Pelagia Derizioti

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Cristina Dias, Sara B. Estruch, Sarah A. Graham et al. · The American Journal of Human Genetics · 2016 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Identification and functional characterization of<i>de novo FOXP1</i>variants provides novel insights into the etiology of neurodevelopmental disorder

Elliot Sollis, Sarah A. Graham, Arianna Vino et al. · Human Molecular Genetics · 2015 · 100 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Rocío Acuña‐Hidalgo, Pelagia Derizioti, Marloes Steehouwer et al. · PLoS Genetics · 2017 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Proteomic analysis of FOXP proteins reveals interactions between cortical transcription factors associated with neurodevelopmental disorders

Sara B. Estruch, Sarah A. Graham, Martí Quevedo et al. · Human Molecular Genetics · 2018 · 67 citations · Full text

Life Sciences, Developmental Biology, Molecular Biology +17