Hisama, Fuki M.: search on Z-Library

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1

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

Schleit, Jennifer, Naylor, Lorraine V., Hisama, Fuki M.

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 175 KB

english, 2018

2

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia

Chen, Ying-Zhang, Friedman, Jennifer R., Chen, Dong-Hui, Chan, Guy C.-K., Bloss, Cinnamon S., Hisama, Fuki M., Topol, Sarah E., Carson, Andrew R., Pham, Phillip H., Bonkowski, Emily S., Scott, Erick R

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 224 KB

english, 2014

3

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

Liana Veneziano, Serena Guida, Elide Mantuano, Paola Bernard, Patrizia Tarantino, Loredana Boccone, Fuki M. Hisama, Paola Carrera, Carla Jodice, Marina Frontali

Journal:

Journal of the Neurological Sciences

Year:

2009

Language:

english

File:

PDF, 554 KB

english, 2009

4

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

Cohen, Stacey A., Laurino, Mercy, Bowen, Deborah J., Upton, Melissa P., Pritchard, Colin, Hisama, Fuki, Jarvik, Gail, Fichera, Alessandro, Sjoding, Britta, Bennett, Robin L., Naylor, Lorraine, Jacobso

Journal:

Year:

2016

Language:

english

File:

PDF, 312 KB

english, 2016

5

Atypical Aicardi-Goutieres syndrome: Is the WRN locus a modifier?

Lessel, Davor, Saha, Bidisha, Hisama, Fuki, Kaymakamzade, Bahar, Nurlu, Gulay, Gursoy-Özdemir, Yasemin, Thiele, Holger, Nürnberg, Peter, Martin, George M., Kubisch, Christian, Oshima, Junko

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 492 KB

english, 2014

6

Synergistic interaction of the OCA2 and OCA3 genes in a family

Pei-Wen Chiang, Anne B. Fulton, Elaine Spector, Fuki M. Hisama

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

7

A YAC, P1, and Cosmid Contig and 17 New Polymorphic Markers for the Werner Syndrome Region at 8p12–p21

Chang-En Yu, Junko Oshima, Fuki M. Hisama, Shellie Matthews, Barbara J. Trask, Gerard D. Schellenberg

Journal:

Year:

1996

Language:

english

File:

PDF, 173 KB

english, 1996

8

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

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, Ju

Journal:

Molecular Genetics & Genomic Medicine

Year:

2013

Language:

english

File:

PDF, 458 KB

english, 2013

9

Progress in Molecular Genetics of Alzheimer's Disease

Hisama, Fuki M., Schellenberg, Gerard D.

Journal:

Neuroscientist The

Year:

1996

Language:

english

File:

PDF, 391 KB

english, 1996

10

FXTAS, SCA10, and SCA17 in American patients with movement disorders

Ana I. Seixas, Martin H. Maurer, Mark Lin, Colleen Callahan, Alka Ahuja, Tohru Matsuura, Christopher A. Ross, Fuki M. Hisama, Isabel Silveira, Russell L. Margolis

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 49 KB

english, 2005

11

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield

Geng, Juan, Picker, Jonathan, Zheng, Zhaojing, Zhang, Xiaoqing, Wang, Jian, Hisama, Fuki, Brown, David W, Mullen, Mary P, Harris, David, Stoler, Joan, Seman, Ann, Miller, David T, Fu, Qihua, Roberts,

Journal:

Year:

2014

Language:

english

File:

PDF, 861 KB

english, 2014

12

Is “incidental finding” the best term?: a study of patients’ preferences

Tan, Nina, Amendola, Laura M., O’Daniel, Julianne M., Burt, Amber, Horike-Pyne, Martha J., Boshe, Lacey, Henderson, Gail E., Rini, Christine, Roche, Myra I., Hisama, Fuki M., Burke, Wylie, Wilfond, Be

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 570 KB

english, 2016

13

Clinical utility gene card for: Werner syndrome

Hisama, Fuki M, Kubisch, Christian, Martin, George M, Oshima, Junko

Journal:

European Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 156 KB

english, 2012

14

Genetic Medicine

HISAMA, FUKI M.

