References
- Rio M, Molinari F, Heuertz S, et al. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet. 2002;39(4):266–270.
- Sagoo GS, Butterworth AS, Sanderson S, Shaw-Smith C, Higgins JPT, Burton H. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects. Genet Med. 2009;11(3):139–146.
- Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008;358(7):667–675.
- Meffor H, Sharp A, Baker C, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008;359(16):1685–1699.
- Sebat J, Lakshmi B, Malhotra D. Strong association of de novo copy number mutations with autism. Science. 2007;316(5823):445–449.
- Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders: an update. J Autism Dev Disord. 2003;33(4):365–382.
- Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics. 2004;113(5):e472–e486.
- Young GS, Merin N, Rogers SJ, Ozonoff S. Gaze behavior and affect at 6 months: predicting clinical outcomes and language development in typically developing infants and infants at risk for autism. Dev Sci. 2009;12(5):798–814.
- Minshew NJ, Williams DL. The new neurobiology of autism: cortex, connectivity, and neuronal organization. Arch Neurol. 2007;64(7):945–950.
- Williams D, Minshew NJ. Understanding autism and related disorders: what has imaging taught us? Neuroimaging Clin N Am. 2007;17: 495–509, ix.
- Courtens W, Wuyts W, Rooms L, Pera SB, Wauters J. A subterminal deletion of the long arm of chromosome 10: a clinical report and review. Am J Med Genet A. 2006;140(4):402–409.
- Balciuniene J, Feng N, Iyadurai K, et al. Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities. Am J Hum Genet. 2007;80(5):938–947.
- Ravnan JB, Tepperberg JH, Papenhausen P, et al. Subtelomere FISH analysis of 11,688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 2006;43(6):478–489.
- Martin CL, Waggoner DJ, Wong A, et al. “Molecular rulers” for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002;39(10):734–740.
- Moog U, Arens YHJM, van Lent-Albrechts JCM, et al. Subtelomeric chromosome aberrations: still a lot to learn. Clin Genet. 2005;68(5):397–407.
- DeScipio C, Spinner NB, Kaur M, et al. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals. Am J Med Genet. 2008;146A(6):730–739.
- Lu X, Shaw CA, Patel A. Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases. PLoS ONE. 2007;2(3):e327.
- Koolen DA, Nillesen WM, Versteeg MHA, et al. Screening for sub- telomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet. 2004;41(12):892–899.
- Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet. 2008;82(2):477–488.
- Erjavec-Škerget A, Stangler-Herodež S, Zagorac A, Zagradišnik B, Kokalj-Vokac N. Subtelomeric chromosome rearrangements in children with idiopathic mental retardation: applicability of three molecular- cytogenetic methods. Croat Med J. 2006;47(6):841–850.
- Autism and Developmental Disabilities Monitoring Network Surveillance Year 2006 Principal Investigators; Centers for Disease Control and Prevention CDC. Prevalence of autism spectrum disorders-Autism and Developmental Disabilities Monitoring Network, United States, 2006. MMWR Surveill Summ. 2009;58(10):1–20.
- 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):318–321.
- Chubykin AA, Liu X, Comoletti D, Tsigelny I, Taylor P, Südhof TC. Dissection of synapse induction by neuroligins: effect of a neuro- ligin mutation associated with autism. J Biol Chem. 2005;280(23):22365–22374.
- Online Mendelian Inheritance in Man® [database online]. Baltimore, MD: John Hopkins University; 1995. Updated January 1, 2011. Available at http://www.ncbi.nlm.nih.gov/omim. Accessed May 12, 2011.
- Brunelli S, Faiella A, Capra V et al. Germline mutation in the homeobox gene EMX2 in patients with severe schizencephaly Nat Genet. 1996;12(1):94–96.