|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