barone R, Cotman SL, Sims KB. An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. BMC Med Genet. 2012; 13:50.
    View in: PubMed
  12. Smith KR, Damiano J, Franceschetti S, Carpenter S, Canafoglia L, Morbin M, Rossi G, Pareyson D, Mole SE, Staropoli JF, Sims KB, Lewis J, Lin WL, Dickson DW, Dahl HH, Bahlo M, Berkovic SF. Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. Am J Hum Genet. 2012 Jun 8; 90(6):1102-7.
    View in: PubMed
  13. Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012 Apr 27; 149(3):525-37.
    View in: PubMed
  14. Brown JA, Min J, Staropoli JF, Collin E, Bi S, Feng X, Barone R, Cao Y, O'Malley L, Xin W, Mullen TE, Sims KB. SOD1, ANG, TARDBP and FUS mutations in amyotrophic lateral sclerosis: a United States clinical testing lab experience. Amyotroph Lateral Scler. 2012 Feb; 13(2):217-22.
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  15. Velinov M, Dolzhanskaya N, Gonzalez M, Powell E, Konidari I, Hulme W, Staropoli JF, Xin W, Wen GY, Barone R, Coppel SH, Sims K, Brown WT, Züchner S. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. PLoS One. 2012; 7(1):e29729.
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  16. Nosková L, Stránecký V, Hartmannová H, Pristoupilová A, Barešová V, Ivánek R, Hulková H, Jahnová H, van der Zee J, Staropoli JF, Sims KB, Tyynelä J, Van Broeckhoven C, Nijssen PC, Mole SE, Elleder M, Kmoch S. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet. 2011 Aug 12; 89(2):241-52.
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  17. Sharma N, Armata IA, Multhaupt-Buell TJ, Ozelius LJ, Xin W, Sims KB. Mutation in 5' upstream region of GCHI gene causes familial dopa-responsive dystonia. Mov Disord. 2011 Sep; 26(11):2140-1.
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  18. Burlina AP, Sims KB, Politei JM, Bennett GJ, Baron R, Sommer C, Møller AT, Hilz MJ. Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel. BMC Neurol. 2011; 11:61.
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  19. Sims KB, Cole AJ, Sherman JC, Caruso PA, Snuderl M. Case records of the Massachusetts General Hospital. Case 8-2011. A 32-year-old woman with seizures and cognitive decline. N Engl J Med. 2011 Mar 17; 364(11):1062-74.
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  20. Watt T, Burlina AP, Cazzorla C, Schönfeld D, Banikazemi M, Hopkin RJ, Martins AM, Sims K, Beitner-Johnson D, O'Brien F, Feldt-Rasmussen U. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med. 2010 Nov; 12(11):703-12.
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  21. Staropoli JF, Xin W, Sims KB. Co-segregation of Norrie disease and idiopathic pulmonary hypertension in a family with a microdeletion of the NDP region at Xp11.3-p11.4. J Med Genet. 2010 Nov; 47(11):786-90.
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  22. Xin W, Mullen TE, Kiely R, Min J, Feng X, Cao Y, O'Malley L, Shen Y, Chu-Shore C, Mole SE, Goebel HH, Sims K. CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. Neurology. 2010 Feb 16; 74(7):565-71.
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  23. Shaham O, Slate NG, Goldberger O, Xu Q, Ramanathan A, Souza AL, Clish CB, Sims KB, Mootha VK. A plasma signature of human mitochondrial disease revealed through metabolic profiling of spent media from cultured muscle cells. Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4):1571-5.
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  24. Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. Eur Heart J. 2010 May; 31(9):1088-97.
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  25. Sleat DE, Ding L, Wang S, Zhao C, Wang Y, Xin W, Zheng H, Moore DF, Sims KB, Lobel P. Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology. Mol Cell Proteomics. 2009 Jul; 8(7):1708-18.
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  26. Costello DJ, Sims KB. Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. Neurology. 2009 Apr 7; 72(14):1279-80.
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  27. Olivova P, van der Veen K, Cullen E, Rose M, Zhang XK, Sims KB, Keutzer J, Browning MF. Effect of sample collection on alpha-galactosidase A enzyme activity measurements in dried blood spots on filter paper. Clin Chim Acta. 2009 May; 403(1-2):159-62.
