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Sébastien KÜRY
Sébastien KÜRY
在 chu-nantes.fr 的电子邮件经过验证
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Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
BW Zanke, CMT Greenwood, J Rangrej, R Kustra, A Tenesa, ...
Nature genetics 39 (8), 989-994, 2007
8252007
Identification of SLC39A4, a gene involved in acrodermatitis enteropathica
S Küry, B Dréno, S Bézieau, S Giraudet, M Kharfi, R Kamoun, JP Moisan
Nature genetics 31 (3), 239-240, 2002
6702002
Rare and low-frequency coding variants alter human adult height
E Marouli, M Graff, C Medina-Gomez, KS Lo, AR Wood, TR Kjaer, RS Fine, ...
Nature 542 (7640), 186-190, 2017
6552017
Discovery of common and rare genetic risk variants for colorectal cancer
JR Huyghe, SA Bien, TA Harrison, HM Kang, S Chen, SL Schmit, ...
Nature genetics 51 (1), 76-87, 2019
4542019
Identification of genetic susceptibility loci for colorectal tumors in a genome-wide meta-analysis
U Peters, S Jiao, FR Schumacher, CM Hutter, AK Aragaki, JA Baron, ...
Gastroenterology 144 (4), 799-807. e24, 2013
3662013
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans
A Grall, E Guaguère, S Planchais, S Grond, E Bourrat, I Hausser, C Hitte, ...
Nature genetics 44 (2), 140-147, 2012
2812012
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk
B Zhang, WH Jia, K Matsuda, SS Kweon, K Matsuo, YB Xiang, A Shin, ...
Nature genetics 46 (6), 533-542, 2014
2572014
Meta-analysis of new genome-wide association studies of colorectal cancer risk
U Peters, CM Hutter, L Hsu, FR Schumacher, DV Conti, CS Carlson, ...
Human genetics 131, 217-234, 2012
2462012
Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer
WH Jia, B Zhang, K Matsuo, A Shin, YB Xiang, SH Jee, DH Kim, Z Ren, ...
Nature genetics 45 (2), 191-196, 2013
2322013
Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9, 1-15, 2017
2312017
Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8
KM Boycott, CL Beaulieu, KD Kernohan, OH Gebril, A Mhanni, ...
The American Journal of Human Genetics 97 (6), 886-893, 2015
2152015
A novel zinc-regulated human zinc transporter, hZTL1, is localized to the enterocyte apical membrane
RA Cragg, GR Christie, SR Phillips, RM Russi, S Kury, JC Mathers, ...
Journal of Biological Chemistry 277 (25), 22789-22797, 2002
1862002
Genome-wide association study of colorectal cancer identifies six new susceptibility loci
FR Schumacher, SL Schmit, S Jiao, CK Edlund, H Wang, B Zhang, L Hsu, ...
Nature communications 6 (1), 7138, 2015
1802015
Characterization of gene–environment interactions for colorectal cancer susceptibility loci
CM Hutter, J Chang-Claude, ML Slattery, BM Pflugeisen, Y Lin, D Duggan, ...
Cancer research 72 (8), 2036-2044, 2012
1772012
An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica
S Schmitt, S Küry, M Giraud, B Dréno, M Kharfi, S Bézieau
Human mutation 30 (6), 926-933, 2009
1632009
Novel common genetic susceptibility loci for colorectal cancer
SL Schmit, CK Edlund, FR Schumacher, J Gong, TA Harrison, JR Huyghe, ...
JNCI: Journal of the National Cancer Institute 111 (2), 146-157, 2019
1612019
A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants
E Theodoratou, H Campbell, A Tenesa, R Houlston, E Webb, S Lubbe, ...
British journal of cancer 103 (12), 1875-1884, 2010
1542010
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ...
Neuron 106 (3), 404-420. e8, 2020
1522020
Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome
MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ...
The American Journal of Human Genetics 102 (6), 1126-1142, 2018
1522018
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1522017
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