| 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 | 1403 | 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 | 319 | 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 | 176 | 2009 |
| 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 | 161 | 2016 |
| 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 | 134 | 2011 |
| 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 | 123 | 2014 |
| 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 | 96 | 2018 |
| 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 | 93 | 2016 |
| Speech and language: Translating the genome P Deriziotis, SE Fisher Trends in Genetics 33 (9), 642-656, 2017 | 81 | 2017 |
| Neurogenomics of speech and language disorders: the road ahead P Deriziotis, SE Fisher Genome Biology 14, 1-12, 2013 | 71 | 2013 |
| 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 | 64 | 2018 |
| 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 | 60 | 2015 |
| 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 | 51 | 2012 |
| Prions and the proteasome P Deriziotis, SJ Tabrizi Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1782 (12 …, 2008 | 50 | 2008 |
| 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 | 47 | 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 | 46 | 2017 |
| 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 | 42 | 2019 |
| Insights into the genetic foundations of human communication SA Graham, P Deriziotis, SE Fisher Neuropsychology Review 25, 3-26, 2015 | 35 | 2015 |
| 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 | 35 | 2014 |
| 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 | 34 | 2017 |
Simon E. FisherDirector, Max Planck Institute for PsycholinguisticsAdresse e-mail validée de mpi.nl
