{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:46:23Z","timestamp":1792043183543,"version":"4.4.0"},"reference-count":70,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2018,1,19]],"date-time":"2018-01-19T00:00:00Z","timestamp":1516320000000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/academic.oup.com\/journals\/pages\/about_us\/legal\/notices"}],"funder":[{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01 HL084410"],"award-info":[{"award-number":["R01 HL084410"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["P01 HD070454"],"award-info":[{"award-number":["P01 HD070454"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["U01 MH101720"],"award-info":[{"award-number":["U01 MH101720"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R21HL118637"],"award-info":[{"award-number":["R21HL118637"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R01 MH085903"],"award-info":[{"award-number":["R01 MH085903"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["1100131"],"award-info":[{"award-number":["1100131"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["1130392"],"award-info":[{"award-number":["1130392"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-97800"],"award-info":[{"award-number":["MOP-97800"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-89066"],"award-info":[{"award-number":["MOP-89066"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["FNS 324730_121996"],"award-info":[{"award-number":["FNS 324730_121996"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","award":["FNS 324730_144260"],"award-info":[{"award-number":["FNS 324730_144260"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,4,1]]},"DOI":"10.1093\/hmg\/ddy028","type":"journal-article","created":{"date-parts":[[2018,1,16]],"date-time":"2018-01-16T15:10:11Z","timestamp":1516115411000},"page":"1150-1163","source":"Crossref","is-referenced-by-count":29,"title":["Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2"],"prefix":"10.1093","volume":"27","author":[{"given":"Tingwei","family":"Guo","sequence":"first","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Diacou","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Nomaru","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M","family":"McDonald-McGinn","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Hestand","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke University Leuven (KULeuven), Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfram","family":"Demaerel","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke University Leuven (KULeuven), Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liangtian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingjie","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisco","family":"Ujueta","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jidong","family":"Shan","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Montagna","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deyou","family":"Zheng","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"},{"name":"Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA"},{"name":"Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terrence B","family":"Crowley","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leila","family":"Kushan-Wells","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie E","family":"Bearden","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy R","family":"Kates","sequence":"additional","affiliation":[{"name":"Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doron","family":"Gothelf","sequence":"additional","affiliation":[{"name":"Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel"},{"name":"Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maude","family":"Schneider","sequence":"additional","affiliation":[{"name":"Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Eliez","sequence":"additional","affiliation":[{"name":"Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Geneva, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Breckpot","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke University Leuven (KULeuven), Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Swillen","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke University Leuven (KULeuven), Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob","family":"Vorstman","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Zackai","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felipe","family":"Benavides Gonzalez","sequence":"additional","affiliation":[{"name":"Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriela M","family":"Repetto","sequence":"additional","affiliation":[{"name":"Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beverly S","family":"Emanuel","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Children\u2019s Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne S","family":"Bassett","sequence":"additional","affiliation":[{"name":"Center for Addiction and Mental Health, Toronto General Hospital and the University of Toronto, Toronto, Canada"},{"name":"Department of Pediatric Laboratory Medicine and Laboratory of Medicine and Pathobiology, The Hospital for Sick Children and University of Toronto, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris R","family":"Vermeesch","sequence":"additional","affiliation":[{"name":"Center for Human Genetics, Katholieke University Leuven (KULeuven), Leuven, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian R","family":"Marshall","sequence":"additional","affiliation":[{"name":"Department of Pediatric Laboratory Medicine and Laboratory of Medicine and Pathobiology, The Hospital for Sick Children and University of Toronto, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernice E","family":"Morrow","sequence":"additional","affiliation":[{"name":"Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the International Chromosome 22q11.2, International 22q11.2 Brain and Behavior Consortia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,1,18]]},"reference":[{"key":"key\n\t\t\t\t20180803083007_ddy028-B1","doi-asserted-by":"crossref","first-page":"719.","DOI":"10.1136\/jmg.33.8.719","article-title":"Prevalence of 22q11 microdeletion","volume":"33","author":"Tezenas Du Montcel","year":"1996","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B2","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1136\/jmg.35.9.789-a","article-title":"The