Journal:

Neurology Today

Year:

2008

Language:

english

File:

PDF, 2.48 MB

english, 2008

15

GABA and the ornithineδ-aminotransferase gene in vigabatrin-associated visual field defects

Fuki M Hisama, Richard H Mattson, Helen H Lee, Kristin Felice, Ognen A.C Petroff

Journal:

Year:

2001

Language:

english

File:

PDF, 44 KB

english, 2001

16

Improving performance of multigene panels for genomic analysis of cancer predisposition

Shirts, Brian H., Casadei, Silvia, Jacobson, Angela L., Lee, Ming K., Gulsuner, Suleyman, Bennett, Robin L., Miller, Margaret, Hall, Sarah A., Hampel, Heather, Hisama, Fuki M., Naylor, Lorraine V., Go

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 506 KB

english, 2016

17

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters

Fuki M. Hisama, Sharon Zemel, Elizabeth M. Cherniske, Georgirene D. Vladutiu, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 80 KB

english, 2001

18

Rapid array-based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)

Carolyn M. Drazinic, Adife G. Ercan-Sencicek, Laura M. Gault, Fuki M. Hisama, Mazin B. Qumsiyeh, Norma J. Nowak, Joseph F. Cubells, Matthew W. State

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 257 KB

english, 2005

19

No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios

Stephane Budel, Sang-ohk Shim, Zeny Feng, Hongyu Zhao, Fuki Hisama, Stephen M. Strittmatter

Journal:

Schizophrenia Research

Year:

2008

Language:

english

File:

PDF, 300 KB

english, 2008

20

POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome

Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Hen

Journal:

Year:

2015

Language:

english

File:

PDF, 765 KB

english, 2015

21

Human GABAB receptor 1 gene: Eight novel sequence variants

Fuki M. Hisama, Jeffrey R. Gruen, Jenny Choi, Masha Huseinovic, Elena L. Grigorenko, David Pauls, Richard H. Mattson, Joel Gelernter, Frank B. Wood, Vita L. Goei

Journal:

Year:

2001

Language:

english

File:

PDF, 29 KB

english, 2001

22

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

Oshima, Junko, Hisama, Fuki M.

Journal:

Year:

2014

Language:

english

File:

PDF, 847 KB

english, 2014

23

Congenital Intra-abdominal Bilateral Juvenile Granulosa Cell Tumors of the Testis Associated with Constitutional Loss of Material from Chromosome 4

Yu, David C., Pathak, Bhavana, Vargas, Sara O., Javid, Patrick J., Hisama, Fuki M., Wilson, Jay M., Linden, Bradley C.

Journal:

Pediatric and Developmental Pathology

Year:

2011

Language:

english

File:

PDF, 1.14 MB

english, 2011

24

Copy number variation plays an important role in clinical epilepsy

Olson, Heather, Shen, Yiping, Avallone, Jennifer, Sheidley, Beth R., Pinsky, Rebecca, Bergin, Ann M., Berry, Gerard T., Duffy, Frank H., Eksioglu, Yaman, Harris, David J., Hisama, Fuki M., Ho, Eugenia

Journal:

Annals of Neurology

Year:

2014

Language:

english

File:

PDF, 1018 KB

english, 2014

25

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

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

Journal:

Year:

2007

Language:

english

File:

PDF, 201 KB

english, 2007

26

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

Berg, Jonathan S., Amendola, Laura M., Eng, Christine, Allen, Eliezer Van, Gray, Stacy W., Wagle, Nikhil, Rehm, Heidi L., DeChene, Elizabeth T., Dulik, Matthew C., Hisama, Fuki M., Burke, Wylie, Spinn

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 252 KB

english, 2013

27

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)

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.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 591 KB

english, 2013

28

Familial Periodic Paralysis and Charcot-Marie-Tooth Disease in a 7-Generation Family

Hisama, Fuki M.

Journal:

Archives of Neurology

Year:

2005

Language:

english

File:

PDF, 133 KB

english, 2005

29

Precision Medicine and Progress in the Treatment of Hutchinson-Gilford Progeria Syndrome

Hisama, Fuki Marie, Oshima, Junko

Journal:

JAMA The Journal of the American Medical Association

Year:

2018

Language:

english

File:

PDF, 116 KB

english, 2018

30

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

Ravanpay, Ali C., Barkley, Ariana, White-Dzuro, Gabrielle A., Cimino, Patrick J., Gonzalez-Cuyar, Luis F., Lockwood, Christina, Halasz, Lia M., Hisama, Fuki M., Ferreira, Manuel

Journal:

World Neurosurgery

Year:

2018

Language:

english

File:

PDF, 4.53 MB

english, 2018

31

Progressive external ophthalmoplegia: A new family with tremor and peripheral neuropathy

Fuki M. Hisama, Michelangelo Mancuso, Massimiliano Filosto, Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 99 KB

english, 2005

32

LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology

Katherine Owuor, Noam Y. Harel, Dario J. Englot, Fuki Hisama, Hal Blumenfeld, Stephen M. Strittmatter

Journal:

Molecular and Cellular Neuroscience

Year:

2009

Language:

english

File:

PDF, 1.99 MB

english, 2009

33

Comparative effectiveness of next generation genomic sequencing for disease diagnosis: Design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes

Gallego, Carlos J., Bennette, Caroline S., Heagerty, Patrick, Comstock, Bryan, Horike-Pyne, Martha, Hisama, Fuki, Amendola, Laura M., Bennett, Robin L., Dorschner, Michael O., Tarczy-Hornoch, Peter, G

Journal:

Contemporary Clinical Trials

Year:

2014

Language:

english

File:

PDF, 357 KB

english, 2014

34

Myhre syndrome with ataxia and cerebellar atrophy

Bachmann-Gagescu, Ruxandra, Hisama, Fukie Marie, Yuen, Amy Lawson

Journal:

Clinical Dysmorphology

Year:

2011

Language:

english

File:

PDF, 211 KB

english, 2011

35

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes

Andeen, Nicole K., Schleit, Jennifer, Blosser, Christopher D., Dorschner, Michael O., Hisama, Fuki Marie, Smith, Kelly D.

