

Funded Projects
Copy number variation and pathogenic variant analyses of SPARK exomes
Awarded: 2020
Award Type: Director
Award Type: Director
Integrated copy number variant analysis of SPARK exomes
Awarded: 2018
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Award Type: Targeted: Genomic Analysis for Autism Risk Variants in SPARK
Structural variation and the genetic architecture of autism
Awarded: 2015
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants
SFARI Funded Publications
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin Y., Wang T., Gillentine M.A., Scott T.M., Berry A.M., Azamian M.S., Genetti C., Agrawal P.B., Picker J., Wojcik M.H., Delgado M.R., Lynch S.A., Scherer S. W., Howe J.L., Bacino C.A., DiTroia S., VanNoy G.E., O'Donnell-Luria A., Lalani S.R., Graf W.D., Rosenfeld J.A., Eichler E., Earl R.K., Scott D.A.
De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.
Ebstein F., Küry S., Most V., Rosenfelt C., Scott-Boyer M.-P., van Woerden G.M., Besnard T., Papendorf J.J., Studencka-Turski M., Wang T., Hsieh T.-C., Golnik R., Baldridge D., Forster C., de Konink C., Teurlings S.M.W., Vignard V., van Jaarsveld R.H., Ades L., Cogné B., Mignot C., Deb W., Jongmans M.C.J., Cole F.S., van den Boogaard M.-J.H., Wambach J.A., Wegner D.J., Yang S., Hannig V., Brault J.A., Zadeh N., Bennetts B., Keren B., Gélineau A.-C., Powis Z., Towne M., Bachman K., Seeley A., Beck A.E., Morrison J., Westman R., Averill K., Brunet T., Haasters J., Carter M.T., Osmond M., Wheeler P.G., Forzano F., Mohammed S., Trakadis Y., Accogli A., Harrison R., Deciphering Developmental Disorders Study, Care4Rare Canada Consortium, Rondeau S., Baujat G., Barcia G., Feichtinger R.G., Mayr J.A., Preisel M., Laumonnier F., Knaus A., Isidor B., Krawitz P., Völker U., Hammer E., Droit A., Eichler E., Elgersma Y., Hildebrand P.W., Bolduc F., Krüeger E., Bézieau S.
Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes.
Zhou X., Feliciano P., Wang T., Astrovskaya I., Shu C., Hall J.B., Obiajulu J.U., Wright J., Murali S., Xu S.X., Brueggeman L., Thomas T.R., Marchenko O., Fleisch C., Barns S.D., Green Snyder L., Han B., Chang T.S., Turner T.N., Harvey W., Nishida A., O'Roak B., Geschwind D., the SPARK Consortium, Michaelson J., Volfovsky N., Eichler E., Shen Y., Chung W.