1 | MCAUTS, PTEN
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| Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis
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| Fu S, Bury LAD, Eum J, Wynshaw-Boris A.
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| Am J Hum Genet. May 4;110(5):826-845. doi: 10.1016/j.ajhg.2023.03.015. Epub 2023 Apr 24. 2023
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2 | MCAUTS, PTEN
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| Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.
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| Smith IN, Thacker S, Seyfi M, Cheng F, Eng C.
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| Am J Hum Genet 104(5):861-878. doi: 10.1016/j.ajhg.2019.03.009. Epub 2019 Apr 18.
2019
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3 | MCAUTS, MHAM, PTEN
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| Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.
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| Yehia L, Ni Y, Feng F, Seyfi M, Sadler T, Frazier TW, Eng C.
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| Am J Hum Genet 105(4):813-821. doi: 10.1016/j.ajhg.2019.09.004. Epub 2019 Sep 26. 2019
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4 | AKT3, BRWD3, CLOVES, DNMT3A, DNMT3OGS, EZH2, GPC3, HIST1H1E, MCAUTS, MPPH2, MRD35, MRX93, MSMR, MSMS, MTOR, NFIX, NSD1, OGID1, PIK3CA, PPP2R5D, PTEN, SGBS, STOL1, WVSS1, WVSS2
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| Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
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| Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration, Mahamdallie S, Seal S, Ruark E, Rahman N.
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| Am J Hum Genet 100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. 2017
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5 | MCAUTS, PTEN
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| Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.
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| Orrico A, Galli L, Buoni S, Orsi A, Vonella G, Sorrentino V.
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| Clin Genet 75(2):195-8. Epub 2008 Aug 26.
2009
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6 | MCAUTS, PTEN
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| 1: The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
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| Varga EA, Pastore M, Prior T, Herman GE, McBride KL.
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| Genet Med 11(2):111-7.
2009
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7 | MCAUTS, PTEN
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| The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
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| Varga EA, Pastore M, Prior T, Herman GE, McBride KL.
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| Genet Med 11(2):111-7.
2009
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8 | MCAUTS, PTEN
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| Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
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| Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A.
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| Am J Med Genet A 143(6):589-93. 2007
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9 | MCAUTS, PTEN
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| Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.
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| Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reichert J, Anckarsäter H, Rastam M, Smith CJ, Silverman JM, Hollander E, Leboyer M, Gillberg C, Verloes A, Betancur C.
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| Am J Med Genet B Neuropsychiatr Genet 144B(4):484-91.
2007
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10 | MCAUTS
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| Advances in autism neuroimaging research for the clinician and geneticist.
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| Lainhart JE.
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| Am J Med Genet C Semin Med Genet 142(1):33-9. Review. 2006
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11 | PTEN, MCAUTS
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| Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
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| Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C.
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| J Med Genet 42(4):318-21. 2005
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