| Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22 JA Bailey, AM Yavor, L Viggiano, D Misceo, JE Horvath, N Archidiacono, ... The American Journal of Human Genetics 70 (1), 83-100, 2002 | 214 | 2002 |
| The common marmoset genome provides insight into primate biology and evolution TMG Sequencing, Analysis Consortium Nature genetics 46 (8), 850, 2014 | 204 | 2014 |
| Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ... Neurology 86 (23), 2171-2178, 2016 | 183 | 2016 |
| A Dominant STIM 1 Mutation Causes S tormorken Syndrome D Misceo, A Holmgren, WE Louch, PA Holme, M Mizobuchi, RJ Morales, ... Human mutation 35 (5), 556-564, 2014 | 183 | 2014 |
| Recurrent sites for new centromere seeding M Ventura, S Weigl, L Carbone, MF Cardone, D Misceo, M Teti, ... Genome Research 14 (9), 1696-1703, 2004 | 167 | 2004 |
| Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres R Stanyon, M Rocchi, O Capozzi, R Roberto, D Misceo, M Ventura, ... Chromosome Research 16, 17-39, 2008 | 149 | 2008 |
| Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster DP Locke, N Archidiacono, D Misceo, MF Cardone, S Deschamps, B Roe, ... Genome Biology 4, 1-9, 2003 | 149 | 2003 |
| YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction M Gabriele, AT Vulto-van Silfhout, PL Germain, A Vitriolo, R Kumar, ... The American Journal of Human Genetics 100 (6), 907-925, 2017 | 132 | 2017 |
| Evolutionary movement of centromeres in horse, donkey, and zebra L Carbone, SG Nergadze, E Magnani, D Misceo, MF Cardone, R Roberto, ... Genomics 87 (6), 777-782, 2006 | 122 | 2006 |
| Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy D Kotlarz, B Marquardt, T Barøy, WS Lee, L Konnikova, S Hollizeck, ... Nature genetics 50 (3), 344-348, 2018 | 119 | 2018 |
| A preliminary comparative analysis of primate segmental duplications shows elevated substitution rates and a great-ape expansion of intrachromosomal duplications X She, G Liu, M Ventura, S Zhao, D Misceo, R Roberto, MF Cardone, ... Genome research 16 (5), 576-583, 2006 | 115 | 2006 |
| A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform T Barøy, J Koster, P Strømme, MS Ebberink, D Misceo, S Ferdinandusse, ... Human molecular genetics 24 (20), 5845-5854, 2015 | 86 | 2015 |
| Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration P Strømme, S Groeneweg, EC Lima de Souza, C Zevenbergen, ... Thyroid 28 (11), 1406-1415, 2018 | 70 | 2018 |
| Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions IM Wedding, J Koht, GT Tran, D Misceo, KK Selmer, A Holmgren, ... PloS one 9 (1), e86340, 2014 | 61 | 2014 |
| SCA27 caused by a chromosome translocation: further delineation of the phenotype D Misceo, M Fannemel, T Barøy, R Roberto, B Tvedt, T Jaeger, V Bryn, ... Neurogenetics 10, 371-374, 2009 | 53 | 2009 |
| Tracking the complex flow of chromosome rearrangements from the Hominoidea ancestor to extant Hylobates and Nomascus gibbons by high-resolution synteny mapping D Misceo, O Capozzi, R Roberto, MP Dell’Oglio, M Rocchi, R Stanyon, ... Genome research 18 (9), 1530-1537, 2008 | 48 | 2008 |
| Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications JE Horvath, CL Gulden, JA Bailey, C Yohn, JD McPherson, A Prescott, ... Molecular biology and evolution 20 (9), 1463-1479, 2003 | 41 | 2003 |
| A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan–McDermid syndrome and hypergonadotropic … D Misceo, OK Rødningen, T Barøy, H Sorte, JR Mellembakken, ... American Journal of Medical Genetics Part A 155 (2), 403-408, 2011 | 38 | 2011 |
| Divergent origins and concerted expansion of two segmental duplications on chromosome 16 EE Eichler, ME Johnson, C Alkan, E Tuzun, C Sahinalp, D Misceo, ... Journal of Heredity 92 (6), 462-468, 2001 | 35 | 2001 |
| A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms E Hladilkova, T Barøy, M Fannemel, V Vallova, D Misceo, V Bryn, ... Molecular cytogenetics 8, 1-7, 2015 | 32 | 2015 |
