Trinucleotide repeat length instability and age of onset in Huntington's disease MP Duyao, CM Ambrose, RH Myers, A Novelletto, F Persichetti, M Frontali, ... Nature genetics 4 (4), 387-392, 1993 | 1410 | 1993 |
Tracing European founder lineages in the Near Eastern mtDNA pool M Richards, V Macaulay, E Hickey, E Vega, B Sykes, V Guida, C Rengo, ... The American Journal of Human Genetics 67 (5), 1251-1276, 2000 | 1298 | 2000 |
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 | 718 | 1996 |
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 | 456 | 2012 |
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 | 399 | 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 | 387 | 1997 |
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 | 292 | 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 | 255 | 2004 |
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 | 231 | 1997 |
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 | 221 | 1992 |
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 | 215 | 2007 |
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 | 215 | 2003 |
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, 357-371, 2004 | 198 | 2004 |
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 | 193 | 2015 |
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 | 191 | 2003 |
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 | 154 | 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 | 151 | 1991 |
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 | 143 | 1994 |
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 | 142 | 1999 |
Large-scale recent expansion of European patrilineages shown by population resequencing C Batini, P Hallast, D Zadik, PM Delser, A Benazzo, S Ghirotto, ... Nature communications 6 (1), 7152, 2015 | 124 | 2015 |