Senior Scientist, Lawrence Berkeley National Laboratory
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SFARI Funded Publications
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.
Shin T., Song J.H.T., Kosicki M., Kenny C., Beck S.G., Kelley L., Qian X., Bonacina J., Papandile F., Antony I., Gonzalez D., Scotellaro J., Bushinsky E.M., Andersen R.E., Maury E., Pennacchio L., Doan R., Walsh C.
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi E.M., Hayeck T.J., Cheng Z., Chatterjee S., Mannion B.J., Byrska-Bishop M., Willems M., Pinson L., Redon S., Benech C., Uguen K., Audebert-Bellanger S., Le Marechal C., Férec C., Efthymiou S., Rahman F., Maqbool S., Maroofian R., Houlden H., Musunuri R., Narzisi G., Abhyankar A., Hunter R.D., Akiyama J., Fries L.E., Ng J.K., Mehinovic E., Stong N., Allen A.S., Dickel D.E., Bernier R., Gorkin D.U., Pennacchio L., Zody M.C., Turner T.
Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.
Haigh J.L., Adhikari A., Copping N.A., Stradleigh T., Wade A.A., Catta-Preta R., Su-Feher L., Zdilar I., Morse S., Fenton T.A., Nguyen A., Quintero D., Agezew S., Sramek M., Kreun E.J., Carter J., Gompers A., Lambert J., Canales C.P., Pennacchio L., Visel A., Dickel D.E., Silverman J.L., Nord A.