| Beckwith–wiedemann syndrome R Weksberg, C Shuman, AC Smith American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2005 | 395 | 2005 |
| Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith–Wiedemann syndrome R Weksberg, C Shuman, O Caluseriu, AC Smith, YL Fei, J Nishikawa, ... Human Molecular Genetics 11 (11), 1317-1325, 2002 | 389 | 2002 |
| Unbalanced placental expression of imprinted genes in human intrauterine growth restriction J McMinn, M Wei, N Schupf, J Cusmai, EB Johnson, AC Smith, ... Placenta 27 (6-7), 540-549, 2006 | 380 | 2006 |
| Beckwith–Wiedemann syndrome demonstrates a role for epigenetic control of normal development R Weksberg, AC Smith, J Squire, P Sadowski Human molecular genetics 12 (suppl_1), R61-R68, 2003 | 352 | 2003 |
| Tumor development in the Beckwith–Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1 R Weksberg, J Nishikawa, O Caluseriu, YL Fei, C Shuman, C Wei, ... Human molecular genetics 10 (26), 2989-3000, 2001 | 283 | 2001 |
| Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae L Guo, S Choufani, J Ferreira, A Smith, D Chitayat, C Shuman, R Uxa, ... Developmental biology 320 (1), 79-91, 2008 | 198 | 2008 |
| Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae L Guo, S Choufani, J Ferreira, A Smith, D Chitayat, C Shuman, R Uxa, ... Developmental biology 320 (1), 79-91, 2008 | 198 | 2008 |
| Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein A Hinek, AC Smith, EM Cutiongco, JW Callahan, KW Gripp, R Weksberg The American Journal of Human Genetics 66 (3), 859-872, 2000 | 140 | 2000 |
| A prospective audit of early stoma complications in colorectal cancer treatment throughout the Greater Manchester and Cheshire colorectal cancer network KL Parmar, M Zammit, A Smith, D Kenyon, NP Lees, ... Colorectal disease 13 (8), 935-938, 2011 | 128 | 2011 |
| Growth regulation, imprinted genes, and chromosome 11p15. 5 AC Smith, S Choufani, JC Ferreira, R Weksberg Pediatric research 61 (7), 43-47, 2007 | 121 | 2007 |
| Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies C Shuman, AC Smith, L Steele, PN Ray, C Clericuzio, E Zackai, MA Parisi, ... American journal of medical genetics Part A 140 (14), 1497-1503, 2006 | 95 | 2006 |
| Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome AC Smith, JA Squire, P Thorner, M Zielenska, C Shuman, R Grant, ... Pediatric and Developmental Pathology 4, 550-558, 2001 | 91 | 2001 |
| Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant … A Hinek, S Zhang, AC Smith, JW Callahan The American Journal of Human Genetics 67 (1), 23-36, 2000 | 85 | 2000 |
| Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15. 5 uniparental disomy M Goldman, A Smith, C Shuman, O Caluseriu, C Wei, L Steele, P Ray, ... Journal of the American Society of Nephrology 13 (8), 2077-2084, 2002 | 83 | 2002 |
| Molecular diagnosis of 22q11. 2 deletion and duplication by multiplex ligation dependent probe amplification AC Stachon, B Baskin, AC Smith, A Shugar, C Cytrynbaum, L Fishman, ... American Journal of Medical Genetics Part A 143 (24), 2924-2930, 2007 | 71 | 2007 |
| Imprinting status of 11p15 genes in Beckwith–Wiedemann syndrome patients with CDKN1C mutations M Li, J Squire, C Shuman, J Atkin, R Pauli, A Smith, D Chitayat, ... Genomics 74 (3), 370-376, 2001 | 69 | 2001 |
| New insights into the regulatory function of CYFIP1 in the context of WAVE-and FMRP-containing complexes S Abekhoukh, HB Sahin, M Grossi, S Zongaro, T Maurin, I Madrigal, ... Disease Models & Mechanisms 10 (4), 463-474, 2017 | 67 | 2017 |
| Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy AH O’Donnell-Luria, LS Pais, V Faundes, JC Wood, A Sveden, V Luria, ... The American Journal of Human Genetics 104 (6), 1210-1222, 2019 | 66 | 2019 |
| Preclinical evaluation of the selective small-molecule UBA1 inhibitor, TAK-243, in acute myeloid leukemia SH Barghout, PS Patel, X Wang, GW Xu, S Kavanagh, O Halgas, ... Leukemia 33 (1), 37-51, 2019 | 66 | 2019 |
| Severe presentation of Beckwith–Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15 AC Smith, C Shuman, D Chitayat, L Steele, PN Ray, J Bourgeois, ... American Journal of Medical Genetics Part A 143 (24), 3010-3015, 2007 | 61 | 2007 |
Rosanna WeksbergThe Hospital for Sick Children/University of TorontoVerified email at sickkids.ca
