TY - CHAP PY - 2013 DA - 2013// TI - Autism spectrum disorder BT - Diagnostic and Statistical Manual of Mental Disorders: DSM-5 PB - American Psychiatric Association CY - Washington UR - https://doi.org/10.1176/appi.books.9780890425596 DO - 10.1176/appi.books.9780890425596 ID - ref1 ER - TY - JOUR AU - Kanner, L. PY - 1943 DA - 1943// TI - Autistic disturbances of affective contact JO - Nerv Child VL - 2 ID - Kanner1943 ER - TY - JOUR AU - Heller, T. PY - 1908 DA - 1908// TI - Dementia infantilis JO - Zeitschrift fur die Erforschung und Behandlung des Jugenlichen, Schwachsinns VL - 2 ID - Heller1908 ER - TY - JOUR AU - Westphal, A. AU - Schelinski, S. AU - Volkmar, F. AU - Pelphrey, K. PY - 2013 DA - 2013// TI - Revisiting regression in autism: Heller’s dementia infantilis JO - J Autism Dev Disord VL - 43 UR - https://doi.org/10.1007/s10803-012-1559-z DO - 10.1007/s10803-012-1559-z ID - Westphal2013 ER - TY - BOOK PY - 1992 DA - 1992// TI - The ICD-10 classification of mental and behavioural disorders: clinical descriptions and diagnostic guidelines PB - World Health Organization CY - Geneva ID - ref5 ER - TY - CHAP PY - 1994 DA - 1994// TI - Pervasive Developmental Disorders BT - Diagnostic and statistical manual of mental disorders: DSM-IV PB - American Psychiatric Association CY - Washington ID - ref6 ER - TY - JOUR AU - Hendry, C. N. PY - 2000 DA - 2000// TI - Childhood disintegrative disorder: should it be considered a distinct diagnosis? JO - Clin Psychol Rev VL - 20 UR - https://doi.org/10.1016/S0272-7358(98)00094-4 DO - 10.1016/S0272-7358(98)00094-4 ID - Hendry2000 ER - TY - JOUR AU - Rosman, N. P. AU - Bergia, B. M. PY - 2013 DA - 2013// TI - Childhood disintegrative disorder: distinction from autistic disorder and predictors of outcome JO - J Child Neurol VL - 28 UR - https://doi.org/10.1177/0883073812472391 DO - 10.1177/0883073812472391 ID - Rosman2013 ER - TY - JOUR AU - Mouridsen, S. E. AU - Rich, B. AU - Isager, T. PY - 2000 DA - 2000// TI - A comparative study of genetic and neurobiological findings in disintegrative psychosis and infantile autism JO - Psychiatry Clin Neurosci VL - 54 UR - https://doi.org/10.1046/j.1440-1819.2000.00734.x DO - 10.1046/j.1440-1819.2000.00734.x ID - Mouridsen2000 ER - TY - JOUR AU - Volkmar, F. R. AU - Cohen, D. J. PY - 1989 DA - 1989// TI - Disintegrative disorder or “late onset” autism JO - J Child Psychol Psychiatry VL - 30 UR - https://doi.org/10.1111/j.1469-7610.1989.tb00784.x DO - 10.1111/j.1469-7610.1989.tb00784.x ID - Volkmar1989 ER - TY - JOUR AU - Volkmar, F. R. AU - Rutter, M. PY - 1995 DA - 1995// TI - Childhood disintegrative disorder: results of the DSM-IV autism field trial JO - J Am Acad Child Adolesc Psychiatry VL - 34 UR - https://doi.org/10.1097/00004583-199508000-00020 DO - 10.1097/00004583-199508000-00020 ID - Volkmar1995 ER - TY - JOUR AU - Fombone, E. PY - 2002 DA - 2002// TI - Prevalence of childhood disintegrative disorder JO - Autism VL - 6 UR - https://doi.org/10.1177/1362361302006002002 DO - 10.1177/1362361302006002002 ID - Fombone2002 ER - TY - JOUR AU - Malhotra, S. AU - Gupta, N. PY - 2002 DA - 2002// TI - Childhood disintegrative disorder: re-examination of the current concept JO - Eur Child Adolesc Psychiatry VL - 11 UR - https://doi.org/10.1007/s00787-002-0270-6 