| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 854 | 2008 |
| A recurrent 15q13. 3 microdeletion syndrome associated with mental retardation and seizures AJ Sharp, HC Mefford, K Li, C Baker, C Skinner, RE Stevenson, ... Nature genetics 40 (3), 322-328, 2008 | 665 | 2008 |
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 546 | 2011 |
| Olfactory receptor–gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements S Giglio, KW Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, ... The American Journal of Human Genetics 68 (4), 874-883, 2001 | 430 | 2001 |
| Immunolocalization of CENP-A suggests a distinct nucleosome structure at the inner kinetochore plate of active centromeres PE Warburton, CA Cooke, S Bourassa, O Vafa, BA Sullivan, G Stetten, ... Current Biology 7 (11), 901-904, 1997 | 415 | 1997 |
| Intravascular ultrasound criteria for the assessment of the functional significance of intermediate coronary artery stenoses and comparison with fractional flow reserve C Briguori, A Anzuini, F Airoldi, G Gimelli, T Nishida, M Adamian, ... The American journal of cardiology 87 (2), 136-141, 2001 | 346 | 2001 |
| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. A Ballabio, B Bardoni, R Carrozzo, G Andria, D Bick, L Campbell, ... Proceedings of the National Academy of Sciences 86 (24), 10001-10005, 1989 | 316 | 1989 |
| The 11q; 22q translocation: a European collaborative analysis of 43 cases M Fraccaro, J Lindsten, CE Ford, L Iselius, A Antonelli, P Aula, A Aurias, ... Human genetics 56, 21-51, 1980 | 237 | 1980 |
| Heterozygous submicroscopic inversions involving olfactory receptor–gene clusters mediate the recurrent t (4; 8)(p16; p23) translocation S Giglio, V Calvari, G Gregato, G Gimelli, S Camanini, R Giorda, ... The American Journal of Human Genetics 71 (2), 276-285, 2002 | 235 | 2002 |
| Characterization of a recurrent 15q24 microdeletion syndrome AJ Sharp, RR Selzer, JA Veltman, S Gimelli, G Gimelli, P Striano, ... Human molecular genetics 16 (5), 567-572, 2007 | 201 | 2007 |
| Escape from gene silencing in ICF syndrome: evidence for advanced replication time as a major determinant RS Hansen, R Stöger, C Wijmenga, AM Stanek, TK Canfield, P Luo, ... Human molecular genetics 9 (18), 2575-2587, 2000 | 200 | 2000 |
| Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2 JC De Greef, J Wang, J Balog, JT Den Dunnen, RR Frants, ... The American Journal of Human Genetics 88 (6), 796-804, 2011 | 195 | 2011 |
| Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions G Gimelli, MA Pujana, MG Patricelli, S Russo, D Giardino, L Larizza, ... Human molecular genetics 12 (8), 849-858, 2003 | 163 | 2003 |
| Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects CMR Weemaes, MJ Van Tol, J Wang, MM van Ostaijen-Ten Dam, ... European Journal of Human Genetics 21 (11), 1219-1225, 2013 | 154 | 2013 |
| Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) MM Hagleitner, A Lankester, P Maraschio, M Hultén, JP Fryns, C Schuetz, ... Journal of medical genetics 45 (2), 93-99, 2008 | 147 | 2008 |
| Overexpression of the C‐type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t (2; 7) translocation R Bocciardi, R Giorda, J Buttgereit, S Gimelli, MT Divizia, S Beri, ... Human mutation 28 (7), 724-731, 2007 | 142 | 2007 |
| The same molecular mechanism at the maternal meiosis I produces mono-and dicentric 8p duplications. G Floridia, M Piantanida, A Minelli, C Dellavecchia, C Bonaglia, E Rossi, ... American journal of human genetics 58 (4), 785, 1996 | 132 | 1996 |
| Transmission of a fully functional human neocentromere through three generations C Tyler-Smith, G Gimelli, S Giglio, G Floridia, A Pandya, G Terzoli, ... The American Journal of Human Genetics 64 (5), 1440-1444, 1999 | 131 | 1999 |
| Multibranched chromosomes 1, 9, and 16 in a patient with combined IgA and IgE deficiency L Tiepolo, P Maraschio, G Gimelli, C Cuoco, GF Gargani, C Romano Human genetics 51, 127-137, 1979 | 130 | 1979 |
| Detailed phenotype–genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader–Willi-like phenotype MC Bonaglia, R Ciccone, G Gimelli, S Gimelli, S Marelli, J Verheij, ... European Journal of Human Genetics 16 (12), 1443-1449, 2008 | 114 | 2008 |
