フォロー
George A. Tanteles
George A. Tanteles
Consultant in Clinical Genetics
確認したメール アドレス: cing.ac.cy
タイトル
引用先
引用先
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
E Collaborative, YCA Feng, DP Howrigan, LE Abbott, K Tashman, ...
bioRxiv, 525683, 2019
274*2019
A cross-disorder dosage sensitivity map of the human genome
RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ...
Cell 185 (16), 3041-3055. e25, 2022
2472022
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability
GOLD
Human Mutation 36 (12), 1197-204, 2015
2072015
A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity
GC Barnett, D Thompson, L Fachal, S Kerns, C Talbot, RM Elliott, ...
Radiotherapy and Oncology 111 (2), 178-185, 2014
1872014
Polygenic burden in focal and generalized epilepsies
C Leu, R Stevelink, AW Smith, SB Goleva, M Kanai, L Ferguson, ...
Brain, 2019
1322019
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ...
Science translational medicine 12 (556), eaay6848, 2020
1252020
A replicated association between polymorphisms near TNFα and risk for adverse reactions to radiotherapy
CJ Talbot, GA Tanteles, GC Barnett, NG Burnet, J Chang-Claude, ...
British journal of cancer 107 (4), 748-753, 2012
932012
Standardized total average toxicity score: a scale-and grade-independent measure of late radiotherapy toxicity to facilitate pooling of data from different studies
GC Barnett, CML West, CE Coles, PDP Pharoah, CJ Talbot, RM Elliott, ...
International Journal of Radiation Oncology* Biology* Physics 82 (3), 1065-1074, 2012
892012
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
Nature genetics 55 (9), 1471-1482, 2023
762023
Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier …
VM Nellen RG, Steijlen PM, van Steensel MA
Human Mutation 38 (4), 343-356, 2017
722017
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
642020
Accurate breakpoint mapping in apparently balanced translocation families with discordant phenotypes using whole genome mate-pair sequencing
C Aristidou, C Koufaris, A Theodosiou, M Bak, MM Mehrjouy, F Behjati, ...
PLoS One 12 (1), e0169935, 2017
472017
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ...
The American Journal of Human Genetics 108 (6), 965-982, 2021
462021
7q11. 23 Microduplication: a recognizable phenotype
A Dixit, S McKee, S Mansour, SG Mehta, GA Tanteles, V Anastasiadou, ...
Clinical genetics 83 (2), 155-161, 2013
452013
Classification and aetiology of birth defects
GA Tanteles, M Suri
Paediatrics and Child Health 17 (6), 233-243, 2007
362007
GnRH deficient patients with congenital hypogonadotropic hypogonadism: novel genetic findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A genes in a case series and review …
V Neocleous, P Fanis, M Toumba, GA Tanteles, M Schiza, F Cinarli, ...
Frontiers in endocrinology 11, 626, 2020
352020
A novel HCFC1 variant in male siblings with intellectual disability and microcephaly in the absence of cobalamin disorder
C Koufaris, A Alexandrou, GA Tanteles, V Anastasiadou, C Sismani
Biomedical Reports 4 (2), 215-218, 2016
322016
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
L Montanucci, D Lewis-Smith, RL Collins, LM Niestroj, S Parthasarathy, ...
Nature communications 14 (1), 4392, 2023
302023
The role of common genetic variation in presumed monogenic epilepsies
C Campbell, C Leu, YCA Feng, S Wolking, C Moreau, C Ellis, S Ganesan, ...
EBioMedicine 81, 2022
292022
European lipodystrophy registry: background and structure
J Von Schnurbein, C Adams, B Akinci, G Ceccarini, MR D’apice, ...
Orphanet journal of rare diseases 15, 1-11, 2020
292020
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