Ying-Hui Fu
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
AJMH Verkerk, M Pieretti, JS Sutcliffe, YH Fu, DPA Kuhl, A Pizzuti, ...
Cell 65 (5), 905-914, 1991
Candidate gene for the chromosome 1 familial Alzheimer's disease locus
E Levy-Lahad, W Wasco, P Poorkaj, DM Romano, J Oshima, ...
Science 269 (5226), 973-977, 1995
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
YH Fu, DPA Kuhl, A Pizzuti, M Pieretti, JS Sutcliffe, S Richards, ...
Cell 67 (6), 1047-1058, 1991
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
An hPer2 Phosphorylation Site Mutation in Familial Advanced Sleep Phase Syndrome
KL Toh, CR Jones, Y He, EJ Eide, WA Hinz, DM Virshup, LJ Ptácek, ...
Science 291 (5506), 1040-1043, 2001
An unstable triplet repeat in a gene related to myotonic muscular dystrophy
YH Fu, A Pizzuti, RG Fenwick Jr, J King, S Rajnarayan, PW Dunne, ...
Science 255 (5049), 1256-1258, 1992
Absence of expression of the FMR-1 gene in fragile X syndrome
M Pieretti, F Zhang, YH Fu, ST Warren, BA Oostra, CT Caskey, DL Nelson
Cell 66 (4), 817-822, 1991
Mutations in Kir2. 1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
NM Plaster, R Tawil, M Tristani-Firouzi, S Canún, S Bendahhou, ...
Cell 105 (4), 511-519, 2001
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot–containing protein
ME Brunkow, JC Gardner, J Van Ness, BW Paeper, BR Kovacevich, ...
The American Journal of Human Genetics 68 (3), 577-589, 2001
Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome
Y Xu, QS Padiath, RE Shapiro, CR Jones, SC Wu, N Saigoh, K Saigoh, ...
Nature 434 (7033), 640-644, 2005
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)
M Tristani-Firouzi, JL Jensen, MR Donaldson, V Sansone, G Meola, ...
The Journal of clinical investigation 110 (3), 381-388, 2002
Triplet repeat mutations in human disease
CT Caskey, A Pizzuti, YH Fu, RG Fenwick Jr, DL Nelson
Science 256 (5058), 784-789, 1992
Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria
MK Bruno, M Hallett, K Gwinn-Hardy, B Sorensen, E Considine, S Tucker, ...
Neurology 63 (12), 2280-2287, 2004
Lamin B1 duplications cause autosomal dominant leukodystrophy
QS Padiath, K Saigoh, R Schiffmann, H Asahara, T Yamada, A Koeppen, ...
Nature genetics 38 (10), 1114-1123, 2006
Modeling of a human circadian mutation yields insights into clock regulation by PER2
Y Xu, KL Toh, CR Jones, JY Shin, YH Fu, LJ Ptáček
Cell 128 (1), 59-70, 2007
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy
YH Fu, DL Friedman, S Richards, JA Pearlman, RA Gibbs, A Pizzuti, ...
Science 260 (5105), 235-238, 1993
The transcriptional repressor DEC2 regulates sleep length in mammals
Y He, CR Jones, N Fujiki, Y Xu, B Guo, JL Holder Jr, MJ Rossner, ...
Science 325 (5942), 866-870, 2009
Electrocardiographic Features in Andersen-Tawil Syndrome Patients With KCNJ2 Mutations: Characteristic T-U–Wave Patterns Predict the KCNJ2 Genotype
L Zhang, DW Benson, M Tristani-Firouzi, LJ Ptacek, R Tawil, PJ Schwartz, ...
Circulation 111 (21), 2720-2726, 2005
nit-2, the major positive-acting nitrogen regulatory gene of Neurospora crassa, encodes a sequence-specific DNA-binding protein.
YH Fu, GA Marzluf
Proceedings of the National Academy of Sciences 87 (14), 5331-5335, 1990
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions
HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson, M Hermann, ...
Cell reports 1 (1), 2-12, 2012
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