Pelagia Deriziotis
Pelagia Deriziotis
Group Leader Gene Editing at Oxford Genetics
Verified email at
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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
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
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
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
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
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), 1-12, 2014
Neurogenomics of speech and language disorders: the road ahead
P Deriziotis, SE Fisher
Genome Biology 14 (4), 1-12, 2013
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
Speech and language: Translating the genome
P Deriziotis, SE Fisher
Trends in Genetics 33 (9), 642-656, 2017
Prions and the proteasome
P Deriziotis, SJ Tabrizi
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1782 (12 …, 2008
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language
LS Blok, J Rousseau, J Twist, S Ehresmann, M Takaku, H Venselaar, ...
Nature communications 9 (1), 1-12, 2018
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
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
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
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), 1-17, 2016
Insights into the genetic foundations of human communication
SA Graham, P Deriziotis, SE Fisher
Neuropsychology Review 25 (1), 3-26, 2015
Investigating protein-protein interactions in live cells using bioluminescence resonance energy transfer
P Deriziotis, SA Graham, SB Estruch, SE Fisher
Journal of visualized experiments: JoVE, 2014
Functional characterization of rare FOXP2 variants in neurodevelopmental disorder
SB Estruch, SA Graham, SM Chinnappa, P Deriziotis, SE Fisher
Journal of neurodevelopmental disorders 8 (1), 1-19, 2016
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
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
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