{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T15:50:44Z","timestamp":1792943444781,"version":"4.5.0"},"reference-count":99,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,12,1]],"date-time":"2023-12-01T00:00:00Z","timestamp":1701388800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T00:00:00Z","timestamp":1696464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000243","name":"W. Garfield Weston Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100023930","name":"University of Toronto McLaughlin Centre","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100023930","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100019889","name":"W Garfield Weston Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100019889","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MOP-111238"],"award-info":[{"award-number":["MOP-111238"]}],"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-313331"],"award-info":[{"award-number":["MOP-313331"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cjcpc.ca","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["CJC Pediatric and Congenital Heart Disease"],"published-print":{"date-parts":[[2023,12]]},"DOI":"10.1016\/j.cjcpc.2023.10.002","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T14:39:43Z","timestamp":1696948783000},"page":"426-439","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"PA","title":["Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot"],"prefix":"10.1016","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0681-7279","authenticated-orcid":false,"given":"Anne S.","family":"Bassett","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam S.","family":"Reuter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Malecki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Candice","family":"Silversides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"Oechslin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.cjcpc.2023.10.002_bib1","doi-asserted-by":"crossref","DOI":"10.1038\/npjgenmed.2016.31","article-title":"The importance of copy number variation in congenital cardiac disease","volume":"1","author":"Costain","year":"2016","journal-title":"NPJ Genom Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib2","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1161\/CIRCULATIONAHA.113.008396","article-title":"Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010","volume":"130","author":"Marelli","year":"2014","journal-title":"Circulation"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib3","doi-asserted-by":"crossref","first-page":"2155","DOI":"10.1016\/j.jacc.2013.07.100","article-title":"Hot topics in tetralogy of Fallot","volume":"62","author":"Villafane","year":"2013","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib4","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1136\/heartjnl-2015-308014","article-title":"Cardiac magnetic resonance markers of progressive RV dilation and dysfunction after tetralogy of Fallot repair","volume":"101","author":"Wald","year":"2015","journal-title":"Heart"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib5","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1016\/S0140-6736(00)02714-8","article-title":"Risk factors for arrhythmia and sudden cardiac death late after repair of tetralogy of Fallot: a multicentre study","volume":"356","author":"Gatzoulis","year":"2000","journal-title":"Lancet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib6","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1177\/2047487319854552","volume":"13","author":"De Backer","year":"2020","journal-title":"Eur J Prev Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib7","doi-asserted-by":"crossref","first-page":"e81","DOI":"10.1016\/j.jacc.2018.08.1029","article-title":"2018 AHA\/ACC guideline for the management of adults with congenital heart disease: a report of the American College of Cardiology\/American Heart Association task force on clinical practice guidelines","volume":"73","author":"Stout","year":"2019","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib8","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib9","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1093\/eurheartj\/ehaa554","article-title":"2020 ESC guidelines for the management of adult congenital heart disease","volume":"42","author":"Baumgartner","year":"2021","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib10","first-page":"1886","article-title":"Canadian Cardiovascular Society: clinical practice update on cardiovascular management of the pregnant patient","volume":"37","author":"Windram","year":"2021","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib11","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1093\/eurheartj\/ehy340","article-title":"2018 ESC guidelines for the management of cardiovascular diseases during pregnancy","volume":"39","author":"Regitz-Zagrosek","year":"2018","journal-title":"Eur Heart J"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib12","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1097\/CRD.0000000000000170","article-title":"Genetic origins of tetralogy of Fallot","volume":"26","author":"Morgenthau","year":"2018","journal-title":"Cardiol Rev"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib13","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1161\/CIRCULATIONAHA.118.035954","article-title":"Beyond the one gene-one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders","volume":"140","author":"Cerrone","year":"2019","journal-title":"Circulation"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib14","article-title":"Evaluating high-confidence genes in conotruncal cardiac defects by gene burden analyses","volume":"12","author":"Chui","year":"2023","journal-title":"J\u00a0Am Heart Assoc"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib15","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/uog.14866","article-title":"Diagnostic utility of microarray testing in pregnancy