SFARI | SFARI Funded Publications

Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.

Einson J., Glinos D., Boerwinkle E., Castaldi P., Darbar D., de Andrade M., Ellinor P., Fornage M., Gabriel S., Germer S., Gibbs R., Hersh C.P., Johnsen J., Pstay B., Vasan R.S., Rich S.S., Rienstra M., Rotter J.I., Saferali A., Shoemaker M.B., Silverman E., Smith A.V., NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, Mohammadi P., Castel S.E., Iossifov I., Lappalainen T.

FOXP1 orchestrates neurogenesis in human cortical basal radial glial cells.

Park S.H.E, Kulkarni A., Konopka G.

Distinct roles of putative excitatory and inhibitory neurons in the macaque inferior temporal cortex in core object recognition behavior.

Sanghavi S., Kar K.

The Autism Symptom Dimensions Questionnaire: Development and psychometric evaluation of a new, open-source measure of autism symptomatology.

Frazier T., Dimitropoulos A., Abbeduto L., Armstrong-Brine M., Kralovic S., Shih A., Hardan A., Youngstrom E.A., Uljarević M., Quadrant Biosciences - As You Are Team.

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.

Valencia A.M., Sankar A., van der Sluijs P.J., Satterstrom F.K., Fu J., Talkowski M., Vergano S.A.S., Santen G.W.E., Kadoch C.

The contributions of rare inherited and polygenic risk to ASD in multiplex families.

Cirnigliaro M., Chang T.S., Arteaga A.S., Pérez-Cano L., Ruzzo E.K., Gordon A., Bicks L.K., Jung J.-Y., Lowe J.K., Wall D., Geschwind D.

VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.

Zhong G., Choi Y.A., Shen Y.

Rhesus macaque social functioning is paternally, but not maternally, inherited by sons: Potential implications for autism.

Garner J.P., Talbot C.F., Del Rosso L.A., McCowan B., Kanthaswamy S., Haig D., Capitanio J.P., Parker K.

The organisation and turnover of synaptic proteins within molecular supercomplexes.

Morris K., Bulovaite E., Kaizuka T., Adams C., Komiyama N., Grant S.G.N., Horrocks M.H.

Reprogramming method does not impact the neuronal differentiation potential of 16p11.2 deletion patient iPSCs.

Wells M.F., Guss E.J., Zhou H., Sun B., Martinez H., NYSCF Global Stem Cell Array Team, Akopian V., Noggle S., Paull D., Moore J., Sheldon M., Sommer J., Benedetti M., Meissner A., Eggan K. C.