De Novo Mutation in an Enhancer of EBF3 in simplex autism
Evin M. Padhi, Tristan J. Hayeck, Zhang Cheng, Sumantra Chatterjee, Brandon J. Mannion, Marta S. Byrska‐Bishop, Marjolaine Willems, Lucile Pinson, Sylvia Redon, Caroline Bénech, Kévin Uguen, Séverine Audebert‐Bellanger, Cédric Le Maréchal, Claude Férec, Stéphanie Efthymiou, , Tychele N. Turner
Whole-genome sequencing in thousands of families reveals variants relevant to simplex autism in a brain enhancer of the well-established neurodevelopmental disorder gene EBF3.
Human Genomics · Jul 13, 2021Peer-reviewedGenomics