| Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. C Wicking, S Shanley, I Smyth, S Gillies, K Negus, S Graham, G Suthers, ... American journal of human genetics 60 (1), 21, 1997 | 337 | 1997 |
| Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35 ML Marazita, JC Murray, AC Lidral, M Arcos-Burgos, ME Cooper, ... The American Journal of Human Genetics 75 (2), 161-173, 2004 | 307 | 2004 |
| Teratogen update: gestational effects of maternal hyperthermia due to febrile illnesses and resultant patterns of defects in humans. JM Graham Jr, MJ Edwards Teratology 58 (5), 209-221, 1998 | 290 | 1998 |
| Mutation Analysis of the MEN1 Gene in Multiple Endocrine Neoplasia Type 1, Familial Acromegaly and Familial Isolated Hyperparathyroidism Mutation analysis group:, BT Teh, S Kytölä, F Farnebo, L Bergman, ... The Journal of Clinical Endocrinology & Metabolism 83 (8), 2621-2626, 1998 | 214 | 1998 |
| Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system S Lunke, S Eggers, M Wilson, C Patel, CP Barnett, J Pinner, ... Jama 323 (24), 2503-2511, 2020 | 150 | 2020 |
| ACTB loss-of-function mutations result in a pleiotropic developmental disorder S Cuvertino, HM Stuart, KE Chandler, NA Roberts, R Armstrong, ... The American Journal of Human Genetics 101 (6), 1021-1033, 2017 | 107 | 2017 |
| The impact of Huntington's disease on family life M Vamos, J Hambridge, M Edwards, J Conaghan Psychosomatics 48 (5), 400-404, 2007 | 106 | 2007 |
| GDF5 is a second locus for multiple-synostosis syndrome K Dawson, P Seeman, E Sebald, L King, M Edwards, J Williams, ... The American Journal of Human Genetics 78 (4), 708-712, 2006 | 102 | 2006 |
| Ectopia lentis phenotypes and the FBN1 gene LC Ades, KJ Holman, MS Brett, MJ Edwards, B Bennetts American journal of medical genetics Part A 126 (3), 284-289, 2004 | 102 | 2004 |
| Case‐control study of cleft lip or palate after maternal use of topical corticosteroids during pregnancy MJ Edwards, K Agho, J Attia, P Diaz, T Hayes, A Illingworth, LG Roddick American Journal of Medical Genetics Part A 120 (4), 459-463, 2003 | 97 | 2003 |
| Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and … N Dang, S Klingberg, AI Rubin, M Edwards, S Borelli, J Relic, P Marr, ... Acta dermato-venereologica 88 (5), 438-448, 2008 | 85 | 2008 |
| The adult phenotype in Costello syndrome SM White, JM Graham Jr, B Kerr, K Gripp, R Weksberg, C Cytrynbaum, ... American Journal of Medical Genetics Part A 136 (2), 128-135, 2005 | 83 | 2005 |
| Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosiac parent exhibits phenotypic features of a … MJ Edwards, RJ Wenstrup, PH Byers, DH Cohn Human mutation 1 (1), 47-54, 1992 | 81 | 1992 |
| Molecular consequences of dominant Bethlem myopathy collagen VI mutations NL Baker, M Mörgelin, RA Pace, RA Peat, NE Adams, RJMK Gardner, ... Annals of neurology 62 (4), 390-405, 2007 | 77 | 2007 |
| OA1 mutations and deletions in X-linked ocular albinism RE Schnur, M Gao, PA Wick, M Keller, PJ Benke, MJ Edwards, AW Grix, ... The American Journal of Human Genetics 62 (4), 800-809, 1998 | 75 | 1998 |
| Twenty‐six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS) I Wieland, W Reardon, S Jakubiczka, B Franco, W Kress, ... Human mutation 26 (2), 113-118, 2005 | 74 | 2005 |
| Mutations in KCTD1 cause scalp-ear-nipple syndrome AG Marneros, AE Beck, EH Turner, MJ McMillin, MJ Edwards, M Field, ... The American Journal of Human Genetics 92 (4), 621-626, 2013 | 68 | 2013 |
| Premature arthritis is a distinct type II collagen phenotype P Kannu, JF Bateman, S Randle, S Cowie, D du Sart, S McGrath, ... Arthritis & Rheumatism 62 (5), 1421-1430, 2010 | 68 | 2010 |
| Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients T Roscioli, G Elakis, TC Cox, DJ Moon, H Venselaar, AM Turner, T Le, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2013 | 62 | 2013 |
| Evaluation of satisfaction of parents with the use of videoconferencing for a pediatric genetic consultation B Hopper, M Buckman, M Edwards Twin Research and Human Genetics 14 (4), 343-346, 2011 | 62 | 2011 |