DO - 10.1007/s00787-002-0270-6 ID - Malhotra2002 ER - TY - JOUR AU - Kurita, H. AU - Osada, H. AU - Miyake, Y. PY - 2004 DA - 2004// TI - External validity of childhood disintegrative disorder in comparison with autistic disorder JO - J Autism Dev Disord VL - 34 UR - https://doi.org/10.1023/B:JADD.0000029556.25869.71 DO - 10.1023/B:JADD.0000029556.25869.71 ID - Kurita2004 ER - TY - JOUR AU - Homan, K. J. AU - Mellon, M. W. AU - Houlihan, D. AU - Katusic, M. Z. PY - 2011 DA - 2011// TI - Brief report: childhood disintegrative disorder: a brief examination of eight case studies JO - J Autism Dev Disord VL - 41 UR - https://doi.org/10.1007/s10803-010-1063-2 DO - 10.1007/s10803-010-1063-2 ID - Homan2011 ER - TY - JOUR AU - Barger, B. D. AU - Campbell, J. M. AU - McDonough, J. D. PY - 2013 DA - 2013// TI - Prevalence and onset of regression within autism spectrum disorders: a meta-analytic review JO - J Autism Dev Disord VL - 43 UR - https://doi.org/10.1007/s10803-012-1621-x DO - 10.1007/s10803-012-1621-x ID - Barger2013 ER - TY - JOUR AU - Kurita, H. AU - Koyama, T. AU - Setoya, Y. AU - Shimizu, K. AU - Osada, H. PY - 2004 DA - 2004// TI - Validity of childhood disintegrative disorder apart from autistic disorder with speech loss JO - Eur Child Adolesc Psychiatry VL - 13 UR - https://doi.org/10.1007/s00787-004-0397-8 DO - 10.1007/s00787-004-0397-8 ID - Kurita2004 ER - TY - JOUR AU - Baio, J. PY - 2014 DA - 2014// TI - Prevalence of autism spectrum disorder among children aged 8 years—autism and developmental disabilities monitoring network, 11 sites, United States, 2010 JO - MMWR Surveill Summ VL - 63 ID - Baio2014 ER - TY - JOUR AU - Fombonne, E. PY - 2009 DA - 2009// TI - Epidemiology of pervasive developmental disorders JO - Pediatr Res VL - 65 UR - https://doi.org/10.1203/PDR.0b013e31819e7203 DO - 10.1203/PDR.0b013e31819e7203 ID - Fombonne2009 ER - TY - JOUR AU - Kang, H. J. AU - Kawasawa, Y. I. AU - Cheng, F. AU - Zhu, Y. AU - Xu, X. AU - Li, M. PY - 2011 DA - 2011// TI - Spatio-temporal transcriptome of the human brain JO - Nature VL - 478 UR - https://doi.org/10.1038/nature10523 DO - 10.1038/nature10523 ID - Kang2011 ER - TY - JOUR AU - Tottenham, N. AU - Tanaka, J. W. AU - Leon, A. C. AU - McCarry, T. AU - Nurse, M. AU - Hare, T. A. PY - 2009 DA - 2009// TI - The NimStim set of facial expressions: judgments from untrained research participants JO - Psychiatry Res VL - 168 UR - https://doi.org/10.1016/j.psychres.2008.05.006 DO - 10.1016/j.psychres.2008.05.006 ID - Tottenham2009 ER - TY - JOUR AU - Rubeis, S. AU - He, X. AU - Goldberg, A. P. AU - Poultney, C. S. AU - Samocha, K. AU - Cicek, A. E. PY - 2014 DA - 2014// TI - Synaptic, transcriptional and chromatin genes disrupted in autism JO - Nature VL - 515 UR - https://doi.org/10.1038/nature13772 DO - 10.1038/nature13772 ID - Rubeis2014 ER - TY - JOUR AU - Iossifov, I. AU - O’Roak, B. J. AU - Sanders, S. J. AU - Ronemus, M. AU - Krumm, N. AU - Levy, D. PY - 2014 DA - 2014// TI - The contribution of de novo coding mutations to autism spectrum disorder JO - Nature VL - 515 UR - https://doi.org/10.1038/nature13908 DO - 10.1038/nature13908 ID - Iossifov2014 ER - TY - JOUR AU - Sanders, S. J. AU - He, X. AU - Willsey, A. J. AU - Ercan-Sencicek, A. G. AU - Samocha, K. E. AU - Cicek, A. E. PY - 