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  28. Luciano MS, Ozelius L, Sims K, Raymond D, Liu L, Saunders-Pullman R. Responsiveness to levodopa in epsilon-sarcoglycan deletions. Mov Disord. 2009 Feb 15; 24(3):425-8.
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  29. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke. 2009 Mar; 40(3):788-94.
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  30. Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD. Adult Ooset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathology. 2009; 19(1):39-47.
  31. Costello DJ, Sims KB. efficacy of lamotrigine in disabling myoclonus in a patient with a mtDNA A3243G mutation. Neurology, in press. 2009.
  32. Halpin C, Sims K. Twenty years of audiology in a patient with Norrie disease. Int J Pediatr Otorhinolaryngol. 2008 Nov; 72(11):1705-10.
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  33. Staley K, Sims KB, Grant PE, Hedley-Whyte ET. Clinicopathological Conference - 8 day-old boy with weakness and lethargy. New England Journal of Medicine. 2008; 359(11):1085-1191.
  34. Staley KJ, Sims KB, Grant PE, Hedley-Whyte ET. Case records of the Massachusetts General Hospital. Case 28-2008. An 8-day-old infant with congenital deafness, lethargy, and hypothermia. N Engl J Med. 2008 Sep 11; 359(11):1156-67.
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  35. Condefer K, Deligtisch A, Bressman S, Dure L, Sims K, Suanders-Pullman R. Chorea as the initial presentation of dopa-responsive dystonia. Movement Disorders Meeting. 2008.
  36. Bodensteiner D, Scott CR, Sims KB, Shepherd GM, Cintron RD, Germain DP. Successful reinstitution of agalsidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genet Med. 2008 May; 10(5):353-8.
    View in: PubMed
  37. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry Disease Frequently Occurs Before Diagnosis and in the Absence of Other Clinical Events: Natural History Data from the Fabry Registry. Amer Society Human Genetics. 2008.
  38. Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD. Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol. 2009 Jan; 19(1):39-47.
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  39. Browning MF, Sims K. Lysosomal Storage Disorders: Diagnostic and Therapeutic Prospects. The Neurologist, submitted. 2008.
  40. San Luciano M, Ozelius L, Sims K, Raymond D, Liu L,Saunders-Pullman R. Responsiveness to Levodopa in Epsilon-Sarcoglycan Deletions. Movement disorders, submitted. 2008.
  41. Sims KB, Pastores GM, Weinreb NJ, Barranger J, Rosenbloom BE, Packman S, Kaplan P, Mankin H, Xavier R, Angell J, Fitzpatrick MA, Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin Genet. 2008 May; 73(5):430-40.
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  42. Shen Y, Zhu H, Xin W, Gusella J, Sims K. Detecting deletion mutations of NDP gene by MLPA in Norrie disease patients. in preparation. 2008.
  43. Bodensteiner D, Scott CR, Sims KB, Shepherd G, Cintron RD, Germain DP. Successful reinstitution of agalisidase beta therapy in Fabry disease patients with previous IgE-antibody or skin-test reactivity to the recombinant enzyme. Genetics in Medicine. 2008; 10(5):353-358.
  44. Sims KB, Banikazemi M, Politei J, Germaine D, Waldek S, Lee P . Neurologic manifestations of Fabry disease: observational data from the International Fabry Registry. Stroke, in press. 2008.
  45. Wu JC, Ho CY, Skalie H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD. Cardiovascular manifestations of Fabry disease. J Amer College Cardiology, in press. 2008.
  46. Smith SE, Klein D, Graham D, Xin W, Rehm HL, Sims K. Norrie disease: clinical and molecular description of 156 patients. in preparation. 2008.
  47. Xin W, Chu-Shore C, Shen Y, Kiely R, Lobel P, Sleat D, Sims K. CLN5 mutation spectrum demonstrates broad ethnic and age of onset diversity: report of 6 novel juvenile-onset cases. in preparation. 2008.
  48. Schmidt C, Smith SE, Xin W, Sims K. Norrie disease molecular and clinical characterization: 165 cases identified in a clinical DNA testing lab over 13 years. in preparation. 2008.
  49. Wu D, Yu W, Kishikawa H, Folkerth RD, Iafrate AJ, Shen Y, Xin W, Sims K, Hu GF. Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis. Ann Neurol. 2007 Dec; 62(6):609-17.
