Pelagia Deriziotis
Pelagia Deriziotis
Group Leader Gene Editing at Oxford Genetics
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
12642011
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
2902007
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
1602009
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
1082011
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
1022016
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
932014
Neurogenomics of speech and language disorders: the road ahead
P Deriziotis, SE Fisher
Genome Biology 14 (4), 1-12, 2013
662013
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
602016
Speech and language: Translating the genome
P Deriziotis, SE Fisher
Trends in Genetics 33 (9), 642-656, 2017
492017
Prions and the proteasome
P Deriziotis, SJ Tabrizi
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1782 (12 …, 2008
472008
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
452012
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
442018
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
432015
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
422018
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
382016
Insights into the genetic foundations of human communication
SA Graham, P Deriziotis, SE Fisher
Neuropsychology Review 25 (1), 3-26, 2015
282015
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
252014
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
232016
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
212017
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
202017
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