David John Amor
David John Amor
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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
Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections
DC Guo, H Pannu, V Tran-Fadulu, CL Papke, RK Yu, 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
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
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
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
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
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
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
Metalloprotease SPRTN/DVC1 orchestrates replication-coupled DNA-protein crosslink repair
B Vaz, M Popovic, JA Newman, J Fielden, H Aitkenhead, S Halder, ...
Molecular cell 64 (4), 704-719, 2016
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
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
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
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
D Lessel, B Vaz, S Halder, PJ Lockhart, I Marinovic-Terzic, ...
Nature genetics 46 (11), 1239-1244, 2014
Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling
M Amyere, N Revencu, R Helaers, E Pairet, E Baselga, M Cordisco, ...
Circulation 136 (11), 1037-1048, 2017
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
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