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Fuki Marie Hisama, M.D.

TitleLecturer on Pediatrics
InstitutionChildren's Hospital Boston
DepartmentPediatrics
AddressChildrens Hospital
Genetics and Metabolism - F 10
300 Longwood Ave
Boston MA 02115
Phone617/355-4697

 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. Berg JS, Amendola LM, Eng C, Allen EV, Gray SW, Wagle N, Rehm HL, Dechene ET, Dulik MC, Hisama FM, Burke W, Spinner NB, Garraway L, Green RC, Plon S, Evans JP, Jarvik GP. Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7.
    View in: PubMed
  2. Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 Oct 3; 93(4):631-40.
    View in: PubMed
  3. Stobbe G, Liu Y, Wu R, Hudgings LH, Thompson O, Hisama FM. Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. Genet Med. 2014 Jan; 16(1):70-7.
    View in: PubMed
  4. Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, Hisama FM, Jarvik GP, Regier DA, Veenstra DL. Return of incidental findings in genomic medicine: measuring what patients value-development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genet Med. 2013 Nov; 15(11):873-81.
    View in: PubMed
  5. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73.
    View in: PubMed
  6. Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203.
    View in: PubMed
  7. Hisama FM, Kubisch C, Martin GM, Oshima J. Clinical utility gene card for: Werner syndrome. Eur J Hum Genet. 2012 May; 20(5).
    View in: PubMed
  8. Hisama FM, Lessel D, Leistritz D, Friedrich K, McBride KL, Pastore MT, Gottesman GS, Saha B, Martin GM, Kubisch C, Oshima J. Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A. Am J Med Genet A. 2011 Dec; 155A(12):3002-6.
    View in: PubMed
  9. Bachmann-Gagescu R, Hisama FM, Yuen AL. Myhre syndrome with ataxia and cerebellar atrophy. Clin Dysmorphol. 2011 Jul; 20(3):156-9.
    View in: PubMed
  10. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5; 153B(4):937-47.
    View in: PubMed
  11. Friedrich K, Lee L, Leistritz DF, Nürnberg G, Saha B, Hisama FM, Eyman DK, Lessel D, Nürnberg P, Li C, Garcia-F-Villalta MJ, Kets CM, Schmidtke J, Cruz VT, Van den Akker PC, Boak J, Peter D, Compoginis G, Cefle K, Ozturk S, López N, Wessel T, Poot M, Ippel PF, Groff-Kellermann B, Hoehn H, Martin GM, Kubisch C, Oshima J. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet. 2010 Jul; 128(1):103-11.
    View in: PubMed
  12. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35.
    View in: PubMed
  13. Yu DC, Pathak B, Vargas SO, Javid PJ, Hisama FM, Wilson JM, Linden BC. Congenital intra-abdominal bilateral juvenile granulosa cell tumors of the testis associated with constitutional loss of material from chromosome 4. Pediatr Dev Pathol. 2011 May-Jun; 14(3):224-7.
    View in: PubMed
  14. Owuor K, Harel NY, Englot DJ, Hisama F, Blumenfeld H, Strittmatter SM. LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology. Mol Cell Neurosci. 2009 Dec; 42(4):448-57.
    View in: PubMed
  15. Dohle CI, Bannykh SI, Hisama FM, Baehring JM. Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis. J Neurol Sci. 2009 Oct 15; 285(1-2):235-7.
    View in: PubMed
  16. Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. J Child Neurol. 2009 May; 24(5):618-24.
    View in: PubMed
  17. Budel S, Padukkavidana T, Liu BP, Feng Z, Hu F, Johnson S, Lauren J, Park JH, McGee AW, Liao J, Stillman A, Kim JE, Yang BZ, Sodi S, Gelernter J, Zhao H, Hisama F, Arnsten AF, Strittmatter SM. Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth. J Neurosci. 2008 Dec 3; 28(49):13161-72.
    View in: PubMed
  18. Veneziano L, Guida S, Mantuano E, Bernard P, Tarantino P, Boccone L, Hisama FM, Carrera P, Jodice C, Frontali M. Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia. J Neurol Sci. 2009 Jan 15; 276(1-2):31-7.
    View in: PubMed
  19. Chiang PW, Fulton AB, Spector E, Hisama FM. Synergistic interaction of the OCA2 and OCA3 genes in a family. Am J Med Genet A. 2008 Sep 15; 146A(18):2427-30.
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  20. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 1; 146A(13):1637-54.
