Is it in your genes? The influence of genes on common disorders and diseases that affect you and your family

Por Hisama, Fuki M.
Publicado em 2004

Search and Insights into Novel Genetic Alterations Leading to Classical and Atypical Werner Syndrome

Por Oshima, Junko, Hisama, Fuki M.
Publicado em 2014

An Encouraging Progress Report on the Treatment of Progeria and Its Implications for Atherogenesis

Por Oshima, Junko, Hisama, Fuki M., Martin, George M.
Publicado no Circulation (2014)

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

Por Hisama, Fuki M., Oshima, Junko, Martin, George M.
Publicado no Cold Spring Harb Perspect Med (2016)

Clinical utility gene card for: Werner syndrome

Por Hisama, Fuki M, Kubisch, Christian, Martin, George M, Oshima, Junko
Publicado em 2012

Clinical utility gene card for: Werner Syndrome - Update 2014

Por Hisama, Fuki M, Kubisch, Christian, Martin, George M, Oshima, Junko
Publicado no Eur J Hum Genet (2015)

High Incidence of BSCL2 Intragenic Recombinational Mutation in Peruvian Type 2 Berardinelli–Seip Syndrome

Por Purizaca-Rosillo, Nelson, Mori, Takayasu, Benites-Cóndor, Yamali, Hisama, Fuki M., Martin, George M., Oshima, Junko
Publicado no Am J Med Genet A (2016)

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

Por Chen, Haijun, von Hehn, Christian, Kaczmarek, Leonard K., Ment, Laura R., Pober, Barbara R., Hisama, Fuki M.
Publicado em 2006

Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations

Por Kandhaya-Pillai, Renuka, Hisama, Fuki M., Bucks, Stephanie A., Yarzar, Soe, Korovou, Haroula, Martin, George M., Oshima, Junko
Publicado no Aging Pathobiol Ther (2020)

Na(v)1.7 Mutant A863P in Erythromelalgia: Effects of Altered Activation and Steady-State Inactivation on Excitability of Nociceptive Dorsal Root Ganglion Neurons

Por Harty, T. Patrick, Dib-Hajj, Sulayman D., Tyrrell, Lynda, Blackman, Rachael, Hisama, Fuki M., Rose, John B., Waxman, Stephen G.
Publicado no J Neurosci (2006)

Schizencephaly: Association With Young Maternal Age, Alcohol Use, and Lack of Prenatal Care

Por Dies, Kira A., Bodell, Adria, Hisama, Fuki M., Guo, Chao-Yu, Barry, Brenda, Chang, Bernard S., Barkovich, A. James, Walsh, Christopher A.
Publicado em 2012

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures

Por Sargolzaeiaval, Forough, Zhang, Jiaming, Schleit, Jennifer, Lessel, Davor, Kubisch, Christian, Precioso, Debora R., Sillence, David, Hisama, Fuki M., Dorschner, Michael, Martin, George M., Oshima, Junko
Publicado no Mol Genet Genomic Med (2018)

Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

Por Saha, Bidisha, Lessel, Davor, Nampoothiri, Sheela, Rao, Anuradha S, Hisama, Fuki M, Peter, Dincy, Bennett, Chris, Nürnberg, Gudrun, Nürnberg, Peter, Martin, George M, Kubisch, Christian, Oshima, Junko
Publicado em 2013

Coronary Artery Disease in a Werner Syndrome-Like Form of Progeria Characterized by Low Levels of Progerin, a Splice Variant of Lamin A

Por Hisama, Fuki M., Lessel, Davor, Leistritz, Dru, Friedrich, Katrin, McBride, Kim L., Pastore, Matthew T., Gottesman, Gary S., Saha, Bidisha, Martin, George M., Kubisch, Christian, Oshima, Junko
Publicado no Am J Med Genet A (2011)

Electronic health records contain dispersed risk factor information that could be used to prevent breast and ovarian cancer

Por Payne, Thomas H, Zhao, Lue Ping, Le, Calvin, Wilcox, Peter, Yi, Troy, Hinshaw, Jesse, Hussey, Duncan, Kostrinsky-Thomas, Alex, Hale, Malika, Brimm, John, Hisama, Fuki M
Publicado no J Am Med Inform Assoc (2020)

Return of Incidental Findings in Genomic Medicine: Measuring What Patients Value: Development of an Instrument to Measure PReferences for Information from Next-generation Testing (...

Por Bennette, Caroline Savage, Trinidad, Susan Brown, Fullerton, Stephanie M., Patrick, Donald, Amendola, Laura, Burke, Wylie, Hisama, Fuki M., Jarvik, Gail P., Regier, Dean A., Veenstra, David L.
Publicado em 2013

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Por Gelman, Hannah, Dines, Jennifer N., Berg, Jonathan, Berger, Alice H., Brnich, Sarah, Hisama, Fuki M., James, Richard G., Rubin, Alan F., Shendure, Jay, Shirts, Brian, Fowler, Douglas M., Starita, Lea M.
Publicado no Genome Med (2019)

Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness Analysis

Por Gallego, Carlos J., Shirts, Brian H., Bennette, Caroline S., Guzauskas, Greg, Amendola, Laura M., Horike-Pyne, Martha, Hisama, Fuki M., Pritchard, Colin C., Grady, William M., Burke, Wylie, Jarvik, Gail P., Veenstra, David L.
Publicado no J Clin Oncol (2015)

Is Incidental Finding the Best Term? A Study of Patients’ Preferences

Por Tan, Nina, Amendola, Laura M, O’Daniel, Julianne M., Burt, Amber, Horike-Pyne, Martha J., Boshe, Lacey, Henderson, Gail E., Rini, Christine, Roche M.S., Myra I., Hisama, Fuki M., Burke, Wylie, Wilfond, Benjamin, Jarvik, Gail P.
Publicado no Genet Med (2016)

ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes

Por Mori, Takayasu, Yousefzadeh, Matthew J., Faridounnia, Maryam, Chong, Jessica X., Hisama, Fuki M., Hudgins, Louanne, Mercado, Gabriela, Wade, Erin A, Barghouthy, Amira S., Lee, Lin, Martin, George M., Nickerson, Deborah A., Bamshad, Michael J., Niedernhofer, Laura J., Oshima, Junko
Publicado no Hum Mutat (2017)