loss","volume":"46","author":"Rosenfeld","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib16","doi-asserted-by":"crossref","first-page":"1001","DOI":"10.1038\/s41436-018-0260-9","article-title":"Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot","volume":"21","author":"Reuter","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib17","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/s41569-021-00587-4","article-title":"Genomic frontiers in congenital heart disease","volume":"19","author":"Morton","year":"2022","journal-title":"Nat Rev Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib18","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib19","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1136\/jmg-2022-108962","article-title":"Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)","volume":"60","author":"Carter","year":"2023","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib20","first-page":"1","article-title":"Genome-wide sequencing for unexplained developmental disabilities or multiple congenital anomalies: a health technology assessment","volume":"20","year":"2020","journal-title":"Ont Health Technol Assess Ser"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib21","doi-asserted-by":"crossref","DOI":"10.1016\/j.jpeds.2023.113495","article-title":"Genetic testing guidelines impact care in newborns with congenital heart defects","volume":"260","author":"Durbin","year":"2023","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib22","article-title":"Learning to crawl: determining the role of genetic abnormalities on postoperative outcomes in congenital heart disease","volume":"11","author":"Landis","year":"2022","journal-title":"J\u00a0Am Heart Assoc"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib23","article-title":"Copy number variation and structural genomic findings in 116 cases of sudden unexplained death between 1 and 28 months of age","volume":"4","author":"Brownstein","year":"2023","journal-title":"Adv Genet (Hoboken)"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib24","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100866","article-title":"ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)","author":"Miller","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib25","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/s13073-023-01191-6","article-title":"Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study","volume":"15","author":"Ravel","year":"2023","journal-title":"Genome Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib26","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1002843","article-title":"Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways","volume":"8","author":"Silversides","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib27","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/ng.415","article-title":"De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot","volume":"41","author":"Greenway","year":"2009","journal-title":"Nat Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib28","doi-asserted-by":"crossref","DOI":"10.1038\/npjgenmed.2016.33","article-title":"De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients","volume":"1","author":"Mak","year":"2016","journal-title":"NPJ Genom Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib29","article-title":"Investigation of copy number variation in South African patients with congenital heart defects","volume":"15","author":"Saacks","year":"2022","journal-title":"Cir Genom Precis Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib30","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.11.012","article-title":"Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome","volume":"25","author":"Boot","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib31","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2022.11.006","article-title":"Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome","volume":"25","author":"Oskarsdottir","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib32","doi-asserted-by":"crossref","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":"10.1016\/j.cjcpc.2023.10.002_bib33","doi-asserted-by":"crossref","first-page":"899","DOI":"10.1176\/appi.ajp.2009.09071016","article-title":"Copy number variations in schizophrenia: critical review and new perspectives on concepts of genetics and disease","volume":"167","author":"Bassett","year":"2010","journal-title":"Am J Psychiatry"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib34","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1136\/jmedgenet-2018-105477","article-title":"Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank","volume":"56","author":"Crawford","year":"2019","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib35","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1007\/s00246-013-0694-4","article-title":"22q11.2 deletions in patients with conotruncal defects: data from 1,610 consecutive cases","volume":"34","author":"Peyvandi","year":"2013","journal-title":"Pediatr Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib36","doi-asserted-by":"crossref","first-page":"E802","DOI":"10.9778\/cmajo.20200294","article-title":"Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening","volume":"9","author":"Blagojevic","year":"2021","journal-title":"CMAJ Open"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib37","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1002\/uog.20412","article-title":"Systematic analysis of copy-number variations associated with early pregnancy loss","volume":"55","author":"Wang","year":"2020","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib38","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s13039-017-0308-6","article-title":"Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples","volume":"10","author":"Maisenbacher","year":"2017","journal-title":"Mol Cytogenet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib39","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1002\/pd.4613","article-title":"Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies","volume":"35","author":"Grati","year":"2015","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib40","doi-asserted-by":"crossref","first-page":"966","DOI":"10.1111\/jar.12927","article-title":"Sexual