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| Waardenberg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS consortium LA Farrer, KM Grundfast, J Amos, KS Arnos, JH Asher, P Beighton, ... American journal of human genetics 50 (5), 902, 1992 | 288 | 1992 |
| Molecular analysis of juvenile Huntington disease: the major influence on (CAG) n repeat length is the sex of the affected parent H Telenius, HPH Kremer, J Thellmann, SE Andrew, E Almqvist, M Anvret, ... Human molecular genetics 2 (10), 1535-1540, 1993 | 274 | 1993 |
| The guanine-thymine dinucleotide repeat polymorphism within the tenascin-C gene is associated with achilles tendon injuries GG Mokone, M Gajjar, AV September, MP Schwellnus, J Greenberg, ... The American journal of sports medicine 33 (7), 1016-1021, 2005 | 262 | 2005 |
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| Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11 WJ Kimberling, CG Möller, S Davenport, IA Priluck, PH Beighton, ... Genomics 14 (4), 988-994, 1992 | 195 | 1992 |
| Current emergency department management of stroke in Houston, Texas P Bratina, L Greenberg, W Pasteur, JC Grotta Stroke 26 (3), 409-414, 1995 | 182 | 1995 |
| Data services and software for identifying genes and mutations causing retinal degeneration SP Daiger, BJF Rossiter, J Greenberg, A Christoffels, W Hide Invest Ophthalmol Vis Sci 39 (S295), 1998 | 134 | 1998 |
| Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa G Rebello, R Ramesar, A Vorster, L Roberts, L Ehrenreich, E Oppon, ... Proceedings of the National Academy of Sciences 101 (17), 6617-6622, 2004 | 126 | 2004 |
| Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism. RA Spritz, SA Holmes, R Ramesar, J Greenberg, D Curtis, P Beighton American journal of human genetics 51 (5), 1058, 1992 | 117 | 1992 |
| Efficacy and cardiac safety of adjuvant trastuzumab-based chemotherapy regimens for HER2-positive early breast cancer RB Costa, G Kurra, L Greenberg, CE Geyer Annals of oncology 21 (11), 2153-2160, 2010 | 114 | 2010 |
| The hereditary adult-onset ataxias in South Africa A Bryer, A Krause, P Bill, V Davids, D Bryant, J Butler, J Heckmann, ... Journal of the neurological sciences 216 (1), 47-54, 2003 | 108 | 2003 |
| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 107 | 2020 |
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| A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17 J Greenberg, R Goliath, P Beighton, R Ramesar Human molecular genetics 3 (6), 915-918, 1994 | 100 | 1994 |
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