Timothy Yu, M.D., Ph.D.

Associate Professor, Harvard Medical School

SFARI Investigator Website

Timothy Yu is an M.D. and Ph.D. neurogeneticist and research team lead in the Division of Genetics and Genomics at Boston Children’s Hospital, associate professor at Harvard Medical School and associate member of the Broad Institute of MIT and Harvard.

Yu’s group works at the intersection of human genetics, neurobiology and genomic medicine, with projects over the years that include gene discovery for autism spectrum disorders, translational deployment of genome sequencing to the clinic and intensive care unit and the creation of scientific, clinical and regulatory pathways for individualized genomic medicines using antisense oligonucleotides.

Funded Projects

Piloting gene- and mutation-specific antisense oligonucleotide therapies for autism

Awarded: 2022
Award Type: Targeted: Genomics of ASD: Pathways to Genetic Therapies

Contributions of rare biallelic recessive mutations in autism

Awarded: 2017
Award Type: Pilot

SFARI Funded Publications

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Harris H.K., Nakayama T., Lai J., Zhao B., Argyrou N., Gubbels C.S., Soucy A., Genetti C.A., Suslovitch V., Rodan L.H., Tiller G.E., Lesca G., Gripp K.W., Asadollahi R., Hamosh A., Applegate C.D., Turnpenny P.D., Simon M.E.H., Volker-Touw C.M.L., van Gassen K.L.I., van Binsbergen E., Pfundt R., Gardeitchik T., de Vries B.B.A., Immken L.L., Buchanan C., Willing M., Toler T.L., Fassi E., Baker L., Vansenne F., Wang X., Ambrus J.L., Jr., Fannemel M., Posey J.E., Agolini E., Novelli A., Rauch A., Boonsawat P., Fagerberg C.R., Larsen M.J., Kibaek M., Labalme A., Poisson A., Payne K.K., Walsh L.E., Aldinger K.A., Balciuniene J., Skraban C., Gray C., Murrell J., Bupp C.P., Pascolini G., Grammatico P., Broly M., Küry S., Nizon M., Rasool I.G., Zahoor M.Y., Kraus C., Reis A., Iqbal M., Uguen K., Audebert-Bellanger S., Ferec C., Redon S., Baker J., Wu Y., Zampino G., Syrbe S., Brosse I., Abou Jamra R., Dobyns W.B., Cohen L.L., Blomhoff A., Mignot C., Keren B., Courtin T., Agrawal P.B., Beggs A., Yu T.

Homozygous deletions implicate non-coding epigenetic marks in autism spectrum disorder. Schmitz-Abe K., Sanchez-Schmitz G., Doan R., Hill S.R., Chahrour M.H., Metha B.K., Servattalab S., Ataman B., Nam A.-T. N, Morrow E., Greenberg M., Yu T., Walsh C., Markianos K.

Recessive gene disruptions in autism spectrum disorder. Doan R., Lim E.T., De Rubeis S., Betancur C., Cutler D.J., Chiocchetti A.G., Overman L.M., Soucy A., Goetze S., Autism Sequencing Consortium, Freitag C.M., Daly M., Walsh C., Buxbaum J., Yu T.

Research Highlight