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  50. Wilcox WR, Oliveira JP, Hopkin RJ, Ortiz A, Banikazemi M, Feldt-Rasmussen U, Sims K, Waldek S, Pastores GM, Lee P, Eng CM, Marodi L, Stanford KE, Breunig F, Wanner C, Warnock DG, Lemay RM, Germain DP. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008 Feb; 93(2):112-28.
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  51. Weinreb N, Barranger J, Packman S, Prakash-Cheng A, Rosenbloom B, Sims K, Angell J, Skrinar A, Pastores GM. Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher disease. Clin Genet. 2007 Jun; 71(6):576-88.
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  52. Gregory SA, MacRae CA, Aziz K, Sims KB, Schmahmann JD, Kardan A, Morss AM, Ellinor PT, Tawakol A, Fischman AJ, Gewirtz H. Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy. Coron Artery Dis. 2007 Feb; 18(1):15-22.
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  53. Xin W, Shen Y, Kluwe L, Feng X, Kiely R, O'Malley L, Gusella J, Sims K. Detection and quantification of Neurofibromatosis type 2 [NF2] genetic mosaicism by SSCP with manual sequencing and ligation-dependent probe amplificaiton [LDPA]. Aspen Neruofibromatosis Annual Meeting. 2007.
  54. Cismondi IA, Kohan R, Dodelson de Kremer R, Guelbert N, Muller VJ, Mole S, Xin W, Sims K, Fietz MJ, Santorelli FM, Noher de Halac I. Characterization of Neuronal Ceroid Lipofuscinoses in Argentina. SSIEM 2007. 2007.
  55. Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes FP. Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Hum Mutat. 2007 Jan; 28(1):1-12.
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  56. Ahronowitz I, Xin W, Kiely R, Sims K, MacCollin M, Nunes F. Mutational mapping of the NF2 gene: a meta-analysis of 12 years of published data and diagnostic laboratory findings. Human Mutation. 2007; 28(1):1-12.
  57. Jansen AC, Sancak O, D'Agostino MD, Badhwar A, Roberts P, Gobbi G, Wilkinson R, Melanson D, Tampieri D, Koenekoop R, Gans M, Maat-Kievit A, Goedbloed M, van den Ouweland AM, Nellist M, Pandolfo M, McQueen M, Sims K, Thiele EA, Dubeau F, Andermann F, Kwiatkowski DJ, Halley DJ, Andermann E. Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. Ann Neurol. 2006 Nov; 60(5):528-39.
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  58. Sims KB, Barranger J, Kaplan P, Mankin H, Packman S, Pastores GM, Rosenbloom R, Rosenthal D, Angell J, Fitzpatrick MA, Weinreb N. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type I Gaucher Disease: results of a 48-month longitudinal cohort study. Amer Society Human Genetics. 2006.
  59. 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. Genet Med. 2006 Sep; 8(9):539-48.
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  60. Venna N, Sims KB, Grant PE. Case records of the Massachusetts General Hospital. Case 26-2006. A 19-year-old woman with difficulty walking. N Engl J Med. 2006 Aug 24; 355(8):831-9.
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  61. N. Winreb, J. Barranger, P. Kaplan, H. Mankin, S. Packman, G. Pastores, B. Rosenbloom, K. Sims. Long-term Improvement of Bone Disease and Quality of Life Scores Following Cerezyme therapy in Patients with Skeletal Mainifestations of Type 1 Gaucher Disease. EWGGD Workshop. 2006.
  62. Sims KB. Norrie Disease. In: GeneClinics, Medical Genetics Knowledge Bases [www.geneclinics.org]. 2006.
  63. Barnett S, Krishnamoorthy K, Sims KB. Leighs disease - infantile cases. Child Neurology Society meeting. 2006.
  64. Shen Y, Zhu H, Xin W, Gusella J, Sims K. Detecting deletion mutations of NDP gene by MLPA in Norrie disease patients. American Sociaty of Human Genetics Annual Meeting. 2006.
  65. Nagagopal V, Sims KB, Grant PE. case 26-2006: A 19-Year-Old Woman with Difficulty Walking [Dopa-Responsive Dystonia]. New England Journal of Medicine. 2006; 355:831-839.
