SFARI | SFARI Funded Publications

De novo variant calling identifies cancer mutation profiles in the 1000 Genomes Project.

Ng J., Vats P., Fritz-Waters E., Sarkar S., Sams E.I., Padhi E.M., Payne Z.L., Leonard S., West M., Prince C., Trani L., Jansen M., Vacek G., Samadi M., Harkins T.T., Pohl C., Turner T.

De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.

Royer-Bertrand B., Gygax M.J., Cisarova K., Rosenfeld J.A., Bassetti J.A., Moldovan O., O’Heir E., Burrage L.C., Allen J., Emrick L.T., Eastman E., Kumps C., Abbas S., Van Winckel G., Undiagnosed Diseases Network, Chabane N., Zackai E.H., Lebon S., Keena B., Bhoj E.J., Umair M., Li D., Donald K., Superti-Furga A.

Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.

Girskis K.M., Stergachis A.B., DeGennaro E.M., Doan R., Qian X., Johnson M.B., Wang P.P., Sejourne G.M., Nagy M.A., Pollina E.A., Sousa A. M. M., Shin T., Kenny C.J., Scotellaro J.L., Debo B.M., Gonzalez D.M., Rento L.M., Yeh R.C., Song J.H.T., Beaudin M., Fan J., Kharchenko P.V., Sestan N., Greenberg M., Walsh C.

mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity.

Pagani M., Barsotti N., Bertero A., Trakoshis S., Ulysse L., Locarno A., Miseviciute I., De Felice A., Canella C., Supekar K., Galbusera A., Menon V., Tonini R., Deco G., Lombardo M., Pasqualetti M., Gozzi A.

Altered inflammatory response in FMRP-deficient microglia.

Parrott J.M., Oster T., Lee H. Y.

Customized de novo mutation detection for any variant calling pipeline: SynthDNM.

Lian A., Guevara J., Xia K., Sebat J.

Oligogenic combinations of rare variants influence specific phenotypes in complex disorders.

Pounraja V.K., Girirajan S.

Effects of early geometric confinement on the transcriptomic profile of human cerebral organoids.

Sen D., Voulgaropoulos A., Keung A.

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene.

Qiao L., Xu L., Yu L., Wynn J., Hernan R., Zhou X., Farkouh-Karoleski C., Krishnan U.S., Khlevner J., De A., Zygmunt A., Crombleholme T., Lim F.-Y., Needelman H., Cusick R.A., Mychaliska G.B., Warner B.W., Wagner A.J., Danko M.E., Chung D., Potoka D., Kosiński P., McCulley D.J., Elfiky M., Azarow K., Fialkowski E., Schindel D., Soffer S.Z., Lyon J.B., Zalieckas J.M., Vardarajan B.N., Aspelund G., Duron V.P., High F.A., Sun X., Donahoe P.K., Shen Y., Chung W.

How rare and common risk variation jointly affect liability for autism spectrum disorder.

Klei L., McClain L.L., Mahjani B., Panayidou K., Rubeis S.D., Grahnat A.-C.S., Karlsson G., Lu Y., Melhem N., Xu X., Reichenberg A., Sandin S., Hultman C.M., Buxbaum J., Roeder K., Devlin B.