David John Amor
David John Amor
Verified email at mcri.edu.au
Cited by
Cited by
Genome-wide association study identifies novel breast cancer susceptibility loci
DF Easton, KA Pooley, AM Dunning, PDP Pharoah, D Thompson, ...
Nature 447 (7148), 1087-1093, 2007
Chromosome abnormalities and genetic counseling
RJMK Gardner, GR Sutherland, LG Shaffer
OUP USA, 2011
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
DC Guo, H Pannu, V Tran-Fadulu, CL Papke, KY Robert, N Avidan, ...
Nature genetics 39 (12), 1488-1493, 2007
Beckwith-Wiedemann syndrome and IVF: a case-control study
J Halliday, K Oke, S Breheny, E Algar, DJ Amor
The American Journal of Human Genetics 75 (3), 526-528, 2004
Neocentromeres: role in human disease, evolution, and centromere study
DJ Amor, KHA Choo
The American Journal of Human Genetics 71 (4), 695-714, 2002
Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals
EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ...
European journal of medical genetics 52 (2-3), 77-87, 2009
A review of known imprinting syndromes and their association with assisted reproduction technologies
DJ Amor, J Halliday
Human Reproduction 23 (12), 2826-2834, 2008
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Z Stark, TY Tan, B Chong, GR Brett, P Yap, M Walsh, A Yeung, H Peters, ...
Genetics in Medicine 18 (11), 1090-1096, 2016
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
EK Bancroft, EC Page, E Castro, H Lilja, A Vickers, D Sjoberg, M Assel, ...
European urology 66 (3), 489-499, 2014
Human centromere repositioning “in progress”
DJ Amor, K Bentley, J Ryan, J Perry, L Wong, H Slater, KHA Choo
Proceedings of the National Academy of Sciences 101 (17), 6542-6547, 2004
Building the centromere: from foundation proteins to 3D organization
DJ Amor, P Kalitsis, H Sumer, KHA Choo
Trends in cell biology 14 (7), 359-368, 2004
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
N Revencu, LM Boon, A Mendola, MR Cordisco, J Dubois, P Clapuyt, ...
Human mutation 34 (12), 1632-1641, 2013
Diagnostic impact and cost-effectiveness of whole-exome sequencing for ambulant children with suspected monogenic conditions
TY Tan, OJ Dillon, Z Stark, D Schofield, K Alam, R Shrestha, B Chong, ...
JAMA pediatrics 171 (9), 855-862, 2017
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
GR Wilson, JCH Sim, C McLean, M Giannandrea, CA Galea, JR Riseley, ...
The American Journal of Human Genetics 95 (6), 729-735, 2014
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
R McFarland, DM Kirby, KJ Fowler, A Ohtake, MT Ryan, DJ Amor, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies
AM Jaques, DJ Amor, HWG Baker, DL Healy, OC Ukoumunne, S Breheny, ...
Fertility and sterility 94 (7), 2674-2679, 2010
Dominant missense mutations in ABCC9 cause Cantu syndrome
M Harakalova, JJT van Harssel, PA Terhal, S van Lieshout, K Duran, ...
Nature genetics 44 (7), 793-796, 2012
DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism
J Dong, D Amor, MJ Aldred, TT Gu, M Escamilla, M MacDougall
American Journal of Medical Genetics Part A 133 (2), 138-141, 2005
Tumour surveillance in Beckwith–Wiedemann syndrome and hemihyperplasia: a critical review of the evidence and suggested guidelines for local practice
TY Tan, DJ Amor
Journal of paediatrics and child health 42 (9), 486-490, 2006
Further molecular and clinical delineation of co-locating 17p13. 3 microdeletions and microduplications that show distinctive phenotypes
DL Bruno, BM Anderlid, A Lindstrand, C van Ravenswaaij-Arts, ...
Journal of Medical Genetics 47 (5), 299-311, 2010
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