Funded Publications

Below is a list of publications and preprints generated with SFARI support. The list includes papers from SFARI-funded investigators as well as from researchers who used genetic/phenotypic data or biospecimens from the Simons Simplex Collection (SSC) or Simons Variation in Individuals Project (Simons VIP).

917 Publications

Paternally inherited cis-regulatory structural variants are associated with autism.

Brandler W.M., Antaki D., Gujral M., Kleiber M.L., Whitney J., Maile M.S., Hong O., Chapman T.R., Tan S., Tandon P., Pang T., Tang S.C., Vaux K.K., Yang Y., Harrington E., Juul S., Turner D.J., Thiruvahindrapuram B., Kaur G., Wang Z., Kingsmore S.F., Gleeson J., Bisson D., Kakaradov B., Telenti A., Venter J.C., Corominas R., Toma C., Cormand B., Rueda I., Guijarro S., Messer K.S., Nievergelt C.M., Arranz M.J., Courchesne E., Pierce K., Muotri A., Iakoucheva L., Hervas A., Scherer S.W., Corsello C., Sebat J.

Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders.

Pizzo L., Jensen M., Polyak A., Rosenfeld J.A., Mannik K., Krishnan A., McCready E., Pichon O., Le Caignec C., Van Dijck A., Pope K., Voorhoeve E., Yoon J., Stankiewicz P., Wai Cheung S., Pazuchanics D., Huber E., Kumar V., Kember R., Mari F., Curró A., Castiglia L., Galesi O., Avola E., Mattina T., Fichera M., Mandarà L., Vincent M., Nizon M., Mercier S., Bénéteau C., Blesson S., Martin-Coignard D., Mosca-Boidron A-L., Caberg J.H., Bucan M., Zeesman S., Nowaczyk M.J.M., Lefebvre M., Faivre L., Callier P., Skinner C., Keren B., Perrine C., Prontera P., Marle N., Renieri A., Reymond A., Kooy F.R., Isidor B., Schwartz B., Romano C., Sistermans E., Amor D.J., Andrieux J., Girirajan S.

Research Highlights
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