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Fuki Marie Hisama

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address1001 Health Sciences Road
Irvine CA 92697-3950
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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. Imprecision medicine: Systematic gaps in reporting variants of uncertain significance (VUS) and their reclassifications. Genet Med. 2025 Sep; 27(9):101501. Folta A, Sedeño Cortés AE, Gupta P, McEwen AE, Kao EY, Horike-Pyne M, Stone J, Shirts BH, Dubard-Gault ME, Fowler DM, Starita LM, Hisama FM, Stergachis AB. PMID: 40542645; PMCID: PMC12354246.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders. J Clin Endocrinol Metab. 2025 Mar 17; 110(4):1044-1052. Sun B, Stamou MI, Stockman SL, Campbell MB, Plummer L, Salnikov KB, Kotan LD, Topaloglu AK, Hisama FM, Davis EE, Seminara SB, Balasubramanian R. PMID: 39290158; PMCID: PMC12168065.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    3. Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. Nat Genet. 2025 Feb; 57(2):469-479. Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Bohaczuk SC, Mao Y, Cheng YH, Ranchalis J, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, Stacey AW, University of Washington Center for Rare Disease Research, Undiagnosed Diseases Network, Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. PMID: 39880924; PMCID: PMC12077378.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    4. Association of Left Ventricular Summit Arrhythmias With Pathogenic Genetic Variants. JACC Clin Electrophysiol. 2025 Apr; 11(4):830-832. Kondamudi N, Stein EJ, Bevan GH, Stergachis AB, Hisama F, Nazer B, Chatterjee NA. PMID: 39895451.
      View in: PubMed   Mentions:    Fields:    
    5. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2025 04; 197(4):e63956. Tan QK, McConkie-Rosell A, Brown RM, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M, Undiagnosed Diseases Network, Adams DR, Hisama FM, Shashi V. PMID: 39629753; PMCID: PMC12057405.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Chromosomal translocation resolves a diagnostic odyssey for familial Ruvalcaba syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63847. Boyd BM, Fang H, Allingham-Hawkins D, Fischer GJ, Peng S, Puryear L, Liu YJ, Hisama FM. PMID: 39189835.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    7. Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. Rare. 2024; 2. Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH, University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network, Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. PMID: 39421685; PMCID: PMC11484756.
      View in: PubMed   Mentions: 1  
    8. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition. bioRxiv. 2023 Sep 27. Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL, University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. PMID: 37808736; PMCID: PMC10557686.
      View in: PubMed   Mentions:
    9. Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome. Geroscience. 2024 04; 46(2):2771-2775. Hisama FM, Pillai RK, Sidorova J, Patterson K, Gokingco C, Yacobi-Bach M, Oshima J. PMID: 37603195; PMCID: PMC10828386.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    10. Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases. NPJ Genom Med. 2023 Aug 10; 8(1):20. Gupta P, Nakamichi K, Bonnell AC, Yanagihara R, Radulovich N, Hisama FM, Chao JR, Mustafi D. PMID: 37558662; PMCID: PMC10412581.
      View in: PubMed   Mentions: 7  
    11. Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. Neurol Genet. 2023 Oct; 9(5):e200090. Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH, for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Networ, Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. PMID: 37560121; PMCID: PMC10409571.
      View in: PubMed   Mentions: 3  
    12. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Ann Clin Transl Neurol. 2023 06; 10(6):1046-1053. Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN), Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. PMID: 37194416; PMCID: PMC10270265.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    13. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. bioRxiv. 2023 Feb 07. Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M, University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN), Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. PMID: 36798371; PMCID: PMC9934537.
      View in: PubMed   Mentions:
    14. Adults with lysosomal storage diseases in the undiagnosed diseases network. Mol Genet Genomic Med. 2022 09; 10(9):e2013. Xiao C, Koziura M, Cope H, Spillman R, Tan K, Hisama FM, Tifft CJ, Toro C. PMID: 35848209; PMCID: PMC9482386.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    15. Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases. J Med Genet. 2022 May 09. Miller DE, Lee L, Galey M, Kandhaya-Pillai R, Tischkowitz M, Amalnath D, Vithlani A, Yokote K, Kato H, Maezawa Y, Takada-Watanabe A, Takemoto M, Martin GM, Eichler EE, Hisama FM, Oshima J. PMID: 35534204; PMCID: PMC9613861.
