Assistant in Neurology; Co-Director, Autism Spectrum Center, Boston Children’s Hospital
WebsiteFunded Projects
SFARI Funded Publications
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Steinman K.J., Spence S., Ramocki M.B., Proud M.B., Kessler S.K., Marco E.J., Green Snyder L., D'Angelo D., Chen Q., Chung W., Sherr E., Simons VIP Consortium.
Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Bernier R., Steinman K.J., Reilly B., Wallace A.S., Sherr E., Pojman N., Mefford H., Gerdts J., Earl R., Hanson E., Goin-Kochel R., Berry L., Kanne S., Green Snyder L., Spence S., Ramocki M.B., Evans D.W., Spiro J., Martin C. L., Ledbetter D., Chung W.
Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities.
D'Angelo D., Lebon S., Chen Q., Martin-Brevet S., Green Snyder L., Hippolyte L., Hanson E., Maillard A.M., Faucett W.A., Macé A., Pain A., Bernier R., Chawner S.J., David A., Andrieux J., Aylward E., Baujat G., Caldeira I., Conus P., Ferrari C., Forzano F., Gérard M., Goin-Kochel R., Grant E., Hunter J., Isidor B., Jacquette A., Jonch A.E., Keren B., Lacombe D., Le Caignec C., Martin C.L., Männik K., Metspalu A., Mignot C., Mukherjee P., Owen M.J., Passeggeri M., Rooryck-Thambo C., Rosenfeld J.A., Spence S., Steinman K.J., Tjernagel J., Van Haelst M., Shen Y., Draganski B., Sherr E., Ledbetter D., van den Bree M.B., Beckmann J.S., Spiro J., Reymond A., Jacquemont S., Chung W., Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, the 16p11, 2 European Consortium, and the Simons Variation in Individuals Project (VIP) Consortium.