2015 DA - 2015// TI - Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci JO - Neuron VL - 87 UR - https://doi.org/10.1016/j.neuron.2015.09.016 DO - 10.1016/j.neuron.2015.09.016 ID - Sanders2015 ER - TY - JOUR AU - Hoischen, A. AU - Krumm, N. AU - Eichler, E. E. PY - 2014 DA - 2014// TI - Prioritization of neurodevelopmental disease genes by discovery of new mutations JO - Nat Neurosci VL - 17 UR - https://doi.org/10.1038/nn.3703 DO - 10.1038/nn.3703 ID - Hoischen2014 ER - TY - JOUR AU - Ronemus, M. AU - Iossifov, I. AU - Levy, D. AU - Wigler, M. PY - 2014 DA - 2014// TI - The role of de novo mutations in the genetics of autism spectrum disorders JO - Nat Rev Genet VL - 15 UR - https://doi.org/10.1038/nrg3585 DO - 10.1038/nrg3585 ID - Ronemus2014 ER - TY - JOUR AU - Bunik, V. AU - Kaehne, T. AU - Degtyarev, D. AU - Shcherbakova, T. AU - Reiser, G. PY - 2008 DA - 2008// TI - Novel isoenzyme of 2-oxoglutarate dehydrogenase is identified in brain, but not in heart JO - FEBS J VL - 275 UR - https://doi.org/10.1111/j.1742-4658.2008.06632.x DO - 10.1111/j.1742-4658.2008.06632.x ID - Bunik2008 ER - TY - JOUR AU - Allison, T. AU - Ginter, H. AU - McCarthy, G. AU - Nobre, A. C. AU - Puce, A. AU - Luby, M. PY - 1994 DA - 1994// TI - Face recognition in human extrastriate cortex JO - J Neurophysiol VL - 71 ID - Allison1994 ER - TY - JOUR AU - Kanwisher, N. AU - McDermott, J. AU - Chun, M. M. PY - 1997 DA - 1997// TI - The fusiform face area: a module in human extrastriate cortex specialized for face perception JO - J Neurosci VL - 17 ID - Kanwisher1997 ER - TY - JOUR AU - Pitcher, D. AU - Walsh, V. AU - Duchaine, B. PY - 2011 DA - 2011// TI - The role of the occipital face area in the cortical face perception network JO - Exp Brain Res VL - 209 UR - https://doi.org/10.1007/s00221-011-2579-1 DO - 10.1007/s00221-011-2579-1 ID - Pitcher2011 ER - TY - JOUR AU - Schultz, R. T. AU - Gauthier, I. AU - Klin, A. AU - Fulbright, R. K. AU - Anderson, A. W. AU - Volkmar, F. PY - 2000 DA - 2000// TI - Abnormal ventral temporal cortical activity during face discrimination among individuals with autism and Asperger syndrome JO - Arch Gen Psychiatry VL - 57 UR - https://doi.org/10.1001/archpsyc.57.4.331 DO - 10.1001/archpsyc.57.4.331 ID - Schultz2000 ER - TY - JOUR AU - Pelphrey, K. A. AU - Sasson, N. J. AU - Reznick, J. S. AU - Paul, G. AU - Goldman, B. D. AU - Piven, J. PY - 2002 DA - 2002// TI - Visual scanning of faces in autism JO - J Autism Dev Disord VL - 32 UR - https://doi.org/10.1023/A:1016374617369 DO - 10.1023/A:1016374617369 ID - Pelphrey2002 ER - TY - JOUR AU - Klin, A. AU - Jones, W. AU - Schultz, R. AU - Volkmar, F. AU - Cohen, D. PY - 2002 DA - 2002// TI - Visual fixation patterns during viewing of naturalistic social situations as predictors of social competence in individuals with autism JO - Arch Gen Psychiatry VL - 59 UR - https://doi.org/10.1001/archpsyc.59.9.809 DO - 10.1001/archpsyc.59.9.809 ID - Klin2002 ER - TY - JOUR AU - Papagiannopoulou, E. A. AU - Chitty, K. M. AU - Hermens, D. F. AU - Hickie, I. B. AU - Lagopoulos, J. PY - 2014 DA - 2014// TI - A systematic review and meta-analysis of eye-tracking studies in children with autism spectrum disorders JO - Soc Neurosci. VL - 9 ID - Papagiannopoulou2014 ER - TY - JOUR AU - Campbell, D. J. AU - Shic, F. AU - Macari, S. AU - Chawarska, K. PY - 2014 DA - 2014// TI - Gaze response to dyadic bids at 2 years related to outcomes at 3 years in autism spectrum disorders: a subtyping analysis JO - J Autism Dev Disord VL - 44 UR - https://doi.org/10.1007/s10803-013-1885-9 DO - 10.1007/s10803-013-1885-9 ID - Campbell2014 ER - TY - JOUR AU - Norbury, C. F. AU - Brock, J. AU - Cragg, L. AU - Einav, S. AU - Griffiths, H. AU - Nation, K. PY - 2009 DA - 2009// TI - Eye-movement patterns are associated with communicative competence in autistic spectrum disorders JO - J Child Psychol Psychiatry VL - 50 UR - https://doi.org/10.1111/j.1469-7610.2009.02073.x DO - 10.1111/j.1469-7610.2009.02073.x ID - Norbury2009 ER - TY - JOUR AU - Lewkowicz, D. J. AU - Hansen-Tift, A. M. PY - 2012 DA - 2012// TI - Infants deploy selective attention to the mouth of a talking face when learning speech JO - Proc Natl Acad Sci U S A VL - 109 UR - https://doi.org/10.1073/pnas.1114783109 DO - 10.1073/pnas.1114783109 ID - Lewkowicz2012 ER - TY - JOUR AU - Norbury, C. F. AU - Griffiths, H. AU - Nation, K. PY - 2010 DA - 2010// TI - Sound before meaning: word learning in autistic disorders JO - Neuropsychologia VL - 48 UR - https://doi.org/10.1016/j.neuropsychologia.2010.10.015 DO - 10.1016/j.neuropsychologia.2010.10.015 ID - Norbury2010 ER - TY - JOUR AU - Morton, J. AU - Johnson, M. H. PY - 1991 DA - 1991// TI - CONSPEC and CONLERN: a two-process theory of infant face recognition JO - Psychol Rev VL - 98 UR - https://doi.org/10.1037/0033-295X.98.2.164 DO - 10.1037/0033-295X.98.2.164 ID - Morton1991 ER - TY - JOUR AU - Johnson, M. H. PY - 2014 DA - 2014// TI - Autism: demise of the innate social orienting hypothesis JO - Curr Biol VL - 24 UR - https://doi.org/10.1016/j.cub.2013.11.021 DO - 10.1016/j.cub.2013.11.021 ID - Johnson2014 ER - TY - JOUR AU - Jones, W. AU - Klin, A. PY - 2013 DA - 2013// TI - Attention to eyes is present but in decline in 2–6-month-old infants later diagnosed with autism JO - Nature VL - 504 UR - https://doi.org/10.1038/nature12715 DO - 10.1038/nature12715 ID - Jones2013 ER - TY - JOUR AU - Tarpey, P. S. AU - Smith, R. AU - Pleasance, E. AU - Whibley, A. AU - Edkins, S. AU - Hardy, C. PY - 2009 DA - 2009// TI - A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation JO - Nature VL - 41 ID - Tarpey2009 ER - TY - JOUR AU - Rauch, A. AU - Wieczorek, D. AU - Graf, E. AU - Wieland, T. AU - Endele, S. AU - Schwarzmayr, T. PY - 2012 DA - 2012// TI - Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study JO - Lancet VL - 380 UR - https://doi.org/10.1016/S0140-6736(12)61480-9 DO - 10.1016/S0140-6736(12)61480-9 ID - Rauch2012 ER - TY - JOUR AU - Hu, H. AU - Haas, S. A. AU - Chelly, J. AU - Esch, H. AU - Raynaud, M. AU - Brouwer, A. P. PY - 2016 DA - 2016// TI - X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes JO - Mol Psychiatry VL - 21 UR - https://doi.org/10.1038/mp.2014.193 DO - 10.1038/mp.2014.193 ID - Hu2016 ER - TY - JOUR AU - Kirov, G. AU - Rees, E. AU - Walters, J. T. R. AU - Escott-Price, V. AU - Georgieva, L. AU - Richards, A. L. PY - 2014 DA - 2014// TI - The penetrance of copy number variations for schizophrenia and developmental delay JO - Biol Psychiatry VL - 75 UR - https://doi.org/10.1016/j.biopsych.2013.07.022 DO - 