annual incidence of DiGeorge\/velocardiofacial syndrome","volume":"35","author":"Devriendt","year":"1998","journal-title":"J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B3","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B4","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/adc.79.4.348","article-title":"A population study of chromosome 22q11 deletions in infancy","volume":"79","author":"Goodship","year":"1998","journal-title":"Arch. Dis. Child"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B5","doi-asserted-by":"crossref","first-page":"2421","DOI":"10.1093\/hmg\/9.16.2421","article-title":"The 22q11 deletion syndromes","volume":"9","author":"Scambler","year":"2000","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B6","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1136\/adc.2003.026880","article-title":"Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden","volume":"89","author":"Oskarsdottir","year":"2004","journal-title":"Arch. Dis. Child"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B7","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1176\/appi.ajp.2013.13070864","article-title":"Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome","volume":"171","author":"Schneider","year":"2014","journal-title":"Am. J. Psychiatry"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B8","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1097\/MOP.0b013e328358acd0","article-title":"Genomic disorders on chromosome 22","volume":"24","author":"Yu","year":"2012","journal-title":"Curr. Opin. Pediatr"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B9","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/ajmg.c.31435","article-title":"Developmental trajectories in 22q11.2 deletion","volume":"169","author":"Swillen","year":"2015","journal-title":"Am. J. Med. Genet. C, Semin. Med. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B10","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2015","journal-title":"Nat. Rev. Dis. Primers"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B11","first-page":"1391","article-title":"Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome","volume":"56","author":"Morrow","year":"1995","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B12","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ajmg.1320570339","article-title":"Velo-cardio-facial syndrome: frequency and extent of 22q11 deletions","volume":"57","author":"Lindsay","year":"1995","journal-title":"Am. J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B13","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","article-title":"Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome","volume":"64","author":"Edelmann","year":"1999","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B14","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B15","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1093\/hmg\/9.4.489","article-title":"Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis","volume":"9","author":"Shaikh","year":"2000","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B16","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1086\/338458","article-title":"Human-specific duplication and mosaic transcripts: the recent paralogous structure of chromosome 22","volume":"70","author":"Bailey","year":"2002","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B17","doi-asserted-by":"crossref","first-page":"2560","DOI":"10.1093\/hmg\/ddm197","article-title":"Hominoid lineage specific amplification of low-copy repeats on 22q11.2 (LCR22s) associated with velo-cardio-facial\/digeorge syndrome","volume":"16","author":"Babcock","year":"2007","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B18","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1016\/j.ajhg.2017.09.002","article-title":"Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements","volume":"101","author":"Demaerel","year":"2017","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B19","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1101\/gr.GR-1871R","article-title":"Segmental duplications: organization and impact within the current human genome project assembly","volume":"11","author":"Bailey","year":"2001","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B20","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1038\/nrg.2015.25","article-title":"Mechanisms underlying structural variant formation in genomic disorders","volume":"17","author":"Carvalho","year":"2016","journal-title":"Nat. Rev. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B21","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1152\/physiolgenomics.00013.2012","article-title":"Human gene copy number spectra analysis in congenital heart malformations","volume":"44","author":"Tomita-Mitchell","year":"2012","journal-title":"Physiol. Genomics"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B22","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.116.001690","article-title":"Genome-wide association study to find modifiers for tetralogy of fallot in the 22q11.2 deletion syndrome identifies variants in the GPR98 locus on 5q14.3","volume":"10","author":"Guo","year":"2017","journal-title":"Circ. Cardiovasc. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B23","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1038\/nbt.1852","article-title":"Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants","volume":"29","author":"Pinto","year":"2011","journal-title":"Nat. Biotechnol"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B24","doi-asserted-by":"crossref","first-page":"e126.","DOI":"10.1093\/nar\/gkn556","article-title":"Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms","volume":"36","author":"Diskin","year":"2008","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B25","doi-asserted-by":"crossref","first-page":"865","DOI":"10.1086\/429841","article-title":"Microduplication and triplication of 22q11.2: a highly variable syndrome","volume":"76","author":"Yobb","year":"2005","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B26","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ejmg.2016.02.009","article-title":"The use of two different MLPA kits in 22q11.2 deletion