  66. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcos WR. Fabry disease: guidelines for the evaluation and management of multi-organ system involvment. Genetics in Medicine. 2006; 8(9):539-548.
  67. Zhu H, Shen Y, Smith S, Gusella J, Xin W, Sims K. Identification of large deletions involving NDP gene may help to understand the variant clinical manifestations in Norrie disease patients. MGH Research Symposium. 2006.
  68. Shen Y, O'Malley L, Sims K, Xin w. Quantifying mosaic ATP1A3 gene mutation by MLPA in an asymptomatic RDP mutation carrier. American College of Medical Genetics Annual Meeting. 2006.
  69. Jansen A, D'Agostino D, Badhwar A, Sancak O, Andermann F, Dubeau F, Kwiatkowski D, Sims K, Thiele E, Pandolfo M, Andermann E. Mild form of Tuberous Sclerosis Complex is associated with TSC2 R905Q mutation. Annals of Neurology. 2006; 60:528-539.
  70. Smith SE, Klein D, Shen Y, Kiely R, Zhu H, Xin W, Rehm H, Sims K. Norrie disease: an update of the extra-ocular phenotype. American College of Medical Genetics Annual Meeting. 2006.
  71. Sims, KB. NDP-Related Retinopathies. GeneReviews at GeneTests: Medical Genetics Information Resource: http://www.geneclinics.org. 2006.
  72. Zhu H, Shen Y, Smith SE, Gusella J, Xin W, Sims K. Identification and characterization of submicroscopic deletions involving the Norrie disease (NDP) gene. Child Neurology Society Meeting. 2006.
  73. Smith SE, Klein D, Graham D, Shen Y, Zhu H, Xin W, Rehm H, Sims K. Norrie disease mutation spectrum and genotype-phenotype correlations. MGH Research Day. 2006.
  74. Mankin HJ, Sims KB, Bove CM. Erlenmeyer flasking of a child's bones: a diagnostic puzzle. Am J Orthop (Belle Mead NJ). 2005 Aug; 34(8):393-5.
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  75. Halpin C, Owen G, Gutiérrez-Espeleta GA, Sims K, Rehm HL. Audiologic features of Norrie disease. Ann Otol Rhinol Laryngol. 2005 Jul; 114(7):533-8.
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  76. Ahn MS, Sims KB, Frazier JA. Risperidone-induced psychosis and depression in a child with a mitochondrial disorder. J Child Adolesc Psychopharmacol. 2005 Jun; 15(3):520-5.
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  77. K. Sims. The Pompe Registry: demographics, methods of diagnosis and preliminary genotype-phenotype correlation. American Society of Human Genetics. 2005.
  78. K Sims. Lysosomal Storage Diseases. 2005.
  79. DP Germain, CR Scott, K Sims, D Bodensteiner. A rechallenge protocol for successfully re-instituting Fabrazyme therapy in patients with previous infusion-associated hypersensitivity reactions. European Study Group on Lysosomal Disorders [ESGLD] Workshop. 2005.
  80. 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.
  81. 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.
  82. Clarke LA, Barranger J, Hopkin R, Banikazemi M, Charrow J, Eng CM, Pastores G, Scott CR, Sims K, Warnock D, Wilcox W. Fabry disease presenting in the pediatric age groups: clinical and ethical concerns. American College Medical Genetics Meeting. 2005.
  83. CondeferK, Deligtisch A, Bressman S, Dure L, Sims K, Saunders-Pullman R. Chorea as the initial presentation of dopa-responsive dystonia. 2005.
  84. Sims, KB. Genetic Testing. 2004.
  85. Sims KB. Norrie Disease. GeneClinics, Medical Genetics Knowledge Bases [www.geneclinics.org]. 2004.
  86. Andersen PM, Sims KB, Xin WW, Kiely R, O'Neill G, Ravits J, Pioro E, Harati Y, Brower RD, Levine JS, Heinicke HU, Seltzer W, Boss M, Brown RH. Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Jun; 4(2):62-73.
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  87. Tawakol A, Sims K, MacRae C, Friedman JR, Alpert NM, Fischman AJ, Gewirtz H. Myocardial flow regulation in people with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes/myoclonic epilepsy and ragged red fibers and other mitochondrial syndromes. Coron Artery Dis. 2003 May; 14(3):197-205.
