Hazlett HC, Gu H, Munsell BC, et al. Early brain development in infants at high risk for autism spectrum disorder. Nature. 2017;542(7641):348–51.
Article
CAS
PubMed
PubMed Central
Google Scholar
Constantino JN, Charman T. Diagnosis of autism spectrum disorder: reconciling the syndrome, its diverse origins, and variation in expression. Lancet Neurol. 2016;15(3):279–91.
Article
PubMed
Google Scholar
Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004;113(5):e472–86.
Article
PubMed
Google Scholar
Vorstman JAS, Parr JR, Moreno-De-Luca D, RJL A, Nurnberger JI Jr, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017;18(6):362–76.
Article
CAS
PubMed
Google Scholar
Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH. Fetal valproate syndrome and autism: additional evidence of an association. Dev Med Child Neurol. 2001;43(3):202–6.
Article
CAS
PubMed
Google Scholar
Isaksson J, Pettersson E, Kostrzewa E, Diaz Heijtz R, Bolte S. Brief report: association between autism spectrum disorder, gastrointestinal problems and perinatal risk factors within sibling pairs. J Autism Dev Disord. 2017;47(8):2621–7.
Article
PubMed
Google Scholar
Juul-Dam N, Townsend J, Courchesne E. Prenatal, perinatal, and neonatal factors in autism, pervasive developmental disorder-not otherwise specified, and the general population. Pediatrics. 2001;107(4):E63.
Article
CAS
PubMed
Google Scholar
Herman GE, Henninger N, Ratliff-Schaub K, Pastore M, Fitzgerald S, McBride KL. Genetic testing in autism: how much is enough? Genet Med. 2007;9(5):268–74.
Article
PubMed
Google Scholar
Schaefer GB, Lutz RE. Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med. 2006;8(9):549–56.
PubMed
Google Scholar
Tammimies K, Marshall CR, Walker S, et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA. 2015;314(9):895–903.
Article
CAS
PubMed
Google Scholar
CY RK, Merico D, Bookman M, et al. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci. 2017;20(4):602–11.
Article
Google Scholar
Courchesne E, Karns CM, Davis HR, et al. Unusual brain growth patterns in early life in patients with autistic disorder: an MRI study. Neurology. 2001;57(2):245–54.
Article
CAS
PubMed
Google Scholar
Aylward EH, Minshew NJ, Field K, Sparks BF, Singh N. Effects of age on brain volume and head circumference in autism. Neurology. 2002;59(2):175–83.
Article
CAS
PubMed
Google Scholar
Dementieva YA, Vance DD, Donnelly SL, et al. Accelerated head growth in early development of individuals with autism. Pediatr Neurol. 2005;32(2):102–8.
Article
PubMed
Google Scholar
Dissanayake C, Bui QM, Huggins R, Loesch DZ. Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life. Dev Psychopathol. 2006;18(2):381–93.
Article
PubMed
Google Scholar
Sacco R, Curatolo P, Manzi B, et al. Principal pathogenetic components and biological endophenotypes in autism spectrum disorders. Autism Res. 2010;3(5):237–52.
Article
PubMed
Google Scholar
Sacco R, Militerni R, Frolli A, et al. Clinical, morphological, and biochemical correlates of head circumference in autism. Biol Psychiatry. 2007;62(9):1038–47.
Article
CAS
PubMed
Google Scholar
Sacco R, Gabriele S, Persico AM. Head circumference and brain size in autism spectrum disorder: a systematic review and meta-analysis. Psychiatry Res. 2015;234(2):239–51.
Article
PubMed
Google Scholar
Zhou J, Parada LFPTEN. Signaling in autism spectrum disorders. Curr Opin Neurobiol. 2012;22(5):873–9.
Article
CAS
PubMed
Google Scholar
Varga EA, Pastore M, Prior T, Herman GE, KL MB. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med. 2009;11(2):111–7.
Article
PubMed
Google Scholar
Butler MG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005;42(4):318–21.
Article
CAS
PubMed
PubMed Central
Google Scholar
Shen Y, Dies KA, Holm IA, et al. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010;125(4):e727–35.
Article
PubMed
PubMed Central
Google Scholar
Schaefer GB, Mendelsohn NJ, Professional P, Guidelines C. Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. Genet Med. 2013;15(5):399–407.
Article
CAS
PubMed
Google Scholar
Anagnostou E, Zwaigenbaum L, Szatmari P, et al. Autism spectrum disorder: advances in evidence-based practice. CMAJ. 2014;186(7):509–19.
Article
PubMed
PubMed Central
Google Scholar
Riviere JB, Mirzaa GM, O’Roak BJ, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet. 2012;44(8):934–40.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012;44(8):941–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Mirzaa G, Timms AE, Conti V, et al. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016;1(9):e87623.
Mirzaa GM, Campbell CD, Solovieff N, et al. Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism. JAMA neurology. 2016;73(7):836–45.