      View in: PubMed   Mentions: 14     Fields:    
    16. The Current State of Genetic Testing Platforms for Inherited Retinal Diseases. Ophthalmol Retina. 2022 08; 6(8):702-710. Mustafi D, Hisama FM, Huey J, Chao JR. PMID: 35307606; PMCID: PMC9356993.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    17. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 11; 23(11):2029-2037. Manickam K, McClain MR, Demmer LA, Biswas S, Kearney HM, Malinowski J, Massingham LJ, Miller D, Yu TW, Hisama FM, ACMG Board of Directors. PMID: 34211152.
      View in: PubMed   Mentions: 227     Fields:    Translation:Humans
    18. Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome. J Genet Couns. 2021 12; 30(6):1591-1597. Hinshaw JC, Zhao LP, Brimm JE, Payne TH, Hisama FM. PMID: 33881185.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Searching the PDF Haystack: Automated Knowledge Discovery in Scanned EHR Documents. Appl Clin Inform. 2021 03; 12(2):245-250. Kostrinsky-Thomas AL, Hisama FM, Payne TH. PMID: 33763846; PMCID: PMC7990572.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    20. Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes! J Gerontol A Biol Sci Med Sci. 2021 01 18; 76(2):253-259. Martin GM, Hisama FM, Oshima J. PMID: 33295962; PMCID: PMC7812512.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    21. SMAD4 mutations and cross-talk between TGF-β/IFNγ signaling accelerate rates of DNA damage and cellular senescence, resulting in a segmental progeroid syndrome-the Myhre syndrome. Geroscience. 2021 06; 43(3):1481-1496. Kandhaya-Pillai R, Hou D, Zhang J, Yang X, Compoginis G, Mori T, Tchkonia T, Martin GM, Hisama FM, Kirkland JL, Oshima J. PMID: 33428109; PMCID: PMC8190230.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    22. Delayed diagnosis of Williams-Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education. Clin Dysmorphol. 2021 Jan; 30(1):69-70. Gold NB, Nash KA, Perdomo J, Zheng DJ, Power-Hays A, Rainer T, Hisama F, Pober B, Feinberg E. PMID: 33136657.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    23. Diversity, inclusion and equity in medical genetics: The time is now. Am J Med Genet A. 2020 12; 182(12):2817-2819. Quintero-Rivera F, Hisama FM. PMID: 33010189; PMCID: PMC7733726.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    24. Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men. Front Genet. 2020; 11:557341. Deng X, Fang H, Pathak A, Zou AM, Neufeld-Kaiser W, Malouf EA, Failor RA, Hisama FM, Liu YJ. PMID: 33193636; PMCID: PMC7537572.
      View in: PubMed   Mentions: 5  
    25. Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer. J Am Med Inform Assoc. 2020 07 01; 27(9):1443-1449. Payne TH, Zhao LP, Le C, Wilcox P, Yi T, Hinshaw J, Hussey D, Kostrinsky-Thomas A, Hale M, Brimm J, Hisama FM. PMID: 32940694; PMCID: PMC7526466.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    26. Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities. Sci Rep. 2020 06 03; 10(1):9028. Sonoyama T, Stadler LKJ, Zhu M, Keogh JM, Henning E, Hisama F, Kirwan P, Jura M, Blaszczyk BK, DeWitt DC, Brouwers B, Hyvönen M, Barroso I, Merkle FT, Appleyard SM, Wayman GA, Farooqi IS. PMID: 32493978; PMCID: PMC7270116.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    27. Cardiogenetics: a primer for the clinical cardiologist. Heart. 2020 06; 106(12):938-947. Otto CM, Savla JJ, Hisama FM. PMID: 32341133.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    28. Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations. Aging Pathobiol Ther. 2020; 2(2):101-105. Kandhaya-Pillai R, Hisama FM, Bucks SA, Yarzar S, Korovou H, Martin GM, Oshima J. PMID: 32954377; PMCID: PMC7500617.
