Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals M Koenig, EP Hoffman, CJ Bertelson, AP Monaco, C Feener, LM Kunkel Cell 50 (3), 509-517, 1987 | 3077 | 1987 |
A forkhead-domain gene is mutated in a severe speech and language disorder CSL Lai, SE Fisher, JA Hurst, F Vargha-Khadem, AP Monaco Nature 413 (6855), 519-523, 2001 | 2926 | 2001 |
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ... Nature genetics 45 (9), 984-994, 2013 | 2361 | 2013 |
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 | 2330 | 2010 |
Molecular evolution of FOXP2, a gene involved in speech and language W Enard, M Przeworski, SE Fisher, CSL Lai, V Wiebe, T Kitano, ... Nature 418 (6900), 869-872, 2002 | 2309 | 2002 |
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein M Koenig, AP Monaco, LM Kunkel Cell 53 (2), 219-228, 1988 | 1988 | 1988 |
Mapping autism risk loci using genetic linkage and chromosomal rearrangements Nature genetics 39 (3), 319-328, 2007 | 1656 | 2007 |
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus AP Monaco, CJ Bertelson, S Liechti-Gallati, H Moser, LM Kunkel Genomics 2 (1), 90-95, 1988 | 1589 | 1988 |
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene AP Monaco, RL Neve, C Colletti-Feener, CJ Bertelson, DM Kurnit, ... Nature 323 (6089), 646-650, 1986 | 1414 | 1986 |
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders D Pinto, E Delaby, D Merico, M Barbosa, A Merikangas, L Klei, ... The American Journal of Human Genetics 94 (5), 677-694, 2014 | 1089 | 2014 |
Cloning the gene for an inherited human disorder—chronic granulomatous disease—on the basis of its chromosomal location B Royer-Pokora, LM Kunkel, AP Monaco, SC Goff, PE Newburger, ... Nature 322 (6074), 32-38, 1986 | 1066 | 1986 |
An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita E Zanaria, F Muscatelli, B Bardoni, TM Strom, S Guioli, W Guo, E Lalli, ... Nature 372 (6507), 635-641, 1994 | 1016 | 1994 |
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease A Sakuntabhai, V Ruiz-Perez, S Carter, N Jacobsen, S Burge, S Monk, ... Nature genetics 21 (3), 271-277, 1999 | 960 | 1999 |
Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism F Muscatelli, TM Strom, AP Walker, E Zanaria, D Récan, A Meindl, ... Nature 372 (6507), 672-676, 1994 | 884 | 1994 |
A functional genetic link between distinct developmental language disorders SC Vernes, DF Newbury, BS Abrahams, L Winchester, J Nicod, M Groszer, ... New England Journal of Medicine 359 (22), 2337-2345, 2008 | 871 | 2008 |
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein J Chelly, Z Tümer, T Tønnesen, A Petterson, Y Ishikawa-Brush, ... Nature genetics 3 (1), 14-19, 1993 | 865 | 1993 |
Localisation of a gene implicated in a severe speech and language disorder SE Fisher, F Vargha-Khadem, KE Watkins, AP Monaco, ME Pembrey Nature genetics 18 (2), 168-170, 1998 | 836 | 1998 |
A genome-wide linkage and association scan reveals novel loci for autism LA Weiss, DE Arking, ... Nature 461 (7265), 802-808, 2009 | 801 | 2009 |
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 | 727 | 2010 |
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. LM Kunkel, AP Monaco, W Middlesworth, HD Ochs, SA Latt Proceedings of the National Academy of Sciences 82 (14), 4778-4782, 1985 | 647 | 1985 |