syndrome","volume":"59","author":"Evers","year":"2016","journal-title":"Eur. J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B27","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1086\/515508","article-title":"Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients","volume":"61","author":"Carlson","year":"1997","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B28","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1016\/j.ajhg.2013.01.018","article-title":"Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes","volume":"92","author":"Delio","year":"2013","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B29","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1007\/s00439-006-0242-x","article-title":"Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome","volume":"120","author":"Weksberg","year":"2007","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B30","doi-asserted-by":"crossref","first-page":"15065.","DOI":"10.1038\/hgv.2015.65","article-title":"A catalog of hemizygous variation in 127 22q11 deletion patients","volume":"3","author":"Hestand","year":"2016","journal-title":"Hum. Genome Var"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B31","doi-asserted-by":"crossref","first-page":"3754","DOI":"10.1093\/hmg\/ddw221","article-title":"Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis","volume":"25","author":"Guo","year":"2016","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B32","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1101\/gr.GR-1431R","article-title":"Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus","volume":"11","author":"Edelmann","year":"2001","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B33","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1002\/humu.21296","article-title":"Type I hyperprolinemia: genotype\/phenotype correlations","volume":"31","author":"Guilmatre","year":"2010","journal-title":"Hum. Mutat"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B34","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.b.32416","article-title":"The 22q11 PRODH\/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD","volume":"171","author":"Richard","year":"2016","journal-title":"Am. J. Med. Genet. Part B, Neuropsychiatr. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B35","first-page":"23","article-title":"Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome","volume":"59","author":"Sutherland","year":"1996","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B36","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","author":"Lonsdale","year":"2013","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B37","doi-asserted-by":"crossref","first-page":"22.","DOI":"10.1186\/1471-2199-8-22","article-title":"A systematic quantification of carbonic anhydrase transcripts in the mouse digestive system","volume":"8","author":"Pan","year":"2007","journal-title":"BMC Mol. Biol"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B38","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1126\/science.1182363","article-title":"Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination","volume":"327","author":"Myers","year":"2010","journal-title":"Science"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B39","doi-asserted-by":"crossref","first-page":"12378","DOI":"10.1073\/pnas.1109531108","article-title":"Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations","volume":"108","author":"Berg","year":"2011","journal-title":"Proc. Natl Acad. Sci. U.S.A"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B40","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1126\/science.1072047","article-title":"Recent segmental duplications in the human genome","volume":"297","author":"Bailey","year":"2002","journal-title":"Science"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B41","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng0795-269","article-title":"Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene","volume":"10","author":"Budarf","year":"1995","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B42","doi-asserted-by":"crossref","first-page":"206.","DOI":"10.1007\/BF00282098","article-title":"DiGeorge syndrome and 22q11 rearrangements","volume":"74","author":"Augusseau","year":"1986","journal-title":"Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B43","doi-asserted-by":"crossref","first-page":"14608","DOI":"10.1073\/pnas.94.26.14608","article-title":"Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization","volume":"94","author":"Puech","year":"1997","journal-title":"Proc. Natl Acad. Sci. U.S.A"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B44","doi-asserted-by":"crossref","first-page":"2519","DOI":"10.1101\/gr.1549503","article-title":"Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolution","volume":"13","author":"Babcock","year":"2003","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B45","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1097\/00125817-200101000-00003","article-title":"Evolutionarily conserved low copy repeats (LCRs) in 22q11 mediate deletions, duplications, translocations, and genomic instability: an update and literature review","volume":"3","author":"Shaikh","year":"2001","journal-title":"Genet. Med"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B46","doi-asserted-by":"crossref","first-page":"999","DOI":"10.1038\/ng1853","article-title":"A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism","volume":"38","author":"Koolen","year":"2006","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B47","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1086\/426950","article-title":"Identification of a 3.0-kb major recombination hotspot in patients with Sotos syndrome who carry a common 1.9-Mb microdeletion","volume":"76","author":"Visser","year":"2005","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B48","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1086\/341610","article-title":"Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4; 8)(p16; p23) translocation","volume":"71","author":"Giglio","year":"2002","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B49","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/ng753","article-title":"A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome","volume":"29","author":"Osborne","year":"2001","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B50","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1086\/376565","article-title":"Mutational mechanisms of Williams-Beuren syndrome deletions","volume":"73","author":"Bayes","year":"2003","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B51","first-page":"781","article-title":"Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth","volume":"59","author":"Perez Jurado","year":"1996","journal-title":"Am. J. Hum. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B52","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1101\/gr.073197.107","article-title":"Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion","volume":"18","author":"Cusco","year":"2008","journal-title":"Genome Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B53","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/447161a","article-title":"Completing the map of human genetic variation","volume":"447","author":"Human Genome Structural Variation Working","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B54","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJMcibr067658","article-title":"Structural variation in the human genome","volume":"356","author":"Lupski","year":"2007","journal-title":"N. Engl J. Med"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B55","doi-asserted-by":"crossref","first-page":"2243","DOI":"10.1093\/hmg\/11.19.2243","article-title":"PRODH mutations and hyperprolinemia in a subset of schizophrenic patients","volume":"11","author":"Jacquet","year":"2002","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B56","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.braindev.2007.01.008","article-title":"Early neurological phenotype in 4 children with biallelic PRODH mutations","volume":"29","author":"Afenjar","year":"2007","journal-title":"Brain Dev"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B57","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1093\/hmg\/ddl443","article-title":"Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome","volume":"16","author":"Raux","year":"2007","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B58","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1038\/npp.2008.132","article-title":"Proline affects brain function in 22q11DS children with the low activity COMT 158 allele","volume":"34","author":"Vorstman","year":"2009","journal-title":"Neuropsychopharmacology"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B59","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1203\/01.PDR.0000136151.50127.1C","article-title":"A chicken model for DGCR6 as a modifier gene in the DiGeorge critical region","volume":"56","author":"Hierck","year":"2004","journal-title":"Pediatr. Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B60","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1002\/ajmg.1320420131","article-title":"Late-onset psychosis in the velo-cardio-facial syndrome","volume":"42","author":"Shprintzen","year":"1992","journal-title":"Am. J. Med. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B61","doi-asserted-by":"crossref","first-page":"4045","DOI":"10.1093\/hmg\/ddn307","article-title":"Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome","volume":"17","author":"Bassett","year":"2008","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B62","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1016\/j.jpsychires.2013.07.004","article-title":"Schizophrenia-like neurophysiological abnormalities in 22q11.2 deletion syndrome and their association to COMT and PRODH genotypes","volume":"47","author":"Zarchi","year":"2013","journal-title":"J. Psychiatr. Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B63","doi-asserted-by":"crossref","first-page":"3319","DOI":"10.1007\/s00213-015-3979-x","article-title":"Glutamatergic markers, age, intellectual functioning and psychosis in 22q11 deletion syndrome","volume":"232","author":"Evers","year":"2015","journal-title":"Psychopharmacology (Berl)"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B64","doi-asserted-by":"crossref","first-page":"1586","DOI":"10.1038\/nn1562","article-title":"Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice","volume":"8","author":"Paterlini","year":"2005","journal-title":"Nat. Neurosci"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B65","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/j.celrep.2016.09.029","article-title":"Cytosolic accumulation of L-proline disrupts GABA-ergic transmission through GAD blockade","volume":"17","author":"Crabtree","year":"2016","journal-title":"Cell Rep"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B66","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s00726-008-0111-0","article-title":"PRODH variants and risk for schizophrenia","volume":"35","author":"Willis","year":"2008","journal-title":"Amino Acids"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B67","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.schres.2011.05.006","article-title":"Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome","volume":"131","author":"Clelland","year":"2011","journal-title":"Schizophr. Res"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B68","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/sj.mp.4001597","article-title":"Hyperprolinemia is a risk factor for schizoaffective disorder","volume":"10","author":"Jacquet","year":"2005","journal-title":"Mol. Psychiatry"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B69","doi-asserted-by":"crossref","first-page":"e891.","DOI":"10.1038\/tp.2016.157","article-title":"Evidence that COMT genotype and proline interact on negative-symptom outcomes in schizophrenia and bipolar disorder","volume":"6","author":"Clelland","year":"2016","journal-title":"Transl. Psychiatry"},{"key":"key\n\t\t\t\t20180803083007_ddy028-B70","doi-asserted-by":"crossref","first-page":"11681","DOI":"10.4238\/2015.October.2.1","article-title":"Relationship between polymorphisms in the proline dehydrogenase gene and schizophrenia risk","volume":"14","author":"Ghasemvand","year":"2015","journal-title":"Genet. Mol. Res"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/7\/1150\/25421288\/ddy028.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,9]],"date-time":"2019-10-09T08:09:17Z","timestamp":1570608557000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/27\/7\/1150\/4817063"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,18]]},"references-count":70,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2018,1,18]]},"published-print":{"date-parts":[[2018,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy028","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,4,1]]},"published":{"date-parts":[[2018,1,18]]}}}