knowledge and behaviour in 22q11.2 deletion syndrome, a complex care condition","volume":"35","author":"Palmer","year":"2022","journal-title":"J\u00a0Appl Res Intellect Disabil"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib41","article-title":"De novo damaging variants, clinical phenotypes, and post-operative outcomes in congenital heart disease","volume":"13","author":"Boskovski","year":"2020","journal-title":"Cir Genom Precis Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib42","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1002\/ajmg.a.38645","article-title":"Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome","volume":"176","author":"Palmer","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib43","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":"10.1016\/j.cjcpc.2023.10.002_bib44","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ajhg.2019.11.010","article-title":"Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects","volume":"106","author":"Zhao","year":"2020","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib45","doi-asserted-by":"crossref","first-page":"e52","DOI":"10.1097\/MLR.0b013e31827631d2","article-title":"Fidelity of administrative data when researching Down syndrome","volume":"52","author":"Jensen","year":"2014","journal-title":"Med Care"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib46","first-page":"877","article-title":"The 30-tear outcomes of tetralogy of Fallot according to native anatomy and genetic conditions","volume":"37","author":"Blais","year":"2021","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib47","doi-asserted-by":"crossref","DOI":"10.1001\/jamanetworkopen.2023.14504","article-title":"Survival trends in children with tetralogy of Fallot in Sweden from 1970 to 2017","volume":"6","author":"Persson","year":"2023","journal-title":"JAMA Netw Open"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib48","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1161\/CIRCGENETICS.113.000328","article-title":"Reproductive fitness and genetic transmission of tetralogy of Fallot in the molecular age","volume":"7","author":"Chin-Yee","year":"2014","journal-title":"Circ Cardiovasc Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib49","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1161\/CIRCULATIONAHA.115.019307","article-title":"Congenital heart defects in the United States: Estimating the magnitude of the affected population in 2010","volume":"134","author":"Gilboa","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib50","article-title":"Risk of congenital heart defects in offspring of affected mothers and fathers","volume":"15","author":"Oyen","year":"2022","journal-title":"Cir Genom Precis Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib51","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1016\/j.amjcard.2010.09.045","article-title":"Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome","volume":"107","author":"Swaby","year":"2011","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib52","doi-asserted-by":"crossref","first-page":"160","DOI":"10.3390\/genes14010160","article-title":"Prenatal screening and diagnostic considerations for 22q11.2 microdeletions","volume":"14","author":"Blagowidow","year":"2023","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib53","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2023.100874","article-title":"Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"Dungan","year":"2023","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib54","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/gim.2016.97","article-title":"Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics","volume":"18","author":"Gregg","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib55","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1007\/s10897-014-9811-7","article-title":"Reproductive health issues for adults with a common genomic disorder: 22q11.2 deletion syndrome","volume":"24","author":"Chan","year":"2015","journal-title":"J\u00a0Genet Couns"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib56","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1038\/gim.2015.84","article-title":"Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome","volume":"18","author":"Van","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib57","first-page":"CD011912","article-title":"Pulse oximetry screening for critical congenital heart defects","volume":"3","author":"Plana","year":"2018","journal-title":"Cochrane Database Syst Rev"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib58","article-title":"Predictors of length of hospital stay after complete repair for tetralogy of Fallot: a prospective cohort study","volume":"7","author":"Mercer-Rosa","year":"2018","journal-title":"J\u00a0Am Heart Assoc"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib59","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1016\/j.jacc.2023.03.385","article-title":"Patient-reported outcomes after tetralogy of Fallot repair","volume":"81","author":"Kovacs","year":"2023","journal-title":"J\u00a0Am Coll Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib60","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.jpeds.2017.06.049","article-title":"Exercise performance and 22q11.2 deletion status affect quality of life in tetralogy of Fallot","volume":"189","author":"Goldmuntz","year":"2017","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib61","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1016\/j.jpeds.2011.02.039","article-title":"Practical guidelines for managing patients with 22q11.2 deletion syndrome","volume":"159","author":"Bassett","year":"2011","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib62","first-page":"264","article-title":"Neurodevelopmental outcomes in tetralogy of Fallot: a systematic review","volume":"9","author":"Kordopati-Zilou","year":"2022","journal-title":"Children (Basel)"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib63","doi-asserted-by":"crossref","first-page":"3184","DOI":"10.1017\/S0033291720005279","article-title":"Within-family influences on dimensional neurobehavioral traits in a high-risk genetic model","volume":"52","author":"Fiksinski","year":"2022","journal-title":"Psychol Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib64","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.biopsych.2023.01.028","article-title":"Impact of copy number variants and polygenic risk scores on psychopathology in the UK Biobank","volume":"94","author":"Mollon","year":"2023","journal-title":"Biol Psychiatry"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib65","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1192\/bjp.2018.301","article-title":"Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank","volume":"214","author":"Kendall","year":"2019","journal-title":"Br J Psychiatry"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib66","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1002\/ajmg.b.32637","article-title":"Association of copy number variation across the genome with neuropsychiatric traits in the general population","volume":"177","author":"Guyatt","year":"2018","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib67","doi-asserted-by":"crossref","first-page":"19m13126","DOI":"10.4088\/JCP.19m13126","article-title":"Association between tetralogy of Fallot and psychiatric disorders: a nationwide cohort study","volume":"82","author":"Hsu","year":"2021","journal-title":"J\u00a0Clin Psychiatry"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib68","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.gde.2021.02.014","article-title":"Copy number variation and neuropsychiatric illness","volume":"68","author":"Rees","year":"2021","journal-title":"Curr Opin Genet Dev"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib69","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1111\/j.1365-2788.2012.01639.x","article-title":"Perceived burden and neuropsychiatric morbidities in adults with 22q11.2 deletion syndrome","volume":"58","author":"Karas","year":"2014","journal-title":"J\u00a0Intellect Disabil Res"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib70","article-title":"Advances in managing transition to adulthood for adolescents with congenital heart disease: a practical approach to transition program design: a scientific statement from the American Heart Association","volume":"11","author":"John","year":"2022","journal-title":"J\u00a0Am Heart Assoc"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib71","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ahj.2010.09.015","article-title":"Patterns of cardiac and extra-cardiac anomalies in adults with tetralogy of Fallot","volume":"161","author":"Piran","year":"2011","journal-title":"Am Heart J"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib72","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1161\/CIRCULATIONAHA.112.126755","article-title":"Abnormal lung function in adults with congenital heart disease: prevalence, relation to cardiac anatomy, and association with survival","volume":"127","author":"Alonso-Gonzalez","year":"2013","journal-title":"Circulation"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib73","article-title":"Abnormal spirometry in adults with 22q11.2 microdeletion and congenital heart disease","volume":"3","author":"Blagojevic","year":"2021","journal-title":"Int J Cardiol Congenital Heart Disease"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib74","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-022-21433-8","article-title":"Significantly increased risk of chronic obstructive pulmonary disease amongst adults with predominantly mild congenital heart disease","volume":"12","author":"Byrne","year":"2022","journal-title":"Sci Rep"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib75","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/j.spinee.2020.01.006","article-title":"The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis","volume":"20","author":"Homans","year":"2020","journal-title":"Spine J"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib76","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1038\/s41436-019-0603-1","article-title":"A\u00a0genetic model for multimorbidity in young adults","volume":"22","author":"Malecki","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib77","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2020.100528","article-title":"22q11.2 microdeletion and increased risk for type 2 diabetes","volume":"26","author":"Van","year":"2020","journal-title":"EClinicalMedicine"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib78","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1530\/EJE-21-1104","article-title":"Hypertriglyceridemia in young adults with a 22q11.2 microdeletion","volume":"187","author":"Blagojevic","year":"2022","journal-title":"Eur J Endocrinol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib79","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1002\/bdr2.1057","article-title":"Effect of concomitant birth defects and genetic anomalies on infant mortality in tetralogy of Fallot","volume":"109","author":"Jernigan","year":"2017","journal-title":"Birth Defects Res"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib80","first-page":"1091","article-title":"Impact of a 22q11.2 microdeletion on adult all-cause mortality in tetralogy of Fallot patients","volume":"36","author":"van Mil","year":"2020","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib81","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.ijcard.2020.02.064","article-title":"22q11.2 deletion syndrome is associated with increased mortality in adults with tetralogy of Fallot and pulmonary atresia with ventricular septal defect","volume":"306","author":"Kauw","year":"2020","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib82","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1001\/jamacardio.2018.4255","article-title":"Long-term