      View in: PubMed   Mentions: 3  
    29. Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation. Genome Med. 2019 12 20; 11(1):85. Gelman H, Dines JN, Berg J, Berger AH, Brnich S, Hisama FM, James RG, Rubin AF, Shendure J, Shirts B, Fowler DM, Starita LM, Brotman Baty Institute Mutational Scanning Working Group. PMID: 31862013; PMCID: PMC6925490.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    30. CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. Muscle Nerve. 2019 11; 60(5):E28-E30. Freed AS, Weiss MD, Malouf EA, Hisama FM. PMID: 31397905; PMCID: PMC7605170.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    31. Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. Contemp Clin Trials. 2019 09; 84:105820. Niu X, Amendola LM, Hart R, Bennette CS, Heagerty P, Horike-Pyne M, Trinidad SB, Rosenthal EA, Comstock B, Nefcy C, Hisama FM, Bennett RL, Grady WM, Gallego CJ, Tarczy-Hornoch P, Fullerton SM, Burke W, Regier DA, Dorschner MO, Shirts BH, Robertson PD, Nickerson DA, Patrick DL, Jarvik GP, Veenstra DL. PMID: 31400517; PMCID: PMC6741782.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    32. Cornelia de Lange syndrome in diverse populations. Am J Med Genet A. 2019 02; 179(2):150-158. Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, Sirisena ND, Dissanayake VHW, Ferreira CR, Kisling MS, Tanpaiboon P, Uwineza A, Mutesa L, Tekendo-Ngongang C, Wonkam A, Fieggen K, Batista LC, Moretti-Ferreira D, Stevenson RE, Prijoles EJ, Everman D, Clarkson K, Worthington J, Kimonis V, Hisama F, Crowe C, Wong P, Johnson K, Clark RD, Bird L, Masser-Frye D, McDonald M, Willems P, Roeder E, Saitta S, Anyane-Yeoba K, Demmer L, Hamajima N, Stark Z, Gillies G, Hudgins L, Dave U, Shalev S, Siu V, Ades A, Dubbs H, Raible S, Kaur M, Salzano E, Jackson L, Deardorff M, Kline A, Summar M, Muenke M, Linguraru MG, Krantz ID. PMID: 30614194; PMCID: PMC6367950.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    33. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. Mol Genet Genomic Med. 2018 11; 6(6):1148-1156. Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J. PMID: 30393977; PMCID: PMC6305643.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    34. Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington. Genet Med. 2019 06; 21(6):1457-1461. Gay EA, Byers PH, Bennett RL, Bird TD, Hisama FM. PMID: 30327540.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    35. Rare loss of function variants in candidate genes and risk of colorectal cancer. Hum Genet. 2018 Oct; 137(10):795-806. Rosenthal EA, Shirts BH, Amendola LM, Horike-Pyne M, Robertson PD, Hisama FM, Bennett RL, Dorschner MO, Nickerson DA, Stanaway IB, Nassir R, Vickers KT, Li C, Grady WM, Peters U, Jarvik GP, NHLBI GO Exome Sequencing Project. PMID: 30267214; PMCID: PMC6283057.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCTClinical Trials
    36. Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case. World Neurosurg. 2018 Nov; 119:402-415. Ravanpay AC, Barkley A, White-Dzuro GA, Cimino PJ, Gonzalez-Cuyar LF, Lockwood C, Halasz LM, Hisama FM, Ferreira M. PMID: 29981911.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    37. First, do no harm: direct-to-consumer genetic testing. Genet Med. 2019 02; 21(2):510-511. Schleit J, Naylor LV, Hisama FM. PMID: 29904164.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    38. Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome. JAMA. 2018 04 24; 319(16):1663-1664. Hisama FM, Oshima J. PMID: 29710145; PMCID: PMC6368062.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    39. LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes. Am J Kidney Dis. 2018 08; 72(2):296-301. Andeen NK, Schleit J, Blosser CD, Dorschner MO, Hisama FM, Smith KD. PMID: 29246420.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    40. ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes. Hum Mutat. 2018 02; 39(2):255-265. Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Niedernhofer LJ, Oshima J. PMID: 29105242; PMCID: PMC5762268.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    41. Dysfunction of the MDM2/p53 axis is linked to premature aging. J Clin Invest. 2017 Oct 02; 127(10):3598-3608. Lessel D, Wu D, Trujillo C, Ramezani T, Lessel I, Alwasiyah MK, Saha B, Hisama FM, Rading K, Goebel I, Schütz P, Speit G, Högel J, Thiele H, Nürnberg G, Nürnberg P, Hammerschmidt M, Zhu Y, Tong DR, Katz C, Martin GM, Oshima J, Prives C, Kubisch C. PMID: 28846075; PMCID: PMC5617664.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansAnimalsCells
    42. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2017 08; 19(8):962. Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C. PMID: 28777376.
