Funded Projects
SFARI Funded Publications
A cross-disorder dosage sensitivity map of the human genome.
Collins R.L., Glessner J.T., Porcu E., Lepamets M., Brandon R., Lauricella C., Han L., Morley T., Niestroj L.-M., Ulirsch J., Everett S., Howrigan D.P., Boone P.M., Fu J., Karczewski K.J., Kellaris G., Lowther C., Lucente D., Mohajeri K., Nõukas M., Nuttle X., Samocha K.E., Trinh M., Ullah F., Võsa U., Epi25 Consortium, Estonian Biobank Research Team, Hurles M., Aradhya S., Davis E.E., Finucane H., Gusella J., Janze A., Katsanis N., Matyakhina L., Neale B.M., Sanders D., Warren S., Hodge J.C., Lal D., Ruderfer D.M., Meck J., Mägi R., Esko T., Reymond A., Kutalik Z., Hakonarson H., Sunyaev S., Brand H., Talkowski M.
Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 copy number variations.
Cárdenas-de-la-Parra A., Martin-Brevet S., Moreau C., Rodriguez-Herreros B., Fonov V.S., Maillard A.M., Zürcher N.R., 16p11.2 European Consortium, Hadjikhani N., Beckmann J.S., Reymond A., Draganski B., Jacquemont S., Collins D.L.
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism individuals.
Giannuzzi G., Schmidt P.J., Porcu E., Willemin G., Munson K.M., Nuttle X., Earl R., Chrast J., Hoekzema K., Risso D., Männik K., De Nittis P., Baratz E.D., 16p11.2 Consortium., Herault Y., Gao X., Philpott C.C., Bernier R., Kutalik Z., Fleming M.D., Eichler E., Reymond A.