outcomes of tetralogy of Fallot: a study from the Pediatric Cardiac Care Consortium","volume":"4","author":"Smith","year":"2019","journal-title":"JAMA Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib83","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1038\/s41436-019-0509-y","article-title":"All-cause mortality and survival in adults with 22q11.2 deletion syndrome","volume":"21","author":"Van","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib84","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.jchf.2022.11.025","article-title":"Approaches to genetic screening in cardiomyopathies: practical guidance for clinicians","volume":"11","author":"Kontorovich","year":"2023","journal-title":"JACC Heart Fail"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib85","doi-asserted-by":"crossref","first-page":"180","DOI":"10.4330\/wjc.v8.i2.180","article-title":"Genetic testing in congenital heart disease: a clinical approach","volume":"8","author":"Chaix","year":"2016","journal-title":"World J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib86","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1038\/ng.3970","article-title":"Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands","volume":"49","author":"Jin","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib87","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1161\/CIRCRESAHA.118.313250","article-title":"Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot","volume":"124","author":"Page","year":"2019","journal-title":"Circ Res"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib88","doi-asserted-by":"crossref","first-page":"957","DOI":"10.3389\/fgene.2020.00957","article-title":"Genes and pathways implicated in tetralogy of Fallot revealed by ultra-rare variant burden analysis in 231 genome sequences","volume":"11","author":"Manshaei","year":"2020","journal-title":"Front Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib89","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.121.003410","article-title":"Clinical genetic risk variants inform a functional protein interaction network for tetralogy of Fallot","volume":"14","author":"Reuter","year":"2021","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib90","doi-asserted-by":"crossref","first-page":"1952","DOI":"10.1038\/s41436-021-01212-y","article-title":"Rare variants in KDR, encoding VEGF receptor 2, are associated with tetralogy of Fallot","volume":"23","author":"Skoric-Milosavljevic","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib91","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1006335","article-title":"Family based whole exome sequencing reveals the multifaceted role of notch signaling in congenital heart disease","volume":"12","author":"Preuss","year":"2016","journal-title":"PLoS Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib92","doi-asserted-by":"crossref","first-page":"942","DOI":"10.1093\/hmg\/ddx009","article-title":"KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5","volume":"26","author":"Darwich","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib93","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1161\/hc4601.098427","article-title":"NKX2.5 mutations in patients with tetralogy of Fallot","volume":"104","author":"Goldmuntz","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib94","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/s41431-022-01077-y","article-title":"Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies","volume":"30","author":"Reuter","year":"2022","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib95","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-020-74650-4","article-title":"Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome","volume":"10","author":"Trevino","year":"2020","journal-title":"Sci Rep"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib96","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/cge.14365","article-title":"Identification of copy number variants with genome sequencing: clinical experiences from the NYCKidSeq program","volume":"104","author":"Bonini","year":"2023","journal-title":"Clin Genet"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib97","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGEN.122.004050","article-title":"Implementation of rapid genome sequencing for critically ill infants with complex congenital heart disease","author":"Hays","year":"2023","journal-title":"Circ Genom Precis Med"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib98","first-page":"115","article-title":"Fetal brain development in congenital heart disease","volume":"39","author":"Peyvandi","year":"2023","journal-title":"Can J Cardiol"},{"key":"10.1016\/j.cjcpc.2023.10.002_bib99","doi-asserted-by":"crossref","first-page":"231","DOI":"10.3390\/brainsci13020231","article-title":"The genetics of intellectual disability","volume":"13","author":"Jansen","year":"2023","journal-title":"Brain Sci"}],"container-title":["CJC Pediatric and Congenital Heart Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2772812923001537?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2772812923001537?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T00:18:20Z","timestamp":1762647500000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2772812923001537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,12]]},"references-count":99,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["S2772812923001537"],"URL":"https:\/\/doi.org\/10.1016\/j.cjcpc.2023.10.002","relation":{},"ISSN":["2772-8129"],"issn-type":[{"value":"2772-8129","type":"print"}],"subject":[],"published":{"date-parts":[[2023,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot","name":"articletitle","label":"Article Title"},{"value":"CJC Pediatric and Congenital Heart Disease","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cjcpc.2023.10.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author(s). Published by Elsevier Inc. on behalf of the Canadian Cardiovascular Society.","name":"copyright","label":"Copyright"}]}}