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  88. Tawakol A, Sims K, MacRae C, Friedman JR, Alpert NM, Fischman A, Gewirtz H. Myocardial regulstion in humans with MELAS/MERFF and other mitochondrial syndromes. Coronary Artery Disease. 2003; 14:197-205.
  89. Larsen EC, Connolly SA, Rosenbery AD [Sims KB respondent]. Gaucher disease. New England Journal Medicine. 2003; 348:2669-2677.
  90. Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Bissler J, Thiele EA, Sims K, Kwiatkowski DJ. Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. Am J Hum Genet. 2002 Oct; 71(4):750-8.
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  91. Sims K, Holtzman D. Diseases of adenosine triphosphate synthesis in children. Curr Opin Neurol. 2002 Apr; 15(2):145-50.
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  92. Dabora SL, Roberts P, Nieto A, Perez R, Jozwiak S, Franz D, Thiele E, Sims K, Kwaitkowski DJ. Association of a high expressing interferon-gamma allele with a lower frequency of kidney angiomyolipomas in TSC2 patients. American Journal Human Genetics. 2002; 71:750-758.
  93. Sims KB, Holtzman D. Disease of adenosine triphosphate synthesis in children. Current Opinions in Neurology. 2002; 15:145-150.
  94. Sims, K. Medical Approaches to Genetic Testing in Adoption. The Ethics of Genetic Testing in Adoption. 2002; 55-73.
  95. Sims KB. Von Hippel-Lindau disease: gene to bedside. Curr Opin Neurol. 2001 Dec; 14(6):695-703.
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  96. Niida Y, Stemmer-Rachamimov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V. Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions. Am J Hum Genet. 2001 Sep; 69(3):493-503.
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  97. Niida Y, Stemmer-Rachaminov AO, Logrip M, Tapon D, Perez R, Kwiatkowski DJ, Sims K, MacCollin M, Louis DN, Ramesh V. Survey of somatic mutaitons in TSC hamartomas suggests different genetic mechanism for pathogenesis of TSC lesions. American Journal Human Genetics. 2001; 69:269-277.
  98. Friedman JF, Sims KB. Epidemiology of Neurogenetic Disorders. In: Batchelor T and Cudkowicz M, eds. Principles of Neuroepidemiology. 2001; 323-364.
  99. 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 mutaiton in the mtDNA cytochorme c oxidase gene. Ameri Neurologic Association. 2000.
  100. Sims KB. Neurogenetics DNA Diagnostic Lab. 2000.
  101. Sims KB. Gaucher Disease. 2000.
  102. Sims KB. Late Onset Tay-Sachs. 2000.
  103. Masek BJ, Sims KB, Bove CM, Korson MS, Short P, Norman DK. Quality of life assessment in adults with type 1 Gaucher disease. Qual Life Res. 1999 May; 8(3):263-8.
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  104. Schuback DE, Mulligan EL, Sims KB, Tivol EA, Greenberg BD, Chang SF, Yang SL, Mau YC, Shen CY, Ho MS, Yang NH, Butler MG, Fink S, Schwartz CE, Berlin F, Breakefield XO, Murphy DL, Hsu YP. Screen for MAOA mutations in target human groups. Am J Med Genet. 1999 Feb 5; 88(1):25-8.
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  105. Sims KB. Norrie Disease. GeneClinics, Medical Genetics Knowledge Bases [www.geneclinics.org]. 1999.
  106. Niida Y, Lawrence-Smith 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. Hum Mutat. 1999; 14(5):412-22.
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  107. 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; 14:412-422.
  108. Klein C, Friedman J, Bressman S, Vieregge P, Brin MF, Pramstaller PP, De Leon D, Hagenah J, Sieberer M, Fleet C, Kiely R, Xin W, Breakefield XO, Ozelius LJ, 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. Genet Test. 1999; 3(4):323-8.
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  109. Murphy DL, Sims K, 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; 52:29-38.
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  110. Beauchamp RL, Banwell A, McNamara P, Jacobsen M, Higgins E, Northrup H, Short P, Sims K, Ozelius L, Ramesh V. Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis. Hum Mutat. 1998; 12(6):408-16.
