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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.
Guo H, Li Y, Shen L, Wang T, Jia X, Liu L, Xu T, Ou M, Hoekzema K, Wu H, Gillentine MA, Liu C, Ni H, Peng P, Zhao R, Zhang Y, Phornphutkul C, Stegmann APA, Prada CE, Hopkin RJ, Shieh JT, McWalter K, Monaghan KG, van Hasselt PM, van Gassen K, Bai T, Long M, Han L, Quan Y, Chen M, Zhang Y, Li K, Zhang Q, Tan J, Zhu T, Liu Y, Pang N, Peng J, Scott DA, Lalani SR, Azamian M, Mancini GMS, Adams DJ, Kvarnung M, Lindstrand A, Nordgren A, Pevsner J, Osei-Owusu IA, Romano C, Calabrese G, Galesi O, Gecz J, Haan E, Ranells J, Racobaldo M, Nordenskjold M, Madan-Khetarpal S, Sebastian J, Ball S, Zou X, Zhao J, Hu Z, Xia F, Liu P, Rosenfeld JA, de Vries BBA, Bernier RA, Xu ZD, Li H, Xie W, Hufnagel RB, Eichler EE, Xia K. Guo H, et al. Among authors: pevsner j. Sci Adv. 2019 Sep 25;5(9):eaax2166. doi: 10.1126/sciadv.aax2166. eCollection 2019 Sep. Sci Adv. 2019. PMID: 31579823 Free PMC article.
Characterization of an unbalanced translocation causing 3q28qter duplication and 10q26.2qter deletion in a patient with global developmental delay and self-injury.
Osei-Owusu IA, Norris AL, Joynt AT, Thorpe J, Cho S, Tierney E, Schmidt J, Hagopian L, Harris J, Pevsner J. Osei-Owusu IA, et al. Among authors: pevsner j. Cold Spring Harb Mol Case Stud. 2020 Dec 17;6(6):a005884. doi: 10.1101/mcs.a005884. Print 2020 Dec. Cold Spring Harb Mol Case Stud. 2020. PMID: 33335013 Free PMC article.
Mosaicism in Human Health and Disease.
Thorpe J, Osei-Owusu IA, Avigdor BE, Tupler R, Pevsner J. Thorpe J, et al. Among authors: pevsner j. Annu Rev Genet. 2020 Nov 23;54:487-510. doi: 10.1146/annurev-genet-041720-093403. Epub 2020 Sep 11. Annu Rev Genet. 2020. PMID: 32916079 Free PMC article. Review.
A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.
Fjær R, Marciniak K, Sundnes O, Hjorthaug H, Sheng Y, Hammarström C, Sitek JC, Vigeland MD, Backe PH, Øye AM, Fosse JH, Stav-Noraas TE, Uchiyama Y, Matsumoto N, Comi A, Pevsner J, Haraldsen G, Selmer KK. Fjær R, et al. Among authors: pevsner j. Hum Mol Genet. 2021 Oct 13;30(21):1919-1931. doi: 10.1093/hmg/ddab144. Hum Mol Genet. 2021. PMID: 34124757 Free PMC article.
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior.
Shirley MD, Frelin L, López JS, Jedlicka A, Dziedzic A, Frank-Crawford MA, Silverman W, Hagopian L, Pevsner J. Shirley MD, et al. Among authors: pevsner j. PLoS One. 2016 Mar 2;11(3):e0149646. doi: 10.1371/journal.pone.0149646. eCollection 2016. PLoS One. 2016. PMID: 26933844 Free PMC article.
133 results