| Rett syndrome: revised diagnostic criteria and nomenclature JL Neul, WE Kaufmann, DG Glaze, J Christodoulou, AJ Clarke, ... Annals of neurology 68 (6), 944-950, 2010 | 1573 | 2010 |
| Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes HT Chao, H Chen, RC Samaco, M Xue, M Chahrour, J Yoo, JL Neul, ... Nature 468 (7321), 263-269, 2010 | 1299 | 2010 |
| Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome JL Neul, P Fang, J Barrish, J Lane, EB Caeg, EO Smith, H Zoghbi, A Percy, ... Neurology 70 (16), 1313-1321, 2008 | 594 | 2008 |
| Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome VA Cuddapah, RB Pillai, KV Shekar, JB Lane, KJ Motil, SA Skinner, ... Journal of medical genetics 51 (3), 152-158, 2014 | 334 | 2014 |
| Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males D Del Gaudio, P Fang, F Scaglia, PA Ward, WJ Craigen, DG Glaze, ... Genetics in Medicine 8 (12), 784-792, 2006 | 308 | 2006 |
| Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities RC Samaco, C Mandel-Brehm, HT Chao, CS Ward, SL Fyffe-Maricich, ... Proceedings of the National Academy of Sciences 106 (51), 21966-21971, 2009 | 288 | 2009 |
| The Xenopus dorsalizing factor noggin ventralizes Drosophila embryos by preventing DPP from activating its receptor SA Holley, JL Neul, L Attisano, JL Wrana, Y Sasai, MB O'Connor, ... Cell 86 (4), 607-617, 1996 | 285 | 1996 |
| Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress SL Fyffe, JL Neul, RC Samaco, HT Chao, S Ben-Shachar, P Moretti, ... Neuron 59 (6), 947-958, 2008 | 283 | 2008 |
| Epilepsy and the natural history of Rett syndrome DG Glaze, AK Percy, S Skinner, KJ Motil, JL Neul, JO Barrish, JB Lane, ... Neurology 74 (11), 909-912, 2010 | 249 | 2010 |
| Gastrointestinal and nutritional problems occur frequently throughout life in girls and women with Rett syndrome KJ Motil, E Caeg, JO Barrish, S Geerts, JB Lane, AK Percy, F Annese, ... Journal of pediatric gastroenterology and nutrition 55 (3), 292-298, 2012 | 224 | 2012 |
| Neurologic complications associated with influenza A in children during the 2003–2004 influenza season in Houston, Texas SM Maricich, JL Neul, TE Lotze, AC Cazacu, TM Uyeki, GJ Demmler, ... Pediatrics 114 (5), e626-e633, 2004 | 218 | 2004 |
| A partial loss of function allele of Methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome RC Samaco, JD Fryer, J Ren, S Fyffe, HT Chao, Y Sun, JJ Greer, ... Human molecular genetics 17 (12), 1718-1727, 2008 | 214 | 2008 |
| Preclinical research in Rett syndrome: setting the foundation for translational success DM Katz, JE Berger-Sweeney, JH Eubanks, MJ Justice, JL Neul, ... Disease models & mechanisms 5 (6), 733-745, 2012 | 211 | 2012 |
| Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies RC Samaco, CM McGraw, CS Ward, Y Sun, JL Neul, HY Zoghbi Human molecular genetics 22 (1), 96-109, 2013 | 201 | 2013 |
| Rett syndrome: a prototypical neurodevelopmental disorder JL Neul, HY Zoghbi The Neuroscientist 10 (2), 118-128, 2004 | 201 | 2004 |
| Cerebral folate deficiency with developmental delay, autism, and response to folinic acid P Moretti, T Sahoo, K Hyland, T Bottiglieri, S Peters, D Del Gaudio, B Roa, ... Neurology 64 (6), 1088-1090, 2005 | 170 | 2005 |
| Developmental delay in Rett syndrome: data from the natural history study JL Neul, JB Lane, HS Lee, S Geerts, JO Barrish, F Annese, LMN Baggett, ... Journal of neurodevelopmental disorders 6, 1-9, 2014 | 163 | 2014 |
| Rett syndrome diagnostic criteria: lessons from the Natural History Study AK Percy, JL Neul, DG Glaze, KJ Motil, SA Skinner, O Khwaja, HS Lee, ... Annals of neurology 68 (6), 951-955, 2010 | 162 | 2010 |
| Breathing challenges in Rett syndrome: lessons learned from humans and animal models JM Ramirez, CS Ward, JL Neul Respiratory physiology & neurobiology 189 (2), 280-287, 2013 | 160 | 2013 |
| The relationship of Rett syndrome and MECP2 disorders to autism JL Neul Dialogues in clinical neuroscience 14 (3), 253-262, 2012 | 156 | 2012 |
Walter E KaufmannAdjunct Professor of Human Genetics, Emory University School of MedicineVerified email at emory.edu