      View in: PubMed   Mentions:    Fields:    
    43. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome. Am J Med Genet A. 2017 Feb; 173(2):471-478. Purizaca-Rosillo N, Mori T, Benites-Cóndor Y, Hisama FM, Martin GM, Oshima J. PMID: 27868354; PMCID: PMC5247312.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansCells
    44. Biochemical and imaging surveillance in Li-Fraumeni syndrome. Lancet Oncol. 2016 11; 17(11):e472. Raskind WH, Hisama FM, Bennett RL. PMID: 27819239.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    45. WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects. Hum Mutat. 2017 01; 38(1):7-15. Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. PMID: 27667302; PMCID: PMC5237432.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansAnimals
    46. Is "incidental finding" the best term?: a study of patients' preferences. Genet Med. 2017 02; 19(2):176-181. Tan N, Amendola LM, O'Daniel JM, Burt A, Horike-Pyne MJ, Boshe L, Henderson GE, Rini C, Roche MI, Hisama FM, Burke W, Wilfond B, Jarvik GP. PMID: 27490114; PMCID: PMC5291803.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    47. Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084. Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID. PMID: 27171546; PMCID: PMC5557020.
      View in: PubMed   Mentions: 79     Fields:    Translation:Humans
    48. How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative. Cold Spring Harb Perspect Med. 2016 Apr 01; 6(4):a025882. Hisama FM, Oshima J, Martin GM. PMID: 26931459; PMCID: PMC4817739.
      View in: PubMed   Mentions: 16     Fields:    Translation:Humans
    49. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genet Med. 2016 11; 18(11):1143-1150. Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. PMID: 26986877.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    50. Improving performance of multigene panels for genomic analysis of cancer predisposition. Genet Med. 2016 10; 18(10):974-81. Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC. PMID: 26845104.
      View in: PubMed   Mentions: 55     Fields:    Translation:Humans
    51. Next Generation Sequencing in the Clinic: a Patterns of Care Study in a Retrospective Cohort of Subjects Referred to a Genetic Medicine Clinic for Suspected Lynch Syndrome. J Genet Couns. 2016 06; 25(3):515-9. Gallego CJ, Perez ML, Burt A, Amendola LM, Shirts BH, Pritchard CC, Hisama FM, Bennett RL, Veenstra DL, Jarvik GP. PMID: 26637299.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    52. ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. Neurology. 2015 Dec 08; 85(23):2026-35. Chen DH, Méneret A, Friedman JR, Korvatska O, Gad A, Bonkowski ES, Stessman HA, Doummar D, Mignot C, Anheim M, Bernes S, Davis MY, Damon-Perrière N, Degos B, Grabli D, Gras D, Hisama FM, Mackenzie KM, Swanson PD, Tranchant C, Vidailhet M, Winesett S, Trouillard O, Amendola LM, Dorschner MO, Weiss M, Eichler EE, Torkamani A, Roze E, Bird TD, Raskind WH. PMID: 26537056; PMCID: PMC4676753.