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  111. Adickes ED, Folkerth RD, Sims KL. Use of perfusion fixation for improved neuropathologic examination. Arch Pathol Lab Med. 1997 Nov; 121(11):1199-206.
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  112. Sims KB, Irvine AR, Good WV. Norrie disease in a family with a manifesting female carrier. Arch Ophthalmol. 1997 Apr; 115(4):517-9.
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  113. Rehm HL, Gutiérrez-Espeleta GA, Garcia R, Jiménez G, Khetarpal U, Priest JM, Sims KB, Keats BJ, Morton CC. Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency. Hum Mutat. 1997; 9(5):402-8.
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  114. Ozelius LJ, Bressman S, Kramer P, Risch N, Brin M, de Leon D, Sims KB, Gusella JF, Fahn S, Breakefield XO. Torsion Dystonia. In: Desnick R. Advances in Jewish Genetic Diseases. 1997.
  115. 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 disease gene mutations. Possible transplacental effect of abnormal Norrin. Ophthalmology. 1996 Dec; 103(12):2128-34.
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  116. Natowicz MR, Short MP, Wang Y, Dickersin GR, Gebhardt MC, Rosenthal DI, Sims KB, Rosenberg AE. Clinical and biochemical manifestations of hyaluronidase deficiency. N Engl J Med. 1996 Oct 3; 335(14):1029-33.
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  117. Provenzale JM, Barboriak DP, Sims K. Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease. AJNR Am J Neuroradiol. 1995 Apr; 16(4 Suppl):809-13.
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  118. Schuback DE, Chen ZY, Craig IW, Breakefield XO, Sims KB. Mutations in the Norrie disease gene. Hum Mutat. 1995; 5(4):285-92.
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  119. Bonneman CG, Lerman-Sagie T, Kosofsky BE, Robinson BH, Sotrel A, Cougherty FE, Sims KB. Leigh's disease due to complex I deficiency presenting as leukodystrophy. Amer Journal Human Genetics. 1994; A608.
  120. Sims KB, Schuback D, Chen ZY, Craig IW, Breakefield XO. Mutation alaysis in the Norrie disease gene: an expanding phenotype. Annals of Neurology. 1994; 36:A414, 490.
  121. Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993 Oct; 5(2):180-3.
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  122. Chen ZY, Battinelli EM, Hendriks RW, Powell JF, Middleton-Price H, Sims KB, Breakefield XO, Craig IW. Norrie disease gene: characterization of deletions and possible function. Genomics. 1993 May; 16(2):533-5.
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  123. Schuback DE, Adams J, Chen ZY, Battinelli EM, Craig J, Corey DP, Breakfield XO, Sims KB. Identification of mutations in Norrie disease gene and further elucidation of norrin location and function. American Journal Human Genetics. 1993; 53.
  124. Chen ZY, Hendriks RW, Jobling MA, Powell JF, Breakefield XO, Sims KB, Craig IW. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet. 1992 Jun; 1(3):204-8.
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  125. Chen ZY, Sims KB, Coleman M, Donnai D, Monaco A, Breakefield XO, Davies KE, Craig IW. Characterization of a YAC containing part or all of the Norrie disease locus. Hum Mol Genet. 1992 Jun; 1(3):161-4.
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  126. 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 Genet. 1992 May; 1(2):83-9.
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  127. Collins FA, Murphy DL, Reiss AL, Sims KB, Lewis JG, Freund L, Karoum F, Zhu D, Maumenee IH, Antonarakis SE. Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes. Am J Med Genet. 1992 Jan 1; 42(1):127-34.
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  128. Murphy DL, Sims KB, Karoum F, de le Chapelle A, Sankila E-M, Norio R, breakefield XO. Biochemical consequences of an X-chromosomal deletion affecting MAO and evidence that human MAO-A and MAO-B are encoded by genes independent of the gene(s) for plasma amine oxidase. In: Riederer P and Yondim MBH, eds. Amine Oxidases and Their Impact on Neurobiology. 1992.
  129. 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. American Journal Medical Genetics. 1992; 42:127-134.
  130. Chen Z-Y, Hendriks RW, Jobling MA, Powell JF, Monaco A, Breakefield XO, Sims KB, Craig IW. Isolation and characterization of a gene implicated in Norrie gene. Nature Genetics. 1992; 1:204-208.
