| Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm L Tiepolo, O Zuffardi Human genetics 34, 119-124, 1976 | 1608 | 1976 |
| Human bone marrow–derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms ME Bernardo, N Zaffaroni, F Novara, AM Cometa, MA Avanzini, A Moretta, ... Cancer research 67 (19), 9142-9149, 2007 | 934 | 2007 |
| A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal B Bardoni, E Zanaria, S Guioli, G Floridia, KC Worley, G Tonini, E Ferrante, ... Nature genetics 7 (4), 497-501, 1994 | 805 | 1994 |
| Formation of new chromatin domains determines pathogenicity of genomic duplications M Franke, DM Ibrahim, G Andrey, W Schwarzer, V Heinrich, R Schöpflin, ... Nature 538 (7624), 265-269, 2016 | 667 | 2016 |
| 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 | 645 | 2008 |
| Phosphorylation switches specific for the cardiac isoform of myosin binding protein‐C: a modulator of cardiac contraction? M Gautel, O Zuffardi, A Freiburg, S Labeit The EMBO journal 14 (9), 1952-1960, 1995 | 480 | 1995 |
| 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 | 424 | 2001 |
| Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome F Beuschlein, M Fassnacht, G Assié, D Calebiro, CA Stratakis, A Osswald, ... New England Journal of Medicine 370 (11), 1019-1028, 2014 | 411 | 2014 |
| Disruption of the ProSAP2 gene in at (12; 22)(q24. 1; q13. 3) is associated with the 22q13. 3 deletion syndrome MC Bonaglia, R Giorda, R Borgatti, G Felisari, C Gagliardi, A Selicorni, ... The American Journal of Human Genetics 69 (2), 261-268, 2001 | 367 | 2001 |
| Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell‐therapy approaches: further insights in the search for a fetal calf serum substitute ME Bernardo, MA Avanzini, C Perotti, AM Cometa, A Moretta, E Lenta, ... Journal of cellular physiology 211 (1), 121-130, 2007 | 359 | 2007 |
| Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients M De Gregori, R Ciccone, P Magini, T Pramparo, S Gimelli, J Messa, ... Journal of medical genetics 44 (12), 750-762, 2007 | 342 | 2007 |
| A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and … S Bione, C Sala, C Manzini, G Arrigo, O Zuffardi, S Banfi, G Borsani, ... The American Journal of Human Genetics 62 (3), 533-541, 1998 | 341 | 1998 |
| Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1 I Andolfo, SL Alper, L De Franceschi, C Auriemma, R Russo, L De Falco, ... Blood, The Journal of the American Society of Hematology 121 (19), 3925-3935, 2013 | 328 | 2013 |
| Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ... Nature genetics 44 (4), 445-449, 2012 | 274 | 2012 |
| Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal C Kwok, PA Weller, S Guioli, JW Foster, S Mansour, O Zuffardi, ... American journal of human genetics 57 (5), 1028, 1995 | 257 | 1995 |
| Clinical and molecular delineation of the 17q21. 31 microdeletion syndrome DA Koolen, AJ Sharp, JA Hurst, HV Firth, SJL Knight, A Goldenberg, ... Journal of medical genetics 45 (11), 710-720, 2008 | 250 | 2008 |
| Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13. 3 deletion syndrome MC Bonaglia, R Giorda, E Mani, G Aceti, BM Anderlid, A Baroncini, ... Journal of medical genetics 43 (10), 822-828, 2006 | 240 | 2006 |
| 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 | 235 | 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 | 234 | 2002 |
| The “Cat Eye syndrome”: Dicentric small marker chromosome probably derived from a No. 22 (Tetrasomy 22pter→ q11) associated with a characteristic phenotype: Report of 11 … A Schinzel, W Schmid, M Fraccaro, L Tiepolo, O Zuffardi, JM Opitz, ... Human genetics 57, 148-158, 1981 | 234 | 1981 |
Roberto GiordaBiologist, "E. Medea" SCientific InstituteGeverifieerd e-mailadres voor bp.lnf.it
