| A systematic analysis of human disease-associated gene sequences in Drosophila melanogaster LT Reiter, L Potocki, S Chien, M Gribskov, E Bier Genome research 11 (6), 1114-1125, 2001 | 1067 | 2001 |
| A recombination hotspot responsible for two inherited peripheral neuropathies is located near a mariner transposon-like element LT Reiter, T Murakami, T Koeuth, L Pentao, DM Muzny, RA Gibbs, ... Nature genetics 12 (3), 288-297, 1996 | 357 | 1996 |
| Homophila: human disease gene cognates in Drosophila S Chien, LT Reiter, E Bier, M Gribskov Nucleic acids research 30 (1), 149-151, 2002 | 217 | 2002 |
| Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients LT Reiter, PJ Hastings, E Nelis, P De Jonghe, C Van Broeckhoven, ... The American Journal of Human Genetics 62 (5), 1023-1033, 1998 | 182 | 1998 |
| The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes K Inoue, K Dewar, N Katsanis, LT Reiter, ES Lander, KL Devon, ... Genome research 11 (6), 1018-1033, 2001 | 158 | 2001 |
| The interstitial duplication 15q11. 2‐q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature N Urraca, J Cleary, V Brewer, EK Pivnick, K McVicar, RL Thibert, ... Autism Research 6 (4), 268-279, 2013 | 118 | 2013 |
| Analysis of cerebellar function in Ube3a-deficient mice reveals novel genotype-specific behaviors DH Heck, Y Zhao, S Roy, MS LeDoux, LT Reiter Human molecular genetics 17 (14), 2181-2189, 2008 | 105 | 2008 |
| Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase LT Reiter, TN Seagroves, M Bowers, E Bier Human molecular genetics 15 (18), 2825-2835, 2006 | 100 | 2006 |
| The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs LT Reiter, T Murakami, T Koeuth, RA Gibbs, JR Lupski Human molecular genetics 6 (9), 1595-1603, 1997 | 100 | 1997 |
| Charcot-Marie-Tooth disease and related inherited neuropathies. T Murakami, CA Garcia, LT Reiter, JR Lupski Medicine 75 (5), 233-250, 1996 | 89 | 1996 |
| Epigenetic regulation of UBE3A and roles in human neurodevelopmental disorders JM LaSalle, LT Reiter, SJ Chamberlain Epigenomics 7 (7), 1213-1228, 2015 | 82 | 2015 |
| Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13. 1 ND Germain, PF Chen, AM Plocik, H Glatt-Deeley, J Brown, JJ Fink, ... Molecular autism 5 (1), 1-19, 2014 | 74 | 2014 |
| Detection of the CMT1A/HNPP recombination hotspot in unrelated patients of European descent. V Timmerman, B Rautenstrauss, LT Reiter, T Koeuth, A Löfgren, T Liehr, ... Journal of medical genetics 34 (1), 43-49, 1997 | 71 | 1997 |
| A survey of seizures and current treatments in 15q duplication syndrome KD Conant, B Finucane, N Cleary, A Martin, C Muss, M Delany, ... Epilepsia 55 (3), 396-402, 2014 | 69 | 2014 |
| Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samples HA Scoles, N Urraca, SW Chadwick, LT Reiter, JM LaSalle Molecular autism 2 (1), 1-15, 2011 | 69 | 2011 |
| Using Drosophila melanogaster to uncover human disease gene function and potential drug target proteins E Bier, LT Reiter Expert opinion on therapeutic targets 6 (3), 387-399, 2002 | 51 | 2002 |
| 15q duplication syndrome and related disorders BM Finucane, L Lusk, D Arkilo, S Chamberlain, O Devinsky, S Dindot, ... GeneReviews®[Internet], 2016 | 47 | 2016 |
| Molecular mechanisms for CMT1A duplication and HNPP deletion CF Boerkoel, K Inoue, LT Reiter, LE Warner, JR Lupski Annals of the New York Academy of Sciences 883 (1), 22-35, 1999 | 45 | 1999 |
| Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis L Jensen, MF Farook, LT Reiter PloS one 8 (4), e61952, 2013 | 37 | 2013 |
| Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome C DiStefano, A Gulsrud, S Huberty, C Kasari, E Cook, LT Reiter, R Thibert, ... Journal of neurodevelopmental disorders 8 (1), 1-13, 2016 | 36 | 2016 |
James LupskiBaylor College of MedicineVerified email at bcm.edu