    View in: PubMed
  21. Budel S, Shim SO, Feng Z, Zhao H, Hisama F, Strittmatter SM. No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios. Schizophr Res. 2008 Feb; 99(1-3):365-6.
    View in: PubMed
  22. Novella SP, Hisama FM, Dib-Hajj SD, Waxman SG. A case of inherited erythromelalgia. Nat Clin Pract Neurol. 2007 Apr; 3(4):229-34.
    View in: PubMed
  23. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr; 8(2):131-5.
    View in: PubMed
  24. Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG. Na(V)1.7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons. J Neurosci. 2006 Nov 29; 26(48):12566-75.
    View in: PubMed
  25. Hisama FM, Bohr VA, Oshima J. WRN's tenth anniversary. Sci Aging Knowledge Environ. 2006 May 25; 2006(10):pe18.
    View in: PubMed
  26. Seixas AI, Maurer MH, Lin M, Callahan C, Ahuja A, Matsuura T, Ross CA, Hisama FM, Silveira I, Margolis RL. FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A. 2005 Jul 1; 136(1):87-9.
    View in: PubMed
  27. Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG. Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. 2005 Aug; 128(Pt 8):1847-54.
    View in: PubMed
  28. Hisama FM, Mancuso M, Filosto M, DiMauro S. Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Am J Med Genet A. 2005 Jun 1; 135(2):217-9.
    View in: PubMed
  29. Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23). Am J Med Genet A. 2005 Apr 30; 134(3):282-9.
    View in: PubMed
  30. Hisama FM. Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. Arch Neurol. 2005 Jan; 62(1):135-8.
    View in: PubMed
  31. Weisman D, Hisama FM, Waxman SG, Blumenfeld H. Going deep to cut the link: cortical disconnection syndrome caused by a thalamic lesion. Neurology. 2003 Jun 10; 60(11):1865-6.
    View in: PubMed
  32. Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology. 2003 May 27; 60(10):1687-90.
    View in: PubMed
  33. Hisama FM, Lee HH, Vashlishan A, Tekumalla P, Russell DS, Auld E, Goldstein JM. Clinical and molecular studies in a family with probable X-linked dominant Charcot-Marie-Tooth disease involving the central nervous system. Arch Neurol. 2001 Nov; 58(11):1891-6.
    View in: PubMed
  34. Hisama FM, Mattson RH, Lee HH, Felice K, Petroff OA. GABA and the ornithine delta-aminotransferase gene in vigabatrin-associated visual field defects. Seizure. 2001 Oct; 10(7):505-7.
    View in: PubMed
  35. Hisama FM, Gruen JR, Choi J, Huseinovic M, Grigorenko EL, Pauls D, Mattson RH, Gelernter J, Wood FB, Goei VL. Human GABA(B) receptor 1 gene: eight novel sequence variants. Hum Mutat. 2001 Apr; 17(4):349-50.
    View in: PubMed
  36. Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. Am J Med Genet. 2001 Jan 15; 98(2):121-4.
    View in: PubMed
  37. Hisama FM, Chen YH, Meyn MS, Oshima J, Weissman SM. WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts. Cancer Res. 2000 May 1; 60(9):2372-6.
    View in: PubMed
  38. Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ. Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. Am J Med Genet. 1998 Dec 4; 80(4):335-42.
    View in: PubMed
  39. Hisama FM, Oshima J, Yu CE, Fu YH, Mulligan J, Weissman SM, Schellenberg GD. Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region. Genomics. 1998 Sep 15; 52(3):352-7.
    View in: PubMed
  40. Sharma V, Poorkaj P, Hisama F, Bonnycastle L, Yu CE, Massa H, Trask B, Clancy KP, Patterson D, Weissman SM, Schellenberg GD. An expression map from human chromosome 14q24.3. Genomics. 1998 Jan 15; 47(2):314-8.
    View in: PubMed
  41. Yu CE, Oshima J, Hisama FM, Matthews S, Trask BJ, Schellenberg GD. A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21. Genomics. 1996 Aug 1; 35(3):431-40.
    View in: PubMed
  42. Yu CE, Oshima J, Fu YH, Wijsman EM, Hisama F, Alisch R, Matthews S, Nakura J, Miki T, Ouais S, Martin GM, Mulligan J, Schellenberg GD. Positional cloning of the Werner's syndrome gene. Science. 1996 Apr 12; 272(5259):258-62.
    View in: PubMed
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