| 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 | 4196 | 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 | 3573 | 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 | 2582 | 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 | 2058 | 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 | 1823 | 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 | 1781 | 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 | 1727 | 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 | 1177 | 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 | 1162 | 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 | 985 | 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 | 668 | 2002 |
| Triplet repeat mutations in human disease CT Caskey, A Pizzuti, YH Fu, RG Fenwick Jr, DL Nelson Science 256 (5058), 784-789, 1992 | 553 | 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 | 470 | 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 | 469 | 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 | 441 | 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 | 413 | 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 | 405 | 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 | 340 | 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 | 305 | 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 | 295 | 2012 |