      View in: PubMed   Mentions: 57     Fields:    Translation:Humans
    53. Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice. Cancer. 2016 Feb 01; 122(3):393-401. Cohen SA, Laurino M, Bowen DJ, Upton MP, Pritchard C, Hisama F, Jarvik G, Fichera A, Sjoding B, Bennett RL, Naylor L, Jacobson A, Burke W, Grady WM. PMID: 26480326; PMCID: PMC4724321.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansPHPublic Health
    54. POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome. Hum Mutat. 2015 Nov; 36(11):1070-9. Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C. PMID: 26172944; PMCID: PMC4684254.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    55. Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis. J Clin Oncol. 2015 Jun 20; 33(18):2084-91. Gallego CJ, Shirts BH, Bennette CS, Guzauskas G, Amendola LM, Horike-Pyne M, Hisama FM, Pritchard CC, Grady WM, Burke W, Jarvik GP, Veenstra DL. PMID: 25940718; PMCID: PMC4461806.
      View in: PubMed   Mentions: 61     Fields:    Translation:Humans
    56. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar; 25(3):305-15. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. PMID: 25637381; PMCID: PMC4352885.
      View in: PubMed   Mentions: 203     Fields:    Translation:Humans
    57. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. PMID: 25516202; PMCID: PMC4378009.
      View in: PubMed   Mentions: 45     Fields:    Translation:Humans
    58. Clinical utility gene card for: Werner Syndrome--Update 2014. Eur J Hum Genet. 2015 Jun; 23(6). Hisama FM, Kubisch C, Martin GM, Oshima J. PMID: 25182132; PMCID: PMC4795068.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    59. Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Contemp Clin Trials. 2014 Sep; 39(1):1-8. Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, Burke W, Patrick DL, Jarvik GP, Veenstra DL. PMID: 24997220; PMCID: PMC4175052.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    60. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct; 164A(10):2510-3. Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. PMID: 24989684; PMCID: PMC4167236.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    61. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. PMID: 24811917; PMCID: PMC4487364.
      View in: PubMed   Mentions: 81     Fields:    Translation:Humans
    62. An encouraging progress report on the treatment of progeria and its implications for atherogenesis. Circulation. 2014 Jul 01; 130(1):4-6. Oshima J, Hisama FM, Martin GM. PMID: 24795391; PMCID: PMC4322865.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    63. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. Ann Neurol. 2014 Apr; 75(4):542-9. Chen YZ, Friedman JR, Chen DH, Chan GC, Bloss CS, Hisama FM, Topol SE, Carson AR, Pham PH, Bonkowski ES, Scott ER, Lee JK, Zhang G, Oliveira G, Xu J, Scott-Van Zeeland AA, Chen Q, Levy S, Topol EJ, Storm D, Swanson PD, Bird TD, Schork NJ, Raskind WH, Torkamani A. PMID: 24700542; PMCID: PMC4457323.
      View in: PubMed   Mentions: 60     Fields:    Translation:HumansCells
    64. Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome. Gerontology. 2014; 60(3):239-46. Oshima J, Hisama FM. PMID: 24401204; PMCID: PMC3997596.
      View in: PubMed   Mentions: 15     Fields:    Translation:Humans
    65. 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. Berg JS, Amendola LM, Eng C, Van Allen E, 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, Members of the CSER Actionability and Return of Results Working Group. PMID: 24195999; PMCID: PMC3935342.
      View in: PubMed   Mentions: 81     Fields:    Translation:Humans
    66. Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 Oct 03; 93(4):631-40. 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, National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP. PMID: 24055113; PMCID: PMC3791261.
      View in: PubMed   Mentions: 225     Fields:    Translation:Humans
    67. Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders. Genet Med. 2014 Jan; 16(1):70-7. Stobbe G, Liu Y, Wu R, Hudgings LH, Thompson O, Hisama FM. PMID: 23765050.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    68. 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. Bennette CS, Trinidad SB, Fullerton SM, Patrick D, Amendola L, Burke W, Hisama FM, Jarvik GP, Regier DA, Veenstra DL. PMID: 23722871; PMCID: PMC3823641.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    69. Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry. Mol Genet Genomic Med. 2013 May 01; 1(1):7-14. Saha B, Lessel D, Nampoothiri S, Rao AS, Hisama FM, Peter D, Bennett C, Nürnberg G, Nürnberg P, Martin GM, Kubisch C, Oshima J. PMID: 23936869; PMCID: PMC3736606.
