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), Simons Searchlight, Simons Foundation Powering Autism Research for Knowledge (SPARK), the Autism Inpatient Collection or Autism BrainNet.

2082 Articles

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.

PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.

Barak T., Ristori E., Ercan-Sencicek A.G., Miyagishima D.F., Nelson-Williams C., Dong W., Jin S.C., Prendergast A., Armero W., Henegariu O., Erson-Omay E.Z., Harmancı A.S., Guy M., Gültekin B., Kilic D., Rai D.K., Goc N., Aguilera S.M., Gülez B., Altinok S., Ozcan K., Yarman Y., Coskun S., Sempou E., Deniz E., Hintzen J., Cox A., Fomchenko E., Jung S.W., Ozturk A.K., Louvi A., Bilgüvar K., Connolly E.S. Jr., Khokha M.K., Kahle K., Yasuno K., Lifton R.P., Mishra-Gorur K., Nicoli S., Günel M.

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