| A novel X-linked gene, G4. 5. is responsible for Barth syndrome S Bione, P D'Adamo, E Maestrini, AK Gedeon, PA Bolhuis, D Toniolo Nature genetics 12 (4), 385-389, 1996 | 894 | 1996 |
| Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy P Strømme, ME Mangelsdorf, MA Shaw, KM Lower, SME Lewis, ... Nature genetics 30 (4), 441-445, 2002 | 516 | 2002 |
| Mutations in GDI1 are responsible for X-linked non-specific mental retardation (vol 19, pg 134, 1998) P D'Adamo, A Menegon, C Lo Nigro, M Grasso, M Gulisano, F Tamanini, ... NATURE GENETICS 19 (3), 303-303, 1998 | 409* | 1998 |
| Mutations in GDI1 are responsible for X-linked non-specific mental retardation P D'Adamo, A Menegon, CL Nigro, M Grasso, M Gulisano, F Tamanini, ... Nature genetics 19 (2), 134-139, 1998 | 409 | 1998 |
| Identification of the gene FMR2, associated with FRAXE mental retardation J Gecz, AK Gedeon, GR Sutherland, JC Mulley Nature genetics 13 (1), 105-108, 1996 | 349 | 1996 |
| The X-linked gene G4. 5 is responsible for different infantile dilated cardiomyopathies P D'Adamo, L Fassone, A Gedeon, EAM Janssen, S Bione, PA Bolhuis, ... The American Journal of Human Genetics 61 (4), 862-867, 1997 | 310 | 1997 |
| Fragile X syndrome without CCG amplification has an FMR1 deletion AK Gedeon, E Baker, H Robinson, MW Partington, B Gross, A Manca, ... Nature Genetics 1 (5), 341-344, 1992 | 268 | 1992 |
| Fragile-X syndrome: unique genetics of the heritable unstable element S Yu, J Mulley, D Loesch, G Turner, A Donnelly, A Gedeon, D Hillen, ... American journal of human genetics 50 (5), 968, 1992 | 253 | 1992 |
| Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda ÁK Gedeon, A Colley, R Jamieson, EM Thompson, J Rogers, D Sillence, ... Nature genetics 22 (4), 400-404, 1999 | 247 | 1999 |
| Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome KM Lower, G Turner, BA Kerr, KD Mathews, MA Shaw, ÁK Gedeon, ... Nature genetics 32 (4), 661-665, 2002 | 246 | 2002 |
| Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene MR Davis, E Haan, H Jungbluth, C Sewry, K North, F Muntoni, T Kuntzer, ... Neuromuscular Disorders 13 (2), 151-157, 2003 | 152 | 2003 |
| Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28 LC Ades, AK Gedeon, MJ Wilson, M Latham, MW Partington, JC Mulley, ... American Journal of Medical Genetics Part A 45 (3), 327-334, 1993 | 146 | 1993 |
| The molecular basis of X-linked spondyloepiphyseal dysplasia tarda AK Gedeon, GE Tiller, M Le Merrer, S Heuertz, L Tranebjaerg, D Chitayat, ... The American Journal of Human Genetics 68 (6), 1386-1397, 2001 | 131 | 2001 |
| Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence GR Sutherland, A Gedeon, L Kornman, A Donnelly, RW Byard, JC Mulley, ... New England Journal of Medicine 325 (24), 1720-1722, 1991 | 130 | 1991 |
| FRAXE and mental retardation. JC Mulley, S Yu, DZ Loesch, DA Hay, A Donnelly, AK Gedeon, ... Journal of medical genetics 32 (3), 162-169, 1995 | 114 | 1995 |
| Genotype-phenotype relationships in fragile X syndrome: a family study. DZ Loesch, R Huggins, DA Hay, AK Gedeon, JC Mulley, GR Sutherland American journal of human genetics 53 (5), 1064, 1993 | 99 | 1993 |
| X chromosome inactivation in carriers of Barth syndrome KH Ørstavik, RE Ørstavik, AK Naumova, P D'Adamo, A Gedeon, ... The American Journal of Human Genetics 63 (5), 1457-1463, 1998 | 88 | 1998 |
| X‐linked mild non‐syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3 AK Gedeon, J Nelson, J Gécz, JC Mulley American Journal of Medical Genetics Part A 120 (4), 509-517, 2003 | 82 | 2003 |
| Börjeson‐Forssman‐Lehmann syndrome: Clinical manifestations and gene localization to Xq26‐27 G Turner, A Gedeon, J Mulley, G Sutherland, J Rae, K Power, I Arthur American journal of medical genetics 34 (4), 463-469, 1989 | 80 | 1989 |
| Non-specific X linked mental retardation. B Kerr, G Turner, J Mulley, A Gedeon, M Partington Journal of medical genetics 28 (6), 378-382, 1991 | 79 | 1991 |
