| Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion V Campuzano, L Montermini, MD Moltò, L Pianese, M Cossée, ... Science 271 (5254), 1423-1427, 1996 | 3225 | 1996 |
| DNA duplication associated with Charcot-Marie-Tooth disease type 1A JR Lupski, RM de Oca-Luna, S Slaugenhaupt, L Pentao, V Guzzetta, ... Cell 66 (2), 219-232, 1991 | 1522 | 1991 |
| Mutation of PAX9 is associated with oligodontia DW Stockton, P Das, M Goldenberg, RN D'Souza, PI Patel Nature genetics 24 (1), 18, 2000 | 696 | 2000 |
| The gene for the peripheral myelin protein PMP–22 is a candidate for Charcot–Marie–Tooth disease type 1A PI Patel, BB Roa, AA Welcher, R Schoener-Scott, BJ Trask, L Pentao, ... Nature genetics 1 (3), 159, 1992 | 588 | 1992 |
| Charcot–Marie–Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit L Pentao, CA Wise, AC Chinault, PI Patel, JR Lupski Nature genetics 2 (4), 292, 1992 | 462 | 1992 |
| The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure SI Bidichandani, T Ashizawa, PI Patel The American Journal of Human Genetics 62 (1), 111-121, 1998 | 452 | 1998 |
| Charcot-Marie-Tooth Disease Type 1A--Association with a Spontaneous Point Mutation in the PMP22 Gene BB Roa, CA Garcia, U Suter, DA Kulpa, CA Wise, J Mueller, AA Welcher, ... New England Journal of Medicine 329 (2), 96-101, 1993 | 422 | 1993 |
| Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del (17)(p11. 2). F Greenberg, V Guzzetta, RM de Oca-Luna, RE Magenis, AC Smith, ... American journal of human genetics 49 (6), 1207, 1991 | 421 | 1991 |
| Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17 PF Chance, N Abbas, MW Lensch, L Pentao, BB Roa, PI Patel, JR Lupski Human Molecular Genetics 3 (2), 223-228, 1994 | 371 | 1994 |
| Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A JR Lupski, CA Wise, A Kuwano, L Pentao, JT Parke, DG Glaze, ... Nature genetics 1 (1), 29, 1992 | 354 | 1992 |
| Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes PH Yen, P Patel, AC Chinault, T Mohandas, LJ Shapiro Proceedings of the National Academy of Sciences 81 (6), 1759-1763, 1984 | 269 | 1984 |
| Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication. CA Wise, CA Garcia, SN Davis, Z Heju, L Pentao, PI Patel, JR Lupski American journal of human genetics 53 (4), 853, 1993 | 263 | 1993 |
| Fine structure of the human hypoxanthine phosphoribosyltransferase gene. PI Patel, PE Framson, CT Caskey, AC Chinault Molecular and cellular biology 6 (2), 393-403, 1986 | 250 | 1986 |
| Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia P Das, DW Stockton, C Bauer, LG Shaffer, RN D’Souza, TJ Wright, ... Human genetics 110 (4), 371-376, 2002 | 238 | 2002 |
| Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients TP Yang, PI Patel, AC Chinault, JT Stout, LG Jackson, BM Hildebrand, ... Nature 310 (5976), 412, 1984 | 234 | 1984 |
| Regulation of tissue-specific expression of alternative peripheral myelin protein-22 (PMP22) gene transcripts by two promoters. U Suter, GJ Snipes, R Schoener-Scott, AA Welcher, S Pareek, JR Lupski, ... Journal of Biological Chemistry 269 (41), 25795-25808, 1994 | 208 | 1994 |
| Evidence for a recessive PMP22 point mutation in Charcot–Marie–Tooth disease type 1A BB Roa, CA Garcia, L Pentao, JM Killian, BJ Trask, U Suter, GJ Snipes, ... Nature genetics 5 (2), 189, 1993 | 205 | 1993 |
| Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical … N Yang, H Li, LA Criswell, PK Gregersen, ME Alarcon-Riquelme, R Kittles, ... Human genetics 118 (3-4), 382-392, 2005 | 194 | 2005 |
| Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease PI Patel, JR Lupski Trends in Genetics 10 (4), 128-133, 1994 | 188 | 1994 |
| Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. SI Bidichandani, T Ashizawa, PI Patel American journal of human genetics 60 (5), 1251, 1997 | 183 | 1997 |