Article
PubMed
PubMed Central
Google Scholar
Houge G, Haesen D, Vissers LE, et al. B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. J Clin Invest. 2015;125(8):3051–62.
Article
PubMed
PubMed Central
Google Scholar
Mirzaa GM, Parry DA, Fry AE, et al. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nat Genet. 2014;46(5):510–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Frazier TW, Embacher R, Tilot AK, Koenig K, Mester J, Eng C. Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. Mol Psychiatry. 2015;20(9):1132–8.
Article
CAS
PubMed
Google Scholar
Yeung KS, Ip JJ, Chow CP, et al. Somatic PIK3CA mutations in seven patients with PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2017;173(4):978–84.
Article
CAS
PubMed
Google Scholar
Tatton-Brown K, Loveday C, Yost S, et al. Mutations in epigenetic regulation genes are a major cause of overgrowth with intellectual disability. Am J Hum Genet. 2017;100(5):725–36.
Article
CAS
PubMed
PubMed Central
Google Scholar
Tao VQ, Chan KY, Chu YW, et al. The clinical impact of chromosomal microarray on paediatric care in Hong Kong. PLoS One. 2014;9(10):e109629.
Article
PubMed
PubMed Central
Google Scholar
Marsh DJ, Dahia PL, Zheng Z, et al. Germline mutations in PTEN are present in Bannayan-Zonana syndrome. Nat Genet. 1997;16(4):333–4.
Article
CAS
PubMed
Google Scholar
de Leon MP, Di Gregorio C, Giunti L, et al. Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome. Dig Liver Dis. 2013;45(1):75–8.
Article
PubMed
Google Scholar
Lobo GP, Waite KA, Planchon SM, Romigh T, Nassif NT, Eng C. Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function. Hum Mol Genet. 2009;18(15):2851–62.
Article
CAS
PubMed
PubMed Central
Google Scholar
Browning MJ, Chandra A, Carbonaro V, Okkenhaug K, Barwell J. Cowden’s syndrome with immunodeficiency. J Med Genet. 2015;52(12):856–9.
Article
CAS
PubMed
PubMed Central
Google Scholar
Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999;8(8):1461–72.
Article
CAS
PubMed
Google Scholar
Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.
Article
CAS
PubMed
Google Scholar
Angulo I, Vadas O, Garcon F, et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science. 2013;342(6160):866–71.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lucas CL, Kuehn HS, Zhao F, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88–97.
Article
CAS
PubMed
Google Scholar
Hussain K, Challis B, Rocha N, et al. An activating mutation of AKT2 and human hypoglycemia. Science. 2011;334(6055):474.
Article
CAS
PubMed
PubMed Central
Google Scholar
Nellist M, Schot R, Hoogeveen-Westerveld M, et al. Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. Mol Genet Metab. 2015;114(3):467–73.
Article
CAS
PubMed
Google Scholar
Baynam G, Overkov A, Davis M, et al. A germline MTOR mutation in aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. Am J Med Genet A. 2015;167(7):1659–67.
Article
CAS
PubMed
Google Scholar
Shang L, Henderson LB, Cho MT, et al. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics. 2016;17(1):43–9.
Article
CAS
PubMed
Google Scholar
Mirzaa GM, Riviere JB, Dobyns WB. Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. Am J Med Genet C Semin Med Genet. 2013;163C(2):122–30.
Article
PubMed
Google Scholar
Buxbaum JD, Cai G, Chaste P, et al. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet. 2007;144B(4):484–91.
Article
CAS
PubMed
PubMed Central
Google Scholar
McBride KL, Varga EA, Pastore MT, et al. Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. Autism Res. 2010;3(3):137–41.
Article
PubMed
Google Scholar
Moeschler JB, Shevell M. Committee on G. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903–18.
Article
PubMed
Google Scholar
Fruman DA, Rommel C. PI3K and cancer: lessons, challenges and opportunities. Nat Rev Drug Discov. 2014;13(2):140–56.
Article
CAS
PubMed
PubMed Central
Google Scholar
Tan MH, Mester JL, Ngeow J, Rybicki LA, Orloff MS, Eng C. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18(2):400–7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Bubien V, Bonnet F, Brouste V, et al. High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. J Med Genet. 2013;50(4):255–63.
Article
CAS
PubMed
Google Scholar
Peterman CM, Fevurly RD, Alomari AI, et al. Sonographic screening for Wilms tumor in children with CLOVES syndrome. Pediatric blood & cancer. 2017;64(12):e26684.
Schwerd T, Khaled AV, Schurmann M, et al. A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome. Eur J Hum Genet. 2016;24(6):889–94.
Article
PubMed
Google Scholar
Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A. 2007;143A(24):3009.
Article
PubMed
Google Scholar
Tapper WJ, Foulds N, Cross NC, et al. Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations. PLoS One. 2014;9(1):e86940.
Article
PubMed
PubMed Central
Google Scholar
Keppler-Noreuil KM, Rios JJ, Parker VE, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287–95.
Article
PubMed
Google Scholar