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Pelagia Deriziotis
Pelagia Deriziotis
Head of Technical Operations at OXGENE
Verified email at oxgene.com
Title
Cited by
Cited by
Year
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
BJ O'Roak, P Deriziotis, C Lee, L Vives, JJ Schwartz, S Girirajan, ...
Nature genetics 43 (6), 585-589, 2011
14022011
Disease-associated prion protein oligomers inhibit the 26S proteasome
M Kristiansen, P Deriziotis, DE Dimcheff, GS Jackson, H Ovaa, ...
Molecular cell 26 (2), 175-188, 2007
3182007
Genetic risk factors for variant Creutzfeldt–Jakob disease: a genome-wide association study
S Mead, M Poulter, J Uphill, J Beck, J Whitfield, TEF Webb, T Campbell, ...
The Lancet Neurology 8 (1), 57-66, 2009
1752009
BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription
C Dias, SB Estruch, SA Graham, J McRae, SJ Sawiak, JA Hurst, SK Joss, ...
The American Journal of Human Genetics 99 (2), 253-274, 2016
1602016
Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry
P Deriziotis, R André, DM Smith, R Goold, KJ Kinghorn, M Kristiansen, ...
The EMBO journal 30 (15), 3065-3077, 2011
1332011
De novo TBR1 mutations in sporadic autism disrupt protein functions
P Deriziotis, BJ O’Roak, SA Graham, SB Estruch, D Dimitropoulou, ...
Nature communications 5 (1), 4954, 2014
1222014
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
L Snijders Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, ...
Nature communications 9 (1), 4619, 2018
952018
Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder
E Sollis, SA Graham, A Vino, H Froehlich, M Vreeburg, D Dimitropoulou, ...
Human molecular genetics 25 (3), 546-557, 2016
932016
Speech and language: Translating the genome
P Deriziotis, SE Fisher
Trends in Genetics 33 (9), 642-656, 2017
812017
Neurogenomics of speech and language disorders: the road ahead
P Deriziotis, SE Fisher
Genome Biology 14, 1-12, 2013
712013
Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders
SB Estruch, SA Graham, M Quevedo, A Vino, DHW Dekkers, P Deriziotis, ...
Human molecular genetics 27 (7), 1212-1227, 2018
642018
A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment
R Lozano, A Vino, C Lozano, SE Fisher, P Deriziotis
European journal of human genetics 23 (12), 1702-1707, 2015
602015
The DISC1 promoter: characterization and regulation by FOXP2
RM Walker, AE Hill, AC Newman, G Hamilton, HS Torrance, SM Anderson, ...
Human molecular genetics 21 (13), 2862-2872, 2012
512012
Prions and the proteasome
P Deriziotis, SJ Tabrizi
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1782 (12 …, 2008
502008
The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers
SB Estruch, SA Graham, P Deriziotis, SE Fisher
Scientific reports 6 (1), 20911, 2016
472016
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
R Acuna-Hidalgo, P Deriziotis, M Steehouwer, C Gilissen, SA Graham, ...
PLoS genetics 13 (3), e1006683, 2017
452017
De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder
LS Blok, T Kleefstra, H Venselaar, S Maas, HY Kroes, AMA Lachmeijer, ...
The American Journal of Human Genetics 105 (2), 403-412, 2019
422019
Insights into the genetic foundations of human communication
SA Graham, P Deriziotis, SE Fisher
Neuropsychology Review 25, 3-26, 2015
352015
Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer
P Deriziotis, SA Graham, SB Estruch, SE Fisher
JoVE (Journal of Visualized Experiments), e51438, 2014
352014
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
E Sollis, P Deriziotis, H Saitsu, N Miyake, N Matsumoto, MJV Hoffer, ...
Human mutation 38 (11), 1542-1554, 2017
342017
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