Initial sequencing and analysis of the human genome US DOE Joint Genome Institute: Hawkins Trevor 4 Branscomb Elbert 4 Predki ... nature 409 (6822), 860-921, 2001 | 31558 | 2001 |
Initial sequencing and comparative analysis of the mouse genome European Bioinformatics Institute: Birney Ewan 3 Goldman Nick 3 Kasprzyk ... Nature 420 (6915), 520-562, 2002 | 8723 | 2002 |
The Genome Sequence of Drosophila melanogaster MD Adams, SE Celniker, RA Holt, CA Evans, JD Gocayne, ... Science 287 (5461), 2185-2195, 2000 | 8403 | 2000 |
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 | 4327 | 1991 |
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 | 2610 | 1991 |
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 | 1777 | 1991 |
Evolutionary and biomedical insights from the rhesus macaque genome RA Gibbs, J Rogers, MG Katze, R Bumgarner, GM Weinstock, ER Mardis, ... science 316 (5822), 222-234, 2007 | 1578 | 2007 |
The DNA sequence of the human X chromosome MT Ross, DV Grafham, AJ Coffey, S Scherer, K McLay, D Muzny, ... Nature 434 (7031), 325-337, 2005 | 1438 | 2005 |
Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, ... Nature 405 (6785), 466-472, 2000 | 906 | 2000 |
DNA methylation represses FMR-1 transcription in fragile X syndrome JS Sutcliffe, DL Nelson, F Zhang, M Pieretti, CT Caskey, D Saxe, ... Human molecular genetics 1 (6), 397-400, 1992 | 867 | 1992 |
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway P Jin, DC Zarnescu, S Ceman, M Nakamoto, J Mowrey, TA Jongens, ... Nature neuroscience 7 (2), 113-117, 2004 | 808 | 2004 |
Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources. DL Nelson, SA Ledbetter, L Corbo, MF Victoria, R Ramírez-Solis, ... Proceedings of the National Academy of Sciences 86 (17), 6686-6690, 1989 | 803 | 1989 |
A mutation in human CMP-sialic acid hydroxylase occurred after the Homo-Pan divergence HH Chou, H Takematsu, S Diaz, J Iber, E Nickerson, KL Wright, ... Proceedings of the National Academy of Sciences 95 (20), 11751-11756, 1998 | 764 | 1998 |
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 T Matsuura, T Yamagata, DL Burgess, A Rasmussen, RP Grewal, ... Nature genetics 26 (2), 191-194, 2000 | 626 | 2000 |
Length of uninterrupted CGG repeats determines instability in the FMR1 gene EE Eichler, JJA Holden, BW Popovich, AL Reiss, K Snow, SN Thibodeau, ... Nature genetics 8 (1), 88-94, 1994 | 621 | 1994 |
The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase O Attree, IM Olivos, I Okabe, LC Bailey, DL Nelson, RA Lewis, ... Nature 358 (6383), 239-242, 1992 | 589 | 1992 |
Triplet repeat mutations in human disease CT Caskey, A Pizzuti, YH Fu, RG Fenwick Jr, DL Nelson Science 256 (5058), 784-789, 1992 | 563 | 1992 |
Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome HL Hinds, CT Ashley, JS Sutcliffe, DL Nelson, ST Warren, DE Housman, ... Nature genetics 3 (1), 36-43, 1993 | 514 | 1993 |
X-linked situs abnormalities result from mutations in ZIC3 M Gebbia, GB Ferrero, G Pilia, MT Bassi, AS Aylsworth, M Penman-Splitt, ... Nature genetics 17 (3), 305-308, 1997 | 478 | 1997 |
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome SKE Koekkoek, K Yamaguchi, BA Milojkovic, BR Dortland, TJH Ruigrok, ... Neuron 47 (3), 339-352, 2005 | 474 | 2005 |