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| Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems SR Williams, MA Aldred, VM Der Kaloustian, F Halal, G Gowans, ... The American Journal of Human Genetics 87 (2), 219-228, 2010 | 339 | 2010 |
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| Assessment of 2q23. 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder ME Talkowski, SV Mullegama, JA Rosenfeld, BWM Van Bon, Y Shen, ... The American Journal of human genetics 89 (4), 551-563, 2011 | 239 | 2011 |
| Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism MJ Miller, AD Kennedy, AD Eckhart, LC Burrage, JE Wulff, LAD Miller, ... Journal of inherited metabolic disease 38, 1029-1039, 2015 | 213 | 2015 |
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| Gender, genotype, and phenotype differences in Smith–Magenis syndrome: A meta‐analysis of 105 cases EA Edelman, S Girirajan, B Finucane, PI Patel, JR Lupski, ACM Smith, ... Clinical genetics 71 (6), 540-550, 2007 | 183 | 2007 |
| Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast. SH Elsea, N Osheroff, JL Nitiss Journal of Biological Chemistry 267 (19), 13150-13153, 1992 | 168 | 1992 |
| Molecular analyses of 17p11. 2 deletions in 62 Smith-Magenis syndrome patients. RC Juyal, LE Figuera, X Hauge, SH Elsea, JR Lupski, F Greenberg, ... American journal of human genetics 58 (5), 998, 1996 | 165 | 1996 |
| Smith–Magenis Syndrome ACM Smith, AL Gropman Cassidy and Allanson's management of genetic syndromes, 863-893, 2021 | 155 | 2021 |
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| The mousetrap: what we can learn when the mouse model does not mimic the human disease SH Elsea, RE Lucas ILAR journal 43 (2), 66-79, 2002 | 133 | 2002 |
| Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity SR Williams, D Zies, SV Mullegama, MS Grotewiel, SH Elsea The American Journal of Human Genetics 90 (6), 941-949, 2012 | 127 | 2012 |
| Precision of a clinical metabolomics profiling platform for use in the identification of inborn errors of metabolism L Ford, AD Kennedy, KD Goodman, KL Pappan, AM Evans, LAD Miller, ... The Journal of Applied Laboratory Medicine 5 (2), 342-356, 2020 | 125 | 2020 |
| Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of … B Burns, K Schmidt, SR Williams, S Kim, S Girirajan, SH Elsea Human molecular genetics 19 (20), 4026-4042, 2010 | 120 | 2010 |
| New developments in Smith-Magenis syndrome (del 17p11. 2) AL Gropman, S Elsea, WC Duncan Jr, ACM Smith Current Opinion in Neurology 20 (2), 125-134, 2007 | 112 | 2007 |
| Metabolomics in the clinic: A review of the shared and unique features of untargeted metabolomics for clinical research and clinical testing AD Kennedy, BM Wittmann, AM Evans, LAD Miller, DR Toal, S Lonergan, ... Journal of Mass Spectrometry 53 (11), 1143-1154, 2018 | 106 | 2018 |
| A Yeast Type II Topoisomerase Selected for Resistance to Quinolones: MUTATION OF HISTIDINE 1012 TO TYROSINE CONFERS RESISTANCE TO NONINTERCALATIVE DRUGS BUT HYPERSENSITIVITY TO … SH Elsea, Y Hsiung, JL Nitiss, N Osheroff Journal of Biological Chemistry 270 (4), 1913-1920, 1995 | 106 | 1995 |
| Refinement of the Smith–Magenis syndrome critical region to∼ 950 kb and assessment of 17p11. 2 deletions. Are all deletions created equally? CN Vlangos, DKC Yim, SH Elsea Molecular genetics and metabolism 79 (2), 134-141, 2003 | 105 | 2003 |