  131. Sims KB, Schuback D, Solc CK, Chen ZY, Craig I, Breakefield XO. The Norrie disease gene: predictions about the encoded protein norrin, and RNA expression studies. American Journal Human Genetics. 1992; 51:A43.
  132. Joy JE, Poglod R, Murphy DL, Sims KB, de la Chapelle A, Sankila EM, Norio R, Merril CR. Abnormal protein in the cerebrospinal fluid of patients with a submicroscopic X-chromosomal deletion associated with Norrie disease: preliminary report. Appl Theor Electrophor. 1991; 2(1):3-5.
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  133. Murphy DL, Sims KB, Karoum F, Garrick NA, de la Chapelle A, Sankila EM, 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(1-2):1-12.
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  134. Sims KB, Caviness VS. Molecular genetics and mental retardation. In: Brosius J, Fremeau RT, eds. Molecular Genetic Approaches in Neuropsychiatric Diseases. 1991; 367-425.
  135. Sims KS, Williams RS. The human amygdaloid complex: a cytologic and histochemical atlas using Nissl, myelin, acetylcholinesterase and nicotinamide adenine dinucleotide phosphate diaphorase staining. Neuroscience. 1990; 36(2):449-72.
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  136. Murphy DL, Sims KB, Karoum F, de la Chapelle A, Norio R, Sankila EM, Breakefield XO. Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase. J Neurochem. 1990 Jan; 54(1):242-7.
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  137. Diergaarde PJ, Wieringa B, Bleeker-Wagemakers EM, Sims KB, Breakefield XO, Ropers HH. Physical fine-mapping of a deletion spanning the Norrie gene. Hum Genet. 1989 Dec; 84(1):22-6.
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  138. Sims KB, Ozelius L, Corey T, Rinehart WB, Liberfarb R, Haines J, Chen WJ, Norio R, Sankila E, de la Chapelle A, et al. Norrie disease gene is distinct from the monoamine oxidase genes. Am J Hum Genet. 1989 Sep; 45(3):424-34.
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  139. Hsu YP, Powell JF, Sims KB, Breakefield XO. Molecular genetics of the monoamine oxidases. J Neurochem. 1989 Jul; 53(1):12-8.
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  140. Barlow JK, Sims KB, Kolodny EH. Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. Ann Neurol. 1989 Apr; 25(4):413-5.
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  141. Sims KB, de la Chapelle A, Norio R, Sankila EM, Hsu YP, Rinehart WB, Corey TJ, Ozelius L, Powell JF, Bruns G, et al. Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron. 1989 Jan; 2(1):1069-76.
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  142. Hsu YP, Weyler W, Chen S, Sims KB, Rinehart WB, Utterback MC, Powell JF, Breakefield XO. Structural features of human monoamine oxidase A elucidated from cDNA and peptide sequences. J Neurochem. 1988 Oct; 51(4):1321-4.
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  143. Sims KB, Crandall JE, Kosik KS, Williams RS. Microtubule-associated protein 2 (MAP 2) immunoreactivity in human fetal neocortex. Brain Res. 1988 May 24; 449(1-2):192-200.
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  144. Barks JD, Silverstein FS, Sims K, Greenamyre JT, Johnston MV. Glutamate recognition sites in human fetal brain. Neurosci Lett. 1988 Jan 22; 84(2):131-6.
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  145. Sims KB, Hoffman DL, Said SI, Zimmerman EA. Vasoactive intestinal polypeptide (VIP) in mouse and rat brain: an immunocytochemical study. Brain Res. 1980 Mar 17; 186(1):165-83.
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  146. Kauffman FC, Pickel VM, Sims KL, Bloom FE. Localization of nicotinamide adenine dinucleotide phosphate-dependent dehydrogenases in catecholamine-containing neurons of rat brain. Studies on the nucleus locus ceruleus. J Histochem Cytochem. 1974 Jan; 22(1):20-8.
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  147. Sims KL, Kauffman FC, Johnson EC, Pickel VM. Cytochemical localization of brain nicotinamide adenine dinucleotide phosphate (oxidized)-dependent dehydrogenases. Qualitative and quantitative distributions. J Histochem Cytochem. 1974 Jan; 22(1):7-19.
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