      View in: PubMed   Mentions: 12     Fields:    
    70. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. 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. PMID: 23352163; PMCID: PMC3694430.
      View in: PubMed   Mentions: 232     Fields:    Translation:HumansAnimalsCells
    71. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203. Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA. PMID: 23266945; PMCID: PMC3876412.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    72. Clinical utility gene card for: Werner syndrome. Eur J Hum Genet. 2012 May; 20(5). Hisama FM, Kubisch C, Martin GM, Oshima J. PMID: 22258520; PMCID: PMC3330230.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    73. 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. Hisama FM, Lessel D, Leistritz D, Friedrich K, McBride KL, Pastore MT, Gottesman GS, Saha B, Martin GM, Kubisch C, Oshima J. PMID: 22065502; PMCID: PMC4679285.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    74. Myhre syndrome with ataxia and cerebellar atrophy. Clin Dysmorphol. 2011 Jul; 20(3):156-159. Bachmann-Gagescu R, Hisama FM, Yuen AL. PMID: 21490502.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    75. A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. Mol Syndromol. 2010 Sep; 1(3):127-132. Saha B, Lessel D, Hisama FM, Leistritz DF, Friedrich K, Martin GM, Kubisch C, Oshima J. PMID: 21031082; PMCID: PMC2957848.
      View in: PubMed   Mentions: 11  
    76. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. 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, Children's Hospital Boston Genotype Phenotype Study Group. PMID: 20468056; PMCID: PMC3001124.
      View in: PubMed   Mentions: 154     Fields:    Translation:Humans
    77. WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. Hum Genet. 2010 Jul; 128(1):103-11. 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. PMID: 20443122; PMCID: PMC4686336.
      View in: PubMed   Mentions: 55     Fields:    Translation:Humans
    78. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. 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, Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. PMID: 20231187; PMCID: PMC4247857.
      View in: PubMed   Mentions: 151     Fields:    Translation:Humans
    79. 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. Yu DC, Pathak B, Vargas SO, Javid PJ, Hisama FM, Wilson JM, Linden BC. PMID: 19995209.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    80. LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology. Mol Cell Neurosci. 2009 Dec; 42(4):448-57. Owuor K, Harel NY, Englot DJ, Hisama F, Blumenfeld H, Strittmatter SM. PMID: 19796686; PMCID: PMC2783222.
      View in: PubMed   Mentions: 48     Fields:    Translation:HumansAnimalsCells
    81. Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis. J Neurol Sci. 2009 Oct 15; 285(1-2):235-7. Dohle CI, Bannykh SI, Hisama FM, Baehring JM. PMID: 19592040.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    82. 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. Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. PMID: 19151366.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    83. Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth. J Neurosci. 2008 Dec 03; 28(49):13161-72. 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. PMID: 19052207; PMCID: PMC2892845.
      View in: PubMed   Mentions: 55     Fields:    Translation:HumansAnimalsCells
    84. 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. Veneziano L, Guida S, Mantuano E, Bernard P, Tarantino P, Boccone L, Hisama FM, Carrera P, Jodice C, Frontali M. PMID: 18976783.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    85. Synergistic interaction of the OCA2 and OCA3 genes in a family. Am J Med Genet A. 2008 Sep 15; 146A(18):2427-30. Chiang PW, Fulton AB, Spector E, Hisama FM. PMID: 18680187.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    86. 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 01; 146A(13):1637-54. 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. PMID: 18536050; PMCID: PMC2801020.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    87. No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios. Schizophr Res. 2008 Feb; 99(1-3):365-6. Budel S, Shim SO, Feng Z, Zhao H, Hisama F, Strittmatter SM. PMID: 18096369; PMCID: PMC2276648.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    88. A case of inherited erythromelalgia. Nat Clin Pract Neurol. 2007 Apr; 3(4):229-34. Novella SP, Hisama FM, Dib-Hajj SD, Waxman SG. PMID: 17410110.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    89. 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. Harty TP, Dib-Hajj SD, Tyrrell L, Blackman R, Hisama FM, Rose JB, Waxman SG. PMID: 17135418; PMCID: PMC6674913.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansAnimalsCells
    90. Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr; 8(2):131-5. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. PMID: 17136396; PMCID: PMC1820748.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    91. WRN's tenth anniversary. Sci Aging Knowledge Environ. 2006 Jun 28; 2006(10):pe18. Hisama FM, Bohr VA, Oshima J. PMID: 16807482.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    92. FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am J Med Genet A. 2005 Jul 01; 136(1):87-9. Seixas AI, Maurer MH, Lin M, Callahan C, Ahuja A, Matsuura T, Ross CA, Hisama FM, Silveira I, Margolis RL. PMID: 15889413.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCells
    93. Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons. Brain. 2005 Aug; 128(Pt 8):1847-54. Dib-Hajj SD, Rush AM, Cummins TR, Hisama FM, Novella S, Tyrrell L, Marshall L, Waxman SG. PMID: 15958509.