Journal:

American Journal of Kidney Diseases

Year:

2017

Language:

english

File:

PDF, 2.19 MB

english, 2017

36

CNTNAP1 Mutations in an Adult with Charcot Marie Tooth Disease

Freed, Amanda S., Weiss, Michael D., Malouf, Emily A., Hisama, Fuki M.

Journal:

Year:

2019

Language:

english

File:

PDF, 1.38 MB

english, 2019

37

Renal tubular dysgenesis, absent nipples, and multiple malformations in three brothers: A new, lethal syndrome

Hisama, Fuki M., Reyes-Mugica, Miguel, Wargowski, David S., Thompson, Kate J., Mahoney, Maurice J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 491 KB

english, 1998

38

WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects

Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris,

Journal:

Year:

2016

Language:

english

File:

PDF, 1.03 MB

english, 2016

39

Comparison of Methods for Identifying Transcription Units and Transcription Map of the Werner Syndrome Gene Region

Fuki M. Hisama, Junko Oshima, Chang-En Yu, Ying-Hui Fu, John Mulligan, Sherman M. Weissman, Gerard D. Schellenberg

Journal:

Year:

1998

Language:

english

File:

PDF, 1.77 MB

english, 1998

40

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

Purizaca-Rosillo, Nelson, Mori, Takayasu, Benites-Cóndor, Yamali, Hisama, Fuki M., Martin, George M., Oshima, Junko

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 786 KB

english, 2016

41

Rare loss of function variants in candidate genes and risk of colorectal cancer

Rosenthal, Elisabeth A., Shirts, Brian H., Amendola, Laura M., Horike-Pyne, Martha, Robertson, Peggy D., Hisama, Fuki M., Bennett, Robin L., Dorschner, Michael O., Nickerson, Deborah A., Stanaway, Ian

Journal:

Year:

2018

Language:

english

File:

PDF, 877 KB

english, 2018

42

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

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

Journal:

Genome Medicine

Year:

2019

Language:

english

File:

PDF, 791 KB

english, 2019

43

Deletion of FUNDC2 and CMC4 on Chromosome Xq28 Is Sufficient to Cause Hypergonadotropic Hypogonadism in Men

Deng, Xinxian, Fang, He, Pathak, Asha, Zou, Angela M., Neufeld-Kaiser, Whitney, Malouf, Emily A., Failor, Richard A., Hisama, Fuki M., Liu, Yajuan J.

Journal:

Frontiers in Genetics

Year:

2020

File:

PDF, 2.37 MB

2020

44

A case of inherited erythromelalgia

Novella, Steven P, Hisama, Fuki M, Dib-Hajj, Sulayman D, Waxman, Stephen G

Journal:

Nature Clinical Practice Neurology

Year:

2007

Language:

english

File:

PDF, 318 KB

english, 2007

45

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

Gay, Elizabeth A., Byers, Peter H., Bennett, Robin L., Bird, Thomas D., Hisama, Fuki M.

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 499 KB

english, 2018

46

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

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

Journal:

Journal of the American Medical Informatics Association

Year:

2020

File:

PDF, 905 KB

2020

47

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

Stobbe, Gary, Liu, Yajuan, Wu, Rebecca, Hudgings, Laura Heath, Thompson, Owen, Hisama, Fuki M.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 593 KB

english, 2014

48

Cardiogenetics: a primer for the clinical cardiologist

Otto, Catherine M, Savla, Jainy J., Hisama, Fuki M

Journal:

Year:

2020

File:

PDF, 2.18 MB

2020

49

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

Hisama, Fuki M., Oshima, Junko, Martin, George M.

Journal:

Cold Spring Harbor Perspectives in Medicine

Year:

2016

Language:

english

File:

PDF, 1.16 MB

english, 2016

50

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

Niu, Xin, Amendola, Laura M., Hart, Ragan, Bennette, Caroline S., Heagerty, Patrick, Horike-Pyne, Martha, Trinidad, Susan B., Rosenthal, Elisabeth A., Comstock, Bryan, Nefcy, Chris, Hisama, Fuki M., B

Journal:

Contemporary Clinical Trials

Year:

2019

Language:

english

File:

PDF, 1.57 MB

english, 2019

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