| Mendelian inheritance in man VA McKusick, CA Francomano, SE Antonarakis Johns Hopkins University Press 2, 1580, 1992 | 6442 | 1992 |
| Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene HC Dietz, CR Cutting, RE Pyeritz, CL Maslen, LY Sakai, GM Corson, ... Nature 352 (6333), 337-339, 1991 | 2456 | 1991 |
| The 2017 international classification of the Ehlers–Danlos syndromes F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017 | 1891 | 2017 |
| Achondroplasia is defined by recurrent G380R mutations of FGFR3 GA Bellus, TW Hefferon, RIO de Luna, JT Hecht, WA Horton, M Machado, ... American journal of human genetics 56 (2), 368, 1995 | 652 | 1995 |
| Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. WF Schwindinger, CA Francomano, MA Levine Proceedings of the National Academy of Sciences 89 (11), 5152-5156, 1992 | 550 | 1992 |
| A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia GA Bellus, I McIntosh, EA Smith, AS Aylsworth, I Kaitila, WA Horton, ... Nature genetics 10 (3), 357-359, 1995 | 527 | 1995 |
| The skipping of constitutive exons in vivo induced by nonsense mutations HC Dietz, D Valle, CA Francomano, RJ Kendzior Jr, RE Pyeritz, ... Science 259 (5095), 680-683, 1993 | 495 | 1993 |
| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome M Muenke, KW Gripp, DM McDonald-McGinn, K Gaudenz, LA Whitaker, ... American journal of human genetics 60 (3), 555, 1997 | 470 | 1997 |
| The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon … Z Vajo, CA Francomano, DJ Wilkin Endocrine reviews 21 (1), 23-39, 2000 | 464 | 2000 |
| Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia JT Hecht, LD Nelson, E Crowder, Y Wang, FFB Elder, WR Harrison, ... Nature genetics 10 (3), 325-329, 1995 | 433 | 1995 |
| Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome HC Dietz, I McIntosh, LY Sakai, GM Corson, SC Chalberg, RE Pyeritz, ... Genomics 17 (2), 468-475, 1993 | 397 | 1993 |
| Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis Y Gong, D Krakow, J Marcelino, D Wilkin, D Chitayat, R Babul-Hirji, ... Nature genetics 21 (3), 302-304, 1999 | 393 | 1999 |
| Career development for women in academic medicine: Multiple interventions in a department of medicine LP Fried, CA Francomano, SM MacDonald, EM Wagner, EJ Stokes, ... Jama 276 (11), 898-905, 1996 | 392 | 1996 |
| Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis VL Ruiz-Perez, SE Ide, TM Strom, B Lorenz, D Wilson, K Woods, L King, ... Nature genetics 24 (3), 283-286, 2000 | 390 | 2000 |
| A novel nemaline myopathy in the Amish caused by a mutation in troponin T1 JJ Johnston, RI Kelley, TO Crawford, DH Morton, R Agarwala, T Koch, ... The American Journal of Human Genetics 67 (4), 814-821, 2000 | 371 | 2000 |
| Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes GA Bellus, K Gaudenz, EH Zackai, LA Clarke, J Szabo, CA Francomano, ... Nature genetics 14 (2), 174-176, 1996 | 366 | 1996 |
| Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population … SJ Hwang, TH Beaty, SR Panny, NA Street, JM Joseph, S Gordon, ... American Journal of Epidemiology 141 (7), 629-636, 1995 | 348 | 1995 |
| A type X collagen mutation causes Schmid metaphyseal chondrodysplasia ML Warman, M Abbott, SS Apte, T Hefferon, I McIntosh, DH Cohn, ... Nature genetics 5 (1), 79-82, 1993 | 321 | 1993 |
| Syndrome of occipitoatlantoaxial hypermobility, cranial settling, and chiari malformation type I in patients with hereditary disorders of connective tissue TH Milhorat, PA Bolognese, M Nishikawa, NB McDonnell, ... Journal of Neurosurgery: Spine 7 (6), 601-609, 2007 | 307 | 2007 |
| Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons G Nijbroek, S Sood, I McIntosh, CA Francomano, E Bull, L Pereira, ... American journal of human genetics 57 (1), 8, 1995 | 289 | 1995 |