Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2361 | 2010 |
Identification of a gene that causes primary open angle glaucoma EM Stone, JH Fingert, WLM Alward, TD Nguyen, JR Polansky, ... Science 275 (5300), 668-670, 1997 | 1814 | 1997 |
Attachment of a 40-base-pair G+ C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. VC Sheffield, DR Cox, LS Lerman, RM Myers Proceedings of the National Academy of Sciences 86 (1), 232-236, 1989 | 1762 | 1989 |
Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1669 | 2007 |
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis MV Nachury, AV Loktev, Q Zhang, CJ Westlake, J Peränen, A Merdes, ... Cell 129 (6), 1201-1213, 2007 | 1573 | 2007 |
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) LA Everett, B Glaser, JC Beck, JR Idol, A Buchs, M Heyman, F Adawi, ... Nature genetics 17 (4), 411-422, 1997 | 1413 | 1997 |
Comprehensive human genetic maps: individual and sex-specific variation in recombination KW Broman, JC Murray, VC Sheffield, RL White, JL Weber The American Journal of Human Genetics 63 (3), 861-869, 1998 | 1325 | 1998 |
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions VC Sheffield, JS Beck, AE Kwitek, DW Sandstrom, EM Stone Genomics 16 (2), 325-332, 1993 | 963 | 1993 |
A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking, ... Nature 461 (7265), 802-808, 2009 | 808 | 2009 |
The Pendred syndrome gene encodes a chloride-iodide transport protein DA Scott, R Wang, TM Kreman, VC Sheffield, LP Karniski Nature genetics 21 (4), 440-443, 1999 | 766 | 1999 |
A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 737 | 2010 |
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations JH Fingert, E Héon, JM Liebmann, T Yamamoto, JE Craig, J Rait, ... Human molecular genetics 8 (5), 899-905, 1999 | 714 | 1999 |
A comprehensive human linkage map with centimorgan density JC Murray, KH Buetow, JL Weber, S Ludwigsen, T Scherpbier-Heddema, ... Science 265 (5181), 2049-2054, 1994 | 708 | 1994 |
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia RY Walder, D Landau, P Meyer, H Shalev, M Tsolia, Z Borochowitz, ... Nature genetics 31 (2), 171-174, 2002 | 678 | 2002 |
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways L Sang, JJ Miller, KC Corbit, RH Giles, MJ Brauer, EA Otto, LM Baye, ... Cell 145 (4), 513-528, 2011 | 666 | 2011 |
Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31 VC Sheffield, EM Stone, WLM Alward, AV Drack, AT Johnson, LM Streb, ... Nature genetics 4 (1), 47-50, 1993 | 613 | 1993 |
Methylation of the CDH1 promoter as the second genetic hit in hereditary diffuse gastric cancer WM Grady, J Willis, PJ Guilford, AK Dunbier, TT Toro, H Lynch, G Wiesner, ... Nature genetics 26 (1), 16-17, 2000 | 567 | 2000 |
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) WLM Alward, JH Fingert, MA Coote, AT Johnson, SF Lerner, D Junqua, ... New England Journal of Medicine 338 (15), 1022-1027, 1998 | 560 | 1998 |
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy EM Stone, AJ Lotery, FL Munier, E Héon, B Piguet, RH Guymer, ... Nature genetics 22 (2), 199-202, 1999 | 545 | 1999 |
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11) AP Chiang, JS Beck, HJ Yen, MK Tayeh, TE Scheetz, RE Swiderski, ... Proceedings of the National Academy of Sciences 103 (16), 6287-6292, 2006 | 544 | 2006 |