TY - JOUR AU - Miller, D. T. AU - Adam, M. P. AU - Aradhya, S. 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 - Watson, C. T. AU - Marques-Bonet, T. AU - Sharp, A. J. AU - Mefford, H. C. PY - 2014 DA - 2014// TI - The genetics of microdeletion and microduplication syndromes: an update JO - Annu Rev Genomics Hum Genet VL - 15 UR - https://doi.org/10.1146/annurev-genom-091212-153408 DO - 10.1146/annurev-genom-091212-153408 ID - Watson2014 ER - TY - JOUR AU - Rajcan-Separovic, E. AU - Harvard, C. AU - Liu, X. PY - 2007 DA - 2007// TI - Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 JO - J Med Genet VL - 44 UR - https://doi.org/10.1136/jmg.2006.045013 DO - 10.1136/jmg.2006.045013 ID - Rajcan-Separovic2007 ER - TY - JOUR AU - Chabchoub, E. AU - Vermeesch, J. R. AU - de Ravel, T. AU - de Cock, P. AU - Fryns, J. P. PY - 2008 DA - 2008// TI - The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15 JO - J Med Genet VL - 45 UR - https://doi.org/10.1136/jmg.2007.056176 DO - 10.1136/jmg.2007.056176 ID - Chabchoub2008 ER - TY - JOUR AU - de Leeuw, N. AU - Pfundt, R. AU - Koolen, D. A. PY - 2008 DA - 2008// TI - A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis JO - J Med Genet VL - 45 UR - https://doi.org/10.1136/jmg.2007.054049 DO - 10.1136/jmg.2007.054049 ID - de Leeuw2008 ER - TY - JOUR AU - Liang, J. S. AU - Shimojima, K. AU - Ohno, K. AU - Sugiura, C. AU - Une, Y. AU - Yamamoto, T. PY - 2009 DA - 2009// TI - A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion JO - J Med Genet VL - 46 UR - https://doi.org/10.1136/jmg.2008.059220 DO - 10.1136/jmg.2008.059220 ID - Liang2009 ER - TY - JOUR AU - Felix, T. M. AU - Petrin, A. L. AU - Sanseverino, M. T. AU - Murray, J. C. PY - 2010 DA - 2010// TI - Further characterization of microdeletion syndrome involving 2p15-p16.1 JO - Am J Med Genet A VL - 152A UR - https://doi.org/10.1002/ajmg.a.33612 DO - 10.1002/ajmg.a.33612 ID - Felix2010 ER - TY - JOUR AU - Prontera, P. AU - Bernardini, L. AU - Stangoni, G. PY - 2011 DA - 2011// TI - Deletion 2p15-16.1 syndrome: case report and review JO - Am J Med Genet A VL - 155A UR - https://doi.org/10.1002/ajmg.a.33875 DO - 10.1002/ajmg.a.33875 ID - Prontera2011 ER - TY - JOUR AU - Piccione, M. AU - Piro, E. AU - Serraino, F. PY - 2012 DA - 2012// TI - Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation JO - Eur J Med Genet VL - 55 UR - https://doi.org/10.1016/j.ejmg.2012.01.014 DO - 10.1016/j.ejmg.2012.01.014 ID - Piccione2012 ER - TY - JOUR AU - Hancarova, M. AU - Simandlova, M. AU - Drabova, J. AU - Mannik, K. AU - Kurg, A. AU - Sedlacek, Z. PY - 2013 DA - 2013// TI - A patient with de novo 0.45 Mb deletion of 2p16.1: the role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome JO - Am J Med Genet A VL - 161A UR - https://doi.org/10.1002/ajmg.a.35783 DO - 10.1002/ajmg.a.35783 ID - Hancarova2013 ER - TY - JOUR AU - Mimouni-Bloch, A. AU - Yeshaya, J. AU - Kahana, S. AU - Maya, I. AU - Basel-Vanagaite, L. PY - 2015 DA - 2015// TI - A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: clinical and molecular analysis JO - Eur J Paediatr Neurol VL - 19 UR - https://doi.org/10.1016/j.ejpn.2015.07.013 DO - 10.1016/j.ejpn.2015.07.013 ID - Mimouni-Bloch2015 ER - TY - STD TI - DGV database, http://dgv.tcag.ca/, Accessed 20 Sept 2017. UR - http://dgv.tcag.ca/ ID - ref12 ER - TY - STD TI - Clinical Genome, ISCA Database, http://dbsearch.clinicalgenome.org/search/, Accessed 20 Sept 2017. UR - http://dbsearch.clinicalgenome.org/search/ ID - ref13 ER - TY - STD TI - The Decipher Database, release version 9.10, http://decipher.sanger.ac.uk, Accessed 20 Sept 2017. UR - http://decipher.sanger.ac.uk/ ID - ref14 ER - TY - JOUR AU - Shinawi, M. AU - Liu, P. AU - S-HL, K. PY - 2010 DA - 2010// TI - Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, bahavioural problems, dysmorphism, epilepsy, and abnormal head size JO - J Med Genet VL - 47 UR - https://doi.org/10.1136/jmg.2009.073015 DO - 10.1136/jmg.2009.073015 ID - Shinawi2010 ER - TY - JOUR AU - Jacquemont, S. AU - Reymond, A. AU - Zufferey, F. PY - 2011 DA - 2011// TI - Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus JO - Nature VL - 478 UR - https://doi.org/10.1038/nature10406 DO - 10.1038/nature10406 ID - Jacquemont2011 ER - TY - JOUR AU - Peter, B. AU - Matsushita, M. AU - Oda, K. AU - Raskind, W. PY - 2014 DA - 2014// TI - De novo microdeletion of BCL11A is associated with severe speech sound disorder JO - Am J Med Genet A VL - 164A UR - https://doi.org/10.1002/ajmg.a.36599 DO - 10.1002/ajmg.a.36599 ID - Peter2014 ER - TY - JOUR AU - Bagheri, H. AU - Badduke, C. AU - Qiao, Y. PY - 2016 DA - 2016// TI - Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis JO - JCI Insight VL - 1 UR - https://doi.org/10.1172/jci.insight.85461 DO - 10.1172/jci.insight.85461 ID - Bagheri2016 ER -