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| Trinucleotide repeat length instability and age of onset in Huntington's disease M Duyao, C Ambrose, R Myers, A Novelletto, F Persichetti, M Frontali, ... Nature genetics 4 (4), 387-392, 1993 | 1148 | 1993 |
| Phenotypic characterization of individuals with 30–40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals … DC Rubinsztein, J Leggo, R Coles, E Almqvist, V Biancalana, ... American journal of human genetics 59 (1), 16, 1996 | 585 | 1996 |
| A signal, from human mtDNA, of postglacial recolonization in Europe A Torroni, HJ Bandelt, V Macaulay, M Richards, F Cruciani, C Rengo, ... The American Journal of Human Genetics 69 (4), 844-852, 2001 | 365 | 2001 |
| The geographic distribution of human Y chromosome variation MF Hammer, AB Spurdle, T Karafet, MR Bonner, ET Wood, A Novelletto, ... Genetics 145 (3), 787-805, 1997 | 351 | 1997 |
| CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012 | 286 | 2012 |
| Phylogeographic analysis of haplogroup E3b (E-M215) Y chromosomes reveals multiple migratory events within and out of Africa F Cruciani, R La Fratta, P Santolamazza, D Sellitto, R Pascone, P Moral, ... The American Journal of Human Genetics 74 (5), 1014-1022, 2004 | 260 | 2004 |
| A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa B Arredi, ES Poloni, S Paracchini, T Zerjal, DM Fathallah, M Makrelouf, ... The American Journal of Human Genetics 75 (2), 338-345, 2004 | 218 | 2004 |
| The Huntington's disease candidate region exhibits many different haplotypes ME MacDonald, A Novelletto, C Lin, D Tagle, G Barnes, G Bates, S Taylor, ... Nature genetics 1 (2), 99-103, 1992 | 192 | 1992 |
| Reduced penetrance of the Huntington's disease mutation SM McNeil, A Novelletto, J Srinidhi, G Barnes, I Kornbluth, MR Altherr, ... Human molecular genetics 6 (5), 775-779, 1997 | 190 | 1997 |
| Y chromosomal haplogroup J as a signature of the post-neolithic colonization of Europe F Di Giacomo, F Luca, LO Popa, N Akar, N Anagnou, J Banyko, R Brdicka, ... Human genetics 115 (5), 357-371, 2004 | 173 | 2004 |
| Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease L Djousse, B Knowlton, M Hayden, EW Almqvist, R Brinkman, C Ross, ... American journal of medical genetics Part A 119 (3), 279-282, 2003 | 172 | 2003 |
| Tracing past human male movements in northern/eastern Africa and western Eurasia: new clues from Y-chromosomal haplogroups E-M78 and J-M12 F Cruciani, R La Fratta, B Trombetta, P Santolamazza, D Sellitto, ... Molecular biology and evolution 24 (6), 1300-1311, 2007 | 171 | 2007 |
| A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study JL Li, MR Hayden, EW Almqvist, RR Brinkman, A Durr, C Dodé, ... The American Journal of Human Genetics 73 (3), 682-687, 2003 | 169 | 2003 |
| Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations R Scozzari, F Cruciani, P Santolamazza, P Malaspina, A Torroni, ... The American Journal of Human Genetics 65 (3), 829-846, 1999 | 140 | 1999 |
| Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I. C Jodice, P Malaspina, F Persichetti, A Novelletto, M Spadaro, P Giunti, ... American journal of human genetics 54 (6), 959, 1994 | 132 | 1994 |
| The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades P Hallast, C Batini, D Zadik, P Maisano Delser, JH Wetton, ... Molecular biology and evolution 32 (3), 661-673, 2015 | 118 | 2015 |
| Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease‐causing mutations in patients … S Akaboshi, BM Hogema, A Novelletto, P Malaspina, GS Salomons, ... Human mutation 22 (6), 442-450, 2003 | 118 | 2003 |
| Protection against malaria morbidity: near-fixation of the α-thalassemia gene in a Nepalese population G Modiano, G Morpurgo, L Terrenato, A Novelletto, A Di Rienzo, ... American journal of human genetics 48 (2), 390, 1991 | 118 | 1991 |
| The human Y chromosome shows a low level of DNA polymorphism P Malaspina, F Persichetti, A Novelletto, C Iodice, L Terrenato, J Wolfe, ... Annals of human genetics 54 (4), 297-305, 1990 | 100 | 1990 |
