@article{1c1b0334bb5f4093b689210e83b7b3f6,
title = "Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila",
keywords = "SENSITIVE PARALYTIC MUTANTS, AUTISM SPECTRUM DISORDERS, UBIQUITIN LIGASE COMPLEX, DE-NOVO MUTATIONS, INTELLECTUAL DISABILITY, MENTAL-RETARDATION, SPINE MORPHOGENESIS, TUMOR-SUPPRESSOR, BREAST-CANCER, RHO-GTPASES",
author = "Jonas Straub and Konrad, {Enrico D. H.} and Johanna Gruner and Annick Toutain and Bok, {Levinus A.} and Cho, {Megan T.} and Crawford, {Heather P.} and Holly Dubbs and Ganka Douglas and Rebekah Jobling and Diana Johnson and Bryan Krock and Mikati, {Mohamad A.} and Addie Nesbitt and Joost Nicolai and Meredith Phillips and Annapurna Poduri and Ortiz-Gonzalez, {Xilma R.} and Zoe Powis and Avni Santani and Lacey Smith and Stegmann, {Alexander P. A.} and Constance Stumpel and Maaike Vreeburg and Anna Fliedner and Anne Gregor and Heinrich Sticht and Christiane Zweier and {Deciphering Dev Disorders Study}",
year = "2018",
month = jan,
day = "4",
doi = "10.1016/j.ajhg.2017.11.008",
language = "English",
volume = "102",
pages = "44--57",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",
}