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Fuki M. Hisama
Fuki M. Hisama
Professor of Medical Genetics, University of Washington
在 uw.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Positional cloning of the Werner's syndrome gene
CE Yu, J Oshima, YH Fu, EM Wijsman, F Hisama, R Alisch, S Matthews, ...
Science 272 (5259), 258-262, 1996
20621996
Gain-of-function mutation in Nav1.7 in familial erythromelalgia induces bursting of sensory neurons
SD Dib-Hajj, AM Rush, TR Cummins, FM Hisama, S Novella, L Tyrrell, ...
Brain 128 (8), 1847-1854, 2005
5192005
Using whole-exome sequencing to identify inherited causes of autism
WY Timothy, MH Chahrour, ME Coulter, S Jiralerspong, K Okamura-Ikeda, ...
Neuron 77 (2), 259-273, 2013
5152013
Clinical genetic testing for patients with autism spectrum disorders
Y Shen, KA Dies, IA Holm, C Bridgemohan, MM Sobeih, EB Caronna, ...
Pediatrics 125 (4), e727-e735, 2010
4332010
Actionable, pathogenic incidental findings in 1,000 participants’ exomes
MO Dorschner, LM Amendola, EH Turner, PD Robertson, BH Shirts, ...
The American Journal of Human Genetics 93 (4), 631-640, 2013
4192013
Actionable exomic incidental findings in 6503 participants: challenges of variant classification
LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ...
Genome research 25 (3), 305-315, 2015
3742015
Deletions of NRXN1 (neurexin‐1) predispose to a wide spectrum of developmental disorders
MSL Ching, Y Shen, WH Tan, SS Jeste, EM Morrow, X Chen, ...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153 …, 2010
3472010
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical …
K Manickam, MR McClain, LA Demmer, S Biswas, HM Kearney, ...
Genetics in Medicine 23 (11), 2029-2037, 2021
3332021
Copy number variation plays an important role in clinical epilepsy
H Olson, Y Shen, J Avallone, BR Sheidley, R Pinsky, AM Bergin, GT Berry, ...
Annals of neurology 75 (6), 943-958, 2014
2092014
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine
RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ...
The American Journal of Human Genetics 98 (6), 1051-1066, 2016
1702016
NaV1. 7 mutant A863P in erythromelalgia: effects of altered activation and steady-state inactivation on excitability of nociceptive dorsal root ganglion neurons
TP Harty, SD Dib-Hajj, L Tyrrell, R Blackman, FM Hisama, JB Rose, ...
Journal of Neuroscience 26 (48), 12566-12575, 2006
1622006
Recommendations for the integration of genomics into clinical practice
S Bowdin, A Gilbert, E Bedoukian, C Carew, MP Adam, J Belmont, ...
Genetics in Medicine 18 (11), 1075-1084, 2016
1532016
Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis
CJ Gallego, BH Shirts, CS Bennette, G Guzauskas, LM Amendola, ...
Journal of Clinical Oncology 33 (18), 2084-2091, 2015
1452015
Gain‐of‐function ADCY5 mutations in familial dyskinesia with facial myokymia
YZ Chen, JR Friedman, DH Chen, GCK Chan, CS Bloss, FM Hisama, ...
Annals of neurology 75 (4), 542-549, 2014
1432014
ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations
DH Chen, A Méneret, JR Friedman, O Korvatska, A Gad, ES Bonkowski, ...
Neurology 85 (23), 2026-2035, 2015
1242015
Genetic variants of Nogo-66 receptor with possible association to schizophrenia block myelin inhibition of axon growth
S Budel, T Padukkavidana, BP Liu, Z Feng, F Hu, S Johnson, J Lauren, ...
Journal of Neuroscience 28 (49), 13161-13172, 2008
1202008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36. 3, 2p16. 1–p23. 1, 4q21. 21–q22. 1, 6q26–q27, and 21q2
WB Dobyns, G Mirzaa, SL Christian, K Petras, J Roseberry, GD Clark, ...
American journal of medical genetics Part A 146 (13), 1637-1654, 2008
1202008
LGI1-associated epilepsy through altered ADAM23-dependent neuronal morphology
K Owuor, NY Harel, DJ Englot, F Hisama, H Blumenfeld, SM Strittmatter
Molecular and Cellular Neuroscience 42 (4), 448-457, 2009
1152009
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
K Yokote, S Chanprasert, L Lee, K Eirich, M Takemoto, A Watanabe, ...
Human mutation 38 (1), 7-15, 2017
1062017
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations
K Friedrich, L Lee, DF Leistritz, G Nürnberg, B Saha, FM Hisama, ...
Human genetics 128, 103-111, 2010
1052010
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