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Author Details

Fuki M Hisama
University of Washington
1996
101
31
PMIDPaper TitleJournal TitlePublished Year
37603195Caspase 5 depletion is linked to hyper-inflammatory response and progeroid syndrome.Geroscience2024
36798371Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.bioRxiv2023
37808736Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.bioRxiv2023
37560121Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.Neurol Genet2023
37558662Familial co-segregation and the emerging role of long-read sequencing to re-classify variants of uncertain significance in inherited retinal diseases.NPJ Genom Med2023
37194416Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.Ann Clin Transl Neurol2023
35307606The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.Ophthalmol Retina2022
35534204Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.J Med Genet2022
35848209Adults with lysosomal storage diseases in the undiagnosed diseases network.Mol Genet Genomic Med2022
33295962Review 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 Sci2021
33881185Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome.J Genet Couns2021
33763846Searching the PDF Haystack: Automated Knowledge Discovery in Scanned EHR Documents.Appl Clin Inform2021
34211152Exome 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 Med2021
33428109SMAD4 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.Geroscience2021
33136657Delayed diagnosis of Williams-Beuren syndrome in an adolescent of Jamaican descent: examining racial disparities in genetics education.Clin Dysmorphol2021
32493978Human BDNF/TrkB variants impair hippocampal synaptogenesis and associate with neurobehavioural abnormalities.Sci Rep2020
33193636Deletion of <i>FUNDC2</i> and <i>CMC4</i> on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men.Front Genet2020
32940694Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer.J Am Med Inform Assoc2020
32954377Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations.Aging Pathobiol Ther2020
33010189Diversity, inclusion and equity in medical genetics: The time is now.Am J Med Genet A2020
32341133Cardiogenetics: a primer for the clinical cardiologist.Heart2020
30327540Trends over 42 years in the Adult Medical Genetics Clinic at the University of Washington.Genet Med2019
31862013Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation.Genome Med2019
29904164First, do no harm: direct-to-consumer genetic testing.Genet Med2019
31400517Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.Contemp Clin Trials2019
31397905CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.Muscle Nerve2019
30614194Cornelia de Lange syndrome in diverse populations.Am J Med Genet A2019
29246420LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.Am J Kidney Dis2018
29981911Giant Pediatric Rhabdoid Meningioma Associated with a Germline BAP1 Pathogenic Variation: A Rare Clinical Case.World Neurosurg2018
30267214Rare loss of function variants in candidate genes and risk of colorectal cancer.Hum Genet2018
30393977CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.Mol Genet Genomic Med2018
29710145Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome.JAMA2018
29105242ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.Hum Mutat2018
27490114Is "incidental finding" the best term?: a study of patients' preferences.Genet Med2017
28777376CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Genet Med2017
28846075Dysfunction of the MDM2/p53 axis is linked to premature aging.J Clin Invest2017
27667302WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.Hum Mutat2017
27868354High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.Am J Med Genet A2017
26845104Improving performance of multigene panels for genomic analysis of cancer predisposition.Genet Med2016
26480326Initiation of universal tumor screening for Lynch syndrome in colorectal cancer patients as a model for the implementation of genetic information into clinical oncology practice.Cancer2016
26637299Next 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 Couns2016
27819239Biochemical and imaging surveillance in Li-Fraumeni syndrome.Lancet Oncol2016
27171546Recommendations for the integration of genomics into clinical practice.Genet Med2016
26986877The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Genet Med2016
26931459How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative.Cold Spring Harb Perspect Med2016
25182132Clinical utility gene card for: Werner Syndrome--Update 2014.Eur J Hum Genet2015
26537056ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.Neurology2015
26172944POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.Hum Mutat2015
25940718Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis.J Clin Oncol2015
25637381Actionable exomic incidental findings in 6503 participants: challenges of variant classification.Genome Res2015
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Collaborators

Gail P Jarvik
University of Washington Medical Center
Co-authored papers 16
Laura M Amendola
Illumina Inc.
Co-authored papers 11
Robin L Bennett
University of Washington
Co-authored papers 10
Wylie Burke
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Co-authored papers 9
Martha Horike-Pyne
University of Washington School of Medicine
Co-authored papers 9
Elisabeth A Rosenthal
University of Washington Medical Center
Co-authored papers 8
Wendy H Raskind
University of Washington School of Medicine
Co-authored papers 8
Michael O Dorschner
University of Washington
Co-authored papers 8
Brian H Shirts
Institute for Public Health Genetics, University of Washington
Co-authored papers 8
Michael J Bamshad
University of Washington
Co-authored papers 7
Kathleen A Leppig
Kaiser Permanente Washington
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William M Grady
. Fred Hutchinson Cancer Center
Co-authored papers 6
Carlos J Gallego
University of Washington
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Colin C Pritchard
University of Washington, USA Brotman Baty Institute for Precision Medicine
Co-authored papers 6
Deborah A Nickerson
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Christopher A Walsh
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David L Veenstra
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Seattle Children's Hospital.
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Andrew B Stergachis
University of Washington School of Medicine
Co-authored papers 4
Stephanie M Fullerton
University of Washington School of Medicine
Co-authored papers 4
Chang-En Yu
and Clinical Center
Co-authored papers 4
David T Miller
Boston Children's Hospital
Co-authored papers 4
Thomas D Bird
University of Washington School of Medicine
Co-authored papers 4
Gerard D Schellenberg
Co-authored papers 4
Susan Brown Trinidad
University of Washington
Co-authored papers 3
Leonard Rappaport
Boston Children's Hospital
Co-authored papers 3
Tom Walsh
University of Washington
Co-authored papers 3
Jonathan S Berg
University of North Carolina
Co-authored papers 3
Amy E Roberts
Boston Children's Hospital, Harvard Medical School
Co-authored papers 3
Sherman M Weissman
Co-authored papers 3
Release 1.2