      View in: PubMed   Mentions: 187     Fields:    Translation:HumansCells
    94. Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Am J Med Genet A. 2005 Jun 01; 135(2):217-9. Hisama FM, Mancuso M, Filosto M, DiMauro S. PMID: 15800909.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    95. 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. Drazinic CM, Ercan-Sencicek AG, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. PMID: 15754353.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    96. Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family. Arch Neurol. 2005 Jan; 62(1):135-8. Hisama FM. PMID: 15642860.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    97. Going deep to cut the link: cortical disconnection syndrome caused by a thalamic lesion. Neurology. 2003 Jun 10; 60(11):1865-6. Weisman D, Hisama FM, Waxman SG, Blumenfeld H. PMID: 12796557.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    98. Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology. 2003 May 27; 60(10):1687-90. Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM. PMID: 12771268.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansCells
    99. 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. Hisama FM, Lee HH, Vashlishan A, Tekumalla P, Russell DS, Auld E, Goldstein JM. PMID: 11709000.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    100. GABA and the ornithine delta-aminotransferase gene in vigabatrin-associated visual field defects. Seizure. 2001 Oct; 10(7):505-7. Hisama FM, Mattson RH, Lee HH, Felice K, Petroff OA. PMID: 11749107.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    101. Human GABA(B) receptor 1 gene: eight novel sequence variants. Hum Mutat. 2001 Apr; 17(4):349-50. Hisama FM, Gruen JR, Choi J, Huseinovic M, Grigorenko EL, Pauls D, Mattson RH, Gelernter J, Wood FB, Goei VL. PMID: 11295833.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    102. 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. Am J Med Genet. 2001 Jan 15; 98(2):121-4. Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. PMID: 11223846.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    103. WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts. Cancer Res. 2000 May 01; 60(9):2372-6. Hisama FM, Chen YH, Meyn MS, Oshima J, Weissman SM. PMID: 10811112.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansAnimalsCells
    104. Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: a new, lethal syndrome. Am J Med Genet. 1998 Dec 04; 80(4):335-42. Hisama FM, Reyes-Mugica M, Wargowski DS, Thompson KJ, Mahoney MJ. PMID: 9856560.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    105. Comparison of methods for identifying transcription units and transcription map of the Werner syndrome gene region. Genomics. 1998 Sep 15; 52(3):352-7. Hisama FM, Oshima J, Yu CE, Fu YH, Mulligan J, Weissman SM, Schellenberg GD. PMID: 9790753.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    106. An expression map from human chromosome 14q24.3. Genomics. 1998 Jan 15; 47(2):314-8. Sharma V, Poorkaj P, Hisama F, Bonnycastle L, Yu CE, Massa H, Trask B, Clancy KP, Patterson D, Weissman SM, Schellenberg GD. PMID: 9479506.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    107. A YAC, P1, and cosmid contig and 17 new polymorphic markers for the Werner syndrome region at 8p12-p21. Genomics. 1996 Aug 01; 35(3):431-40. Yu CE, Oshima J, Hisama FM, Matthews S, Trask BJ, Schellenberg GD. PMID: 8812476.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    108. Positional cloning of the Werner's syndrome gene. Science. 1996 Apr 12; 272(5259):258-62. 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. PMID: 8602509.
      View in: PubMed   Mentions: 544     Fields:    Translation:HumansCells
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