TY - JOUR AU - Curry, C. J. AU - Stevenson, R. E. AU - Aughton, D. AU - Byrne, J. AU - Carey, J. C. AU - Cassidy, S. PY - 1997 DA - 1997// TI - Evaluation of mental retardation: recommendations of a consensus conference JO - American College of Medical Genetics Am J Med Genet VL - 72 UR - https://doi.org/3.0.CO;2-P DO - 3.0.CO;2-P ID - Curry1997 ER - TY - JOUR AU - Sagoo, G. S. AU - Butterworth, A. S. AU - Sanderson, S. AU - Shaw-Smith, C. AU - Higgins, J. P. AU - Burton, H. PY - 2009 DA - 2009// TI - 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 JO - Genet Med VL - 11 UR - https://doi.org/10.1097/GIM.0b013e318194ee8f DO - 10.1097/GIM.0b013e318194ee8f ID - Sagoo2009 ER - TY - JOUR AU - Miller, D. T. AU - Adam, M. P. AU - Aradhya, S. AU - Biesecker, L. G. AU - Brothman, A. R. AU - Carter, N. P. PY - 2010 DA - 2010// TI - Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies JO - Am J Hum Genet VL - 86 UR - https://doi.org/10.1016/j.ajhg.2010.04.006 DO - 10.1016/j.ajhg.2010.04.006 ID - Miller2010 ER - TY - JOUR AU - Yobb, T. M. AU - Somerville, M. J. AU - Willatt, L. AU - Firth, H. V. AU - Harrison, K. AU - MacKenzie, J. PY - 2005 DA - 2005// TI - Microduplication and triplication of 22q11.2: a highly variable syndrome JO - Am J Hum Genet VL - 76 UR - https://doi.org/10.1086/429841 DO - 10.1086/429841 ID - Yobb2005 ER - TY - CHAP PY - 2013 DA - 2013// TI - The 5th. Edition of the diagnostic and statistical manual of mental disorders from the American Psychiatric Association BT - American Psychiatric Association ID - ref5 ER - TY - JOUR AU - Wright, C. F. AU - Fitzgerald, T. W. AU - Jones, W. D. AU - Clayton, S. AU - McRae, J. F. AU - van Kogelenberg, M. PY - 2015 DA - 2015// TI - Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data JO - Lancet VL - 385 UR - https://doi.org/10.1016/S0140-6736(14)61705-0 DO - 10.1016/S0140-6736(14)61705-0 ID - Wright2015 ER - TY - JOUR AU - Kearney, H. M. AU - Thorland, E. C. AU - Brown, K. K. AU - Quintero-Rivera, F. AU - South, S. T. PY - 2011 DA - 2011// TI - American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants JO - Genet Med. VL - 13 UR - https://doi.org/10.1097/GIM.0b013e3182217a3a DO - 10.1097/GIM.0b013e3182217a3a ID - Kearney2011 ER - TY - JOUR AU - Utine, G. E. AU - Haliloglu, G. AU - Volkan-Salanci, B. AU - Cetinkaya, A. AU - Kiper, P. O. AU - Alanay, Y. PY - 2014 DA - 2014// TI - Etiological yield of SNP microarrays in idiopathic intellectual disability JO - Eur J Paediatr Neurol VL - 18 UR - https://doi.org/10.1016/j.ejpn.2014.01.004 DO - 10.1016/j.ejpn.2014.01.004 ID - Utine2014 ER - TY - JOUR AU - Ozyilmaz, B. AU - Kirbiyik, O. AU - Koc, A. AU - Ozdemir, T. R. AU - Kaya, O. O. AU - Guvenc, M. S. PY - 2017 DA - 2017// TI - Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies JO - Clin Genet VL - 92 UR - https://doi.org/10.1111/cge.12978 DO - 10.1111/cge.12978 ID - Ozyilmaz2017 ER - TY - JOUR AU - Vaz, S. O. AU - Pires, R. AU - Pires, L. M. AU - Carreira, I. M. AU - Anjos, R. AU - Maciel, P. PY - 2015 DA - 2015// TI - A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases JO - BMC Pediatr VL - 15 UR - https://doi.org/10.1186/s12887-015-0417-5 DO - 10.1186/s12887-015-0417-5 ID - Vaz2015 ER - TY - JOUR AU - Bi, W. AU - Probst, F. J. AU - Wiszniewska, J. AU - Plunkett, K. AU - Roney, E. K. AU - Carter, B. S. PY - 2012 DA - 2012// TI - Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events JO - J Med Genet VL - 49 UR - https://doi.org/10.1136/jmedgenet-2012-101002 DO - 10.1136/jmedgenet-2012-101002 ID - Bi2012 ER - TY - JOUR AU - Kheradmand Kia, S. AU - Verbeek, E. AU - Engelen, E. AU - Schot, R. AU - Poot, R. A. AU - de Coo, I. F. PY - 2012 DA - 2012// TI - RTTN mutations link primary cilia function to organization of the human cerebral cortex JO - Am J Hum Genet VL - 91 UR - https://doi.org/10.1016/j.ajhg.2012.07.008 DO - 10.1016/j.ajhg.2012.07.008 ID - Kheradmand Kia2012 ER - TY - JOUR AU - Vuillaume, M. L. AU - Naudion, S. AU - Banneau, G. AU - Diene, G. AU - Cartault, A. AU - Cailley, D. PY - 2014 DA - 2014// TI - New candidate loci identified by array-CGH in a cohort of 100 children presenting with syndromic obesity JO - Am J Med Genet A VL - 164A UR - https://doi.org/10.1002/ajmg.a.36587 DO - 10.1002/ajmg.a.36587 ID - Vuillaume2014 ER - TY - JOUR AU - Lawrenson, I. D. AU - Krebs, D. L. AU - Linossi, E. M. AU - Zhang, J. G. AU - McLennan, T. J. AU - Collin, C. PY - 2017 DA - 2017// TI - Cortical layer inversion and deregulation of Reelin signaling in the absence of SOCS6 and SOCS7 JO - Cereb Cortex VL - 27 ID - Lawrenson2017 ER - TY - JOUR AU - Ma, L. AU - Chung, W. K. PY - 2014 DA - 2014// TI - The genetic basis of pulmonary arterial hypertension JO - Hum Genet VL - 133 UR - https://doi.org/10.1007/s00439-014-1419-3 DO - 10.1007/s00439-014-1419-3 ID - Ma2014 ER - TY - JOUR AU - Wei, P. AU - Pattarini, R. AU - Rong, Y. AU - Guo, H. AU - Bansal, P. K. AU - Kusnoor, S. V. PY - 2012 DA - 2012// TI - The Cbln family of proteins interact with multiple signaling pathways JO - J Neurochem VL - 121 UR - https://doi.org/10.1111/j.1471-4159.2012.07648.x DO - 10.1111/j.1471-4159.2012.07648.x ID - Wei2012 ER - TY - JOUR AU - Cousins, S. L. AU - Innocent, N. AU - Stephenson, F. A. PY - 2013 DA - 2013// TI - Neto1 associates with the NMDA receptor/amyloid precursor protein complex JO - J Neurochem VL - 126 UR - https://doi.org/10.1111/jnc.12280 DO - 10.1111/jnc.12280 ID - Cousins2013 ER - TY - JOUR AU - Ng, D. AU - Pitcher, G. M. AU - Szilard, R. K. AU - Sertie, A. AU - Kanisek, M. AU - Clapcote, S. J. PY - 2009 DA - 2009// TI - Neto1 is a novel CUB-domain NMDA receptor-interacting protein required for synaptic plasticity and learning JO - PLoS Biol VL - e41 ID - Ng2009 ER - TY - JOUR AU - Cody, J. D. AU - Hasi, M. AU - Soileau, B. AU - Heard, P. AU - Carter, E. AU - Sebold, C. PY - 2014 DA - 2014// TI - Establishing a reference group for distal 18q-: clinical description and molecular basis JO - Hum Genet VL - 133 UR - https://doi.org/10.1007/s00439-013-1364-6 DO - 10.1007/s00439-013-1364-6 ID - Cody2014 ER - TY - JOUR AU - O'Donnell, L. AU - Soileau, B. AU - Heard, P. AU - Carter, E. AU - Sebold, C. AU - Gelfond, J. PY - 2010 DA - 2010// TI - Genetic determinants of autism in individuals with deletions of 18q JO - Hum Genet VL - 128 UR - https://doi.org/10.1007/s00439-010-0839-y DO - 10.1007/s00439-010-0839-y ID - O'Donnell2010 ER -