Fuki M Hisama

Fuki M Hisama

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Fuki M Hisama

Fuki M Hisama

Publications by authors named "Fuki M Hisama"

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53Publications

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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.

Muscle Nerve 2019 Nov 27;60(5):E28-E30. Epub 2019 Aug 27.

Professor of Medical Genetics and Adjunct Professor of Neurology, Washington School of Medicine, University of Washington School of Medicine, Seattle, Washington.

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http://dx.doi.org/10.1002/mus.26658DOI Listing
November 2019

Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.

Genet Med 2019 06 16;21(6):1457-1461. Epub 2018 Oct 16.

Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.

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http://www.nature.com/articles/s41436-018-0329-5
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http://dx.doi.org/10.1038/s41436-018-0329-5DOI Listing
June 2019

First, do no harm: direct-to-consumer genetic testing.

Genet Med 2019 02 14;21(2):510-511. Epub 2018 Jun 14.

Department of Medicine Division of Medical Genetics (F.M.H), University of Washington, Seattle, Washington, USA.

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http://www.nature.com/articles/s41436-018-0071-z
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http://dx.doi.org/10.1038/s41436-018-0071-zDOI Listing
February 2019

Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case.

World Neurosurg 2018 Nov 6;119:402-415. Epub 2018 Jul 6.

Department of Neurological Surgery, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1016/j.wneu.2018.06.227DOI Listing
November 2018

Is "incidental finding" the best term?: a study of patients' preferences.

Genet Med 2017 02 4;19(2):176-181. Epub 2016 Aug 4.

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2016.96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291803PMC
February 2017

High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.

Am J Med Genet A 2017 Feb 21;173(2):471-478. Epub 2016 Nov 21.

Department of Pathology, University of Washington, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.38053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5247312PMC
February 2017

Biochemical and imaging surveillance in Li-Fraumeni syndrome.

Lancet Oncol 2016 11;17(11):e472

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/S1470-2045(16)30530-7DOI Listing
November 2016

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 5;25(3):515-9. Epub 2015 Dec 5.

Department of Medicine, Division of Medical Genetics, University of Washington, 1705 NE Pacific Street, K228, UW Box 357720, Seattle, WA, 98195, USA.

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http://dx.doi.org/10.1007/s10897-015-9902-0DOI Listing
June 2016

How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative.

Cold Spring Harb Perspect Med 2016 Apr 1;6(4):a025882. Epub 2016 Apr 1.

Department of Pathology, University of Washington School of Medicine, Seattle, Washington 98195 International Registry of Werner Syndrome, University of Washington School of Medicine, Seattle, Washington 98195.

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http://dx.doi.org/10.1101/cshperspect.a025882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817739PMC
April 2016

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

Clinical utility gene card for: Werner Syndrome--Update 2014.

Eur J Hum Genet 2015 Jun 3;23(6). Epub 2014 Sep 3.

Department of Pathology, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795068PMC
June 2015

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Gerontology 2014 3;60(3):239-46. Epub 2014 Jan 3.

Department of Pathology, University of Washington, Seattle, Wash., USA.

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http://dx.doi.org/10.1159/000356030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3997596PMC
May 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

An encouraging progress report on the treatment of progeria and its implications for atherogenesis.

Circulation 2014 Jul 2;130(1):4-6. Epub 2014 May 2.

From the Department of Pathology (J.O., G.M.M.) and the Division of Medical Genetics (F.M.H.), University of Washington, Seattle, WA; and Molecular Biology Institute, University of California at Los Angeles, Los Angeles, CA (G.M.M.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.114.010648DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322865PMC
July 2014

Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.

Genet Med 2014 Jan 13;16(1):70-7. Epub 2013 Jun 13.

1] Department of Neurology, University of Washington, Seattle, Washington, USA [2] Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2013.78DOI Listing
January 2014

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 24;15(11):860-7. Epub 2013 Oct 24.

1] Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [2] Carolina Center for Genome Sciences, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [3] Center for Genomics and Society, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA [4] Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2013.133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935342PMC
November 2013

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Am J Hum Genet 2013 Oct 19;93(4):631-40. Epub 2013 Sep 19.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791261PMC
October 2013

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

J Child Neurol 2013 Feb 23;28(2):198-203. Epub 2012 Dec 23.

Department of Neurology, Boston Children's Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1177/0883073812467850DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876412PMC
February 2013

Clinical utility gene card for: Werner syndrome.

Eur J Hum Genet 2012 May 18;20(5). Epub 2012 Jan 18.

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1038/ejhg.2011.265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3330230PMC
May 2012

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. Epub 2009 Dec 8.

Department of Pediatric Surgery, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.2350/09-04-0638-CR.1DOI Listing
October 2011

Leukoencephalopathy in adults: is it adrenoleukodystrophy? A case report and molecular analysis.

J Neurol Sci 2009 Oct 9;285(1-2):235-7. Epub 2009 Jul 9.

Department of Neurology, Yale School of Medicine, P.O. Box 208018, New Haven, CT 06520-8018, USA.

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http://dx.doi.org/10.1016/j.jns.2009.06.012DOI Listing
October 2009

Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.

J Child Neurol 2009 May 16;24(5):618-24. Epub 2009 Jan 16.

Institute for Child Development and Pediatric Neurology Unit, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1177/0883073808327833DOI Listing
May 2009

Newly characterised 5' and 3' regions of CACNA1A gene harbour mutations associated with Familial Hemiplegic Migraine and Episodic Ataxia.

J Neurol Sci 2009 Jan 30;276(1-2):31-7. Epub 2008 Oct 30.

Istituto di Neurobiologia e Medicina Molecolare, CNR, Via Fosso del Cavaliere, Rome, Italy.

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http://dx.doi.org/10.1016/j.jns.2008.08.030DOI Listing
January 2009

Synergistic interaction of the OCA2 and OCA3 genes in a family.

Am J Med Genet A 2008 Sep;146A(18):2427-30

UCHSC DNA Diagnostic Laboratory, Department of Pediatrics, CU Denver School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.32453DOI Listing
September 2008

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

Neurogenetics 2007 Apr 29;8(2):131-5. Epub 2006 Nov 29.

Department of Pharmacology, Yale University School of Medicine, New Haven, CT, USA.

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http://link.springer.com/10.1007/s10048-006-0071-z
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http://dx.doi.org/10.1007/s10048-006-0071-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1820748PMC
April 2007

A case of inherited erythromelalgia.

Nat Clin Pract Neurol 2007 Apr;3(4):229-34

Department of Neurology, Yale University School of Medicine, New Haven, CT 06520-8018, USA.

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http://dx.doi.org/10.1038/ncpneuro0425DOI Listing
April 2007

WRN's tenth anniversary.

Sci Aging Knowledge Environ 2006 Jun 28;2006(10):pe18. Epub 2006 Jun 28.

Department of Neurology, Yale University, New Haven, CT 06520, USA.

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http://dx.doi.org/10.1126/sageke.2006.10.pe18DOI Listing
June 2006

Familial periodic paralysis and Charcot-Marie-Tooth disease in a 7-generation family.

Authors:
Fuki M Hisama

Arch Neurol 2005 Jan;62(1):135-8

Department of Neurology, Neurogenetics Program, Yale University School of Medicine, 333 Cedar Street, PO Box 208018, New Haven, CT 06520-8018, USA.

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http://dx.doi.org/10.1001/archneur.62.1.135DOI Listing
January 2005

Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features.

Neurology 2003 May;60(10):1687-90

Department of Neurology, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1212/01.wnl.0000063324.39980.4aDOI Listing
May 2003