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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex.
Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. Antaki D, et al. Among authors: gleeson jg. Nat Genet. 2022 Sep;54(9):1284-1292. doi: 10.1038/s41588-022-01064-5. Epub 2022 Jun 2. Nat Genet. 2022. PMID: 35654974 Free PMC article.
Association of common variants in the Joubert syndrome gene (AHI1) with autism.
Alvarez Retuerto AI, Cantor RM, Gleeson JG, Ustaszewska A, Schackwitz WS, Pennacchio LA, Geschwind DH. Alvarez Retuerto AI, et al. Among authors: gleeson jg. Hum Mol Genet. 2008 Dec 15;17(24):3887-96. doi: 10.1093/hmg/ddn291. Epub 2008 Sep 9. Hum Mol Genet. 2008. PMID: 18782849 Free PMC article.
The genetic landscape of autism spectrum disorders.
Rosti RO, Sadek AA, Vaux KK, Gleeson JG. Rosti RO, et al. Among authors: gleeson jg. Dev Med Child Neurol. 2014 Jan;56(1):12-8. doi: 10.1111/dmcn.12278. Epub 2013 Oct 1. Dev Med Child Neurol. 2014. PMID: 24116704 Free article. Review.
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: gleeson jg. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG. Guemez-Gamboa A, et al. Among authors: gleeson jg. Nat Genet. 2015 Jul;47(7):809-13. doi: 10.1038/ng.3311. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005868 Free PMC article.
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome.
Melo US, Macedo-Souza LI, Figueiredo T, Muotri AR, Gleeson JG, Coux G, Armas P, Calcaterra NB, Kitajima JP, Amorim S, Olávio TR, Griesi-Oliveira K, Coatti GC, Rocha CR, Martins-Pinheiro M, Menck CF, Zaki MS, Kok F, Zatz M, Santos S. Melo US, et al. Among authors: gleeson jg. Hum Mol Genet. 2015 Dec 15;24(24):6877-85. doi: 10.1093/hmg/ddv388. Epub 2015 Sep 18. Hum Mol Genet. 2015. PMID: 26385635 Free PMC article.
When size matters: CHD8 in autism.
Breuss MW, Gleeson JG. Breuss MW, et al. Among authors: gleeson jg. Nat Neurosci. 2016 Oct 26;19(11):1430-1432. doi: 10.1038/nn.4431. Nat Neurosci. 2016. PMID: 27786184 No abstract available.
Paternally inherited cis-regulatory structural variants are associated with autism.
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Brandler WM, et al. Among authors: gleeson jg. Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261. Science. 2018. PMID: 29674594 Free PMC article.
321 results