10.1016/j.biopsych.2013.07.022 ID - Kirov2014 ER - TY - JOUR AU - Mulle, J. G. AU - Dodd, A. F. AU - McGrath, J. A. AU - Wolyniec, P. S. AU - Mitchell, A. A. AU - Shetty, A. C. PY - 2010 DA - 2010// TI - Microdeletions of 3q29 confer high risk for schizophrenia JO - Am J Hum Genet VL - 87 UR - https://doi.org/10.1016/j.ajhg.2010.07.013 DO - 10.1016/j.ajhg.2010.07.013 ID - Mulle2010 ER - TY - JOUR AU - Allen, A. S. AU - Berkovic, S. F. AU - Cossette, P. AU - Delanty, N. AU - Dlugos, D. AU - Eichler, E. E. PY - 2013 DA - 2013// TI - De novo mutations in epileptic encephalopathies JO - Nature VL - 501 UR - https://doi.org/10.1038/nature12439 DO - 10.1038/nature12439 ID - Allen2013 ER - TY - JOUR AU - Xu, B. AU - Ionita-Laza, I. AU - Roos, J. L. AU - Boone, B. AU - Woodrick, S. AU - Sun, Y. PY - 2012 DA - 2012// TI - De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia JO - Nat Genet VL - 44 UR - https://doi.org/10.1038/ng.2446 DO - 10.1038/ng.2446 ID - Xu2012 ER - TY - JOUR AU - Fitzgerald, T. W. AU - Gerety, S. S. AU - Jones, W. D. AU - Kogelenberg, M. AU - King, D. A. AU - McRae, J. PY - 2015 DA - 2015// TI - Large-scale discovery of novel genetic causes of developmental disorders JO - Nature VL - 519 UR - https://doi.org/10.1038/nature14135 DO - 10.1038/nature14135 ID - Fitzgerald2015 ER - TY - JOUR AU - Ahn, K. AU - Gotay, N. AU - Andersen, T. M. AU - Anvari, A. A. AU - Gochman, P. AU - Lee, Y. PY - 2014 DA - 2014// TI - High rate of disease-related copy number variations in childhood onset schizophrenia JO - Mol Psychiatry VL - 19 UR - https://doi.org/10.1038/mp.2013.59 DO - 10.1038/mp.2013.59 ID - Ahn2014 ER - TY - JOUR AU - Lim, E. T. AU - Raychaudhuri, S. AU - Sanders, S. J. AU - Stevens, C. AU - Sabo, A. AU - MacArthur, D. G. PY - 2013 DA - 2013// TI - Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders JO - Neuron VL - 77 UR - https://doi.org/10.1016/j.neuron.2012.12.029 DO - 10.1016/j.neuron.2012.12.029 ID - Lim2013 ER - TY - JOUR AU - Piton, A. AU - Gauthier, J. AU - Hamdan, F. F. AU - Lafreniere, R. G. AU - Yang, Y. AU - Henrion, E. PY - 2011 DA - 2011// TI - Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia JO - Mol Psychiatry VL - 16 UR - https://doi.org/10.1038/mp.2010.54 DO - 10.1038/mp.2010.54 ID - Piton2011 ER - TY - JOUR AU - Niranjan, T. S. AU - Skinner, C. AU - May, M. AU - Turner, T. AU - Rose, R. AU - Stevenson, R. PY - 2015 DA - 2015// TI - Affected kindred analysis of human X chromosome exomes to identify novel X-linked intellectual disability genes JO - PLoS One VL - 10 UR - https://doi.org/10.1371/journal.pone.0116454 DO - 10.1371/journal.pone.0116454 ID - Niranjan2015 ER - TY - JOUR AU - Fromer, M. AU - Pocklington, A. J. AU - Kavanagh, D. H. AU - Williams, H. J. AU - Dwyer, S. AU - Gormley, P. PY - 2014 DA - 2014// TI - De novo mutations in schizophrenia implicate synaptic networks JO - Nature VL - 506 UR - https://doi.org/10.1038/nature12929 DO - 10.1038/nature12929 ID - Fromer2014 ER - TY - JOUR AU - Ligt, J. AU - Willemsen, M. H. AU - Bon, B. W. AU - Kleefstra, T. AU - Yntema, H. G. AU - Kroes, T. PY - 2012 DA - 2012// TI - Diagnostic exome sequencing in persons with severe intellectual disability JO - N Engl J Med VL - 367 UR - https://doi.org/10.1056/NEJMoa1206524 DO - 10.1056/NEJMoa1206524 ID - Ligt2012 ER -