Litcius/Paper detail

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Anna Fliedner, Philipp Kirchner, Antje Wiesener, Irma van de Beek, Quinten Waisfisz, Mieke M. van Haelst, Daryl A. Scott, Seema R. Lalani, Jill A. Rosenfeld, Mahshid S. Azamian, Fan Xia, Marina Dutra‐Clarke, Julián A. Martínez-Agosto, Hane Lee, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Joshua L. Deignan, Sung‐Hae Kang, Valerie A. Arboleda, T. Niroshi Senaratne, Naghmeh Dorrani, Marina Dutra‐Clarke, Jessica Kianmahd, Franceska L. Hinkamp, Ahna M. Neustadt, Julian A. Martinez-Agosto, Brent L. Fogel, Fabiola Quintero‐Rivera, Grace Noh, Natalie Lippa, Anna Alkelai, Vimla S. Aggarwal, Katherine Agre, Ralitza H. Gavrilova, Ghayda Mirzaa, Rachel Straussberg, Rony Cohen, Brooke Horist, Vidya Krishnamurthy, Kirsty McWalter, Jane Juusola, Laura Davis‐Keppen, Lisa Ohden, Marjon van Slegtenhorst, de Man, Arif B. Ekici, Anne Gregor, Ingrid M.B.H. van de Laar, Christiane Zweier

2020The American Journal of Human Genetics25 citationsDOIOpen Access PDF

Topics & Concepts

BiologyGeneticsRNA polymerase IIRNA splicingGene knockdownMessenger RNAExome sequencingGeneDrosophila melanogasterTranscription (linguistics)PhenotypeGene expressionRNAPromoterLinguisticsPhilosophyRNA Research and SplicingRNA modifications and cancerGenomics and Chromatin Dynamics