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De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.
Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. Torres A, et al. Mol Genet Metab Rep. 2018 Jun 15;16:23-29. doi: 10.1016/j.ymgmr.2018.06.001. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 29922587 Free PMC article.
Early auditory processing evoked potentials (N100) show a continuum of blunting from clinical high risk to psychosis in a pediatric sample.
Gonzalez-Heydrich J, Bosquet Enlow M, D'Angelo E, Seidman LJ, Gumlak S, Kim A, Woodberry KA, Rober A, Tembulkar S, Graber K, O'Donnell K, Hamoda HM, Kimball K, Rotenberg A, Oberman LM, Pascual-Leone A, Keshavan MS, Duffy FH. Gonzalez-Heydrich J, et al. Schizophr Res. 2015 Dec;169(1-3):340-345. doi: 10.1016/j.schres.2015.10.037. Epub 2015 Nov 6. Schizophr Res. 2015. PMID: 26549629 Free PMC article.
N100 Repetition Suppression Indexes Neuroplastic Defects in Clinical High Risk and Psychotic Youth.
Gonzalez-Heydrich J, Enlow MB, D'Angelo E, Seidman LJ, Gumlak S, Kim A, Woodberry KA, Rober A, Tembulkar S, O'Donnell K, Hamoda HM, Kimball K, Rotenberg A, Oberman LM, Pascual-Leone A, Keshavan MS, Duffy FH. Gonzalez-Heydrich J, et al. Neural Plast. 2016;2016:4209831. doi: 10.1155/2016/4209831. Epub 2016 Jan 12. Neural Plast. 2016. PMID: 26881109 Free PMC article.
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports.
Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Brownstein CA, et al. Am J Med Genet A. 2016 May;170A(5):1165-73. doi: 10.1002/ajmg.a.37595. Epub 2016 Feb 16. Am J Med Genet A. 2016. PMID: 26887912 Free PMC article.
657 results