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Alexandros Onoufriadis
Alexandros Onoufriadis
Verified email at auth.gr
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Year
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
10722015
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
LC Tsoi, SL Spain, J Knight, E Ellinghaus, PE Stuart, F Capon, J Ding, ...
Nature genetics 44 (12), 1341-1348, 2012
10452012
Genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
A Strange, F Capon, CCA Spencer, J Knight, ME Weale, MH Allen, ...
Nature genetics 42 (11), 985, 2010
10142010
Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis
A Onoufriadis, MA Simpson, AE Pink, P Di Meglio, CH Smith, ...
The American Journal of Human Genetics 89 (3), 432-437, 2011
5552011
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
3992015
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ...
The American Journal of Human Genetics 91 (4), 672-684, 2012
3232012
DYX1C1 is required for axonemal dynein assembly and ciliary motility
A Tarkar, NT Loges, CE Slagle, R Francis, GW Dougherty, JV Tamayo, ...
Nature genetics 45 (9), 995-1003, 2013
3112013
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 11491, 2016
2412016
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ...
The American Journal of Human Genetics 92 (1), 88-98, 2013
2062013
Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
D Antony, A Becker‐Heck, MA Zariwala, M Schmidts, A Onoufriadis, ...
Human mutation 34 (3), 462-472, 2013
2012013
Rare variants in NR2F2 cause congenital heart defects in humans
S Al Turki, AK Manickaraj, CL Mercer, SS Gerety, MP Hitz, S Lindsay, ...
The American Journal of Human Genetics 94 (4), 574-585, 2014
1802014
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
P Ostergaard, MA Simpson, A Mendola, P Vasudevan, FC Connell, ...
The American Journal of Human Genetics 90 (2), 356-362, 2012
1782012
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation
R Hjeij, A Onoufriadis, CM Watson, CE Slagle, NT Klena, GW Dougherty, ...
The American Journal of Human Genetics 95 (3), 257-274, 2014
1772014
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ...
The American Journal of Human Genetics 93 (2), 346-356, 2013
1762013
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
Nature genetics 42 (11), 985-990, 2010
1462010
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
Nature communications 8 (1), 14279, 2017
1432017
Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype
P Ostergaard, MA Simpson, G Brice, S Mansour, FC Connell, ...
Journal of medical genetics 48 (4), 251-255, 2011
1162011
Whole-genome sequence-based analysis of thyroid function
PN Taylor, E Porcu, S Chew, PJ Campbell, M Traglia, SJ Brown, ...
Nature communications 6 (1), 5681, 2015
1112015
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects
KA Williamson, J Rainger, JAB Floyd, M Ansari, A Meynert, KV Aldridge, ...
The American Journal of Human Genetics 94 (2), 295-302, 2014
1042014
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
A Onoufriadis, A Shoemark, MM Munye, CT James, M Schmidts, M Patel, ...
Journal of medical genetics 51 (1), 61-67, 2014
1042014
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