Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Yingjie ZhaoAlexander DiacouH. Richard JohnstonFadi I. MusfeeDonna M. McDonald-McGinnDaniel McGinnT. Blaine CrowleyREPETTO LISBOA, MARIA GABRIELAMARIA GABRIELAREPETTO LISBOAAnn SwillenJeroen BreckpotJoris R. VermeeschWendy R. KatesM. Cristina DigilioMarta UnoltBruno MarinoMaria PontilloMarco ArmandoFabio Di FabioStefano VicariMarianne van den BreeHayley MossMichael J. OwenKieran C. MurphyClodagh M. MurphyDeclan MurphyKelly SchochVandana ShashiFlora TassoneTony J. SimonRobert J. ShprintzenLinda CampbellNicole PhilipDamian Heine-SuñerSixto García-MiñaúrLuis FernándezCarrie E. BeardenClaudia VingerhoetsTherese van AmelsvoortStephan EliezMaude SchneiderJacob A.S. VorstmanDoron GothelfElaine ZackaiA.J. AgopianRaquel E. GurAnne S. BassettBeverly S. EmanuelElizabeth GoldmuntzLaura E. MitchellTao WangBernice E. MorrowStylianos E. AntonarakisMassimo BiondiErik BootElemi BreetveltTiffany BusaNancy ButcherAntonino BuzzancaMiri CarmelIsabelle CleynenDavid CutlerBruno DallapiccolaMaría Angeles de la Fuente SanchesMichael P. EpsteinRens EversLuis FernandezRosemarie FritschFernando García AlgasTingwei GuoRaquel GurMatthew S. HestandTracy HeungStephen HooperAndrea JinLeila Kushan-WellsAlejandra Teresa Laorden-NietoGuido LattanziChristian MarshallKathryn McCabeElena MichaelovskyClaudia OrnsteinCandice SilversidesOanh TranEsther D.A. van DuinElfi VergaelenSteve T. WarrenRonnie WeinbergerAbraham WeizmanZhengdong ZhangMichael Zwick2022-09-212022-09-212020Zhao, Y., Diacou, A., Johnston, H. R., Musfee, F. I., McDonald-McGinn, D. M., McGinn, D., Crowley, T. B., Repetto, G. M., Swillen, A., Breckpot, J., Vermeesch, J. R., Kates, W. R., Digilio, M. C., Unolt, M., Marino, B., Pontillo, M., Armando, M., Di Fabio, F., Vicari, S., … Zwick, M. (2020). Complete sequence of the 22q11. 2 allele in 1,053 subjects with 22q11. 2 deletion syndrome reveals modifiers of conotruncal heart defects. The American Journal of Human Genetics, 106(1), 26-40. https://doi.org/10.1016/j.ajhg.2019.11.010http://hdl.handle.net/11447/4133https://investigadores.udd.cl/handle/123456789/234010.1016/j.ajhg.2019.11.0102-s2.0-85077046877WOS:000505170800003cardio-facial syndromelow-copy repeatstbx1 haploinsufficiencymolecular definitionii deficiencyassociationvariantscrklprevalenceprediction22q11.2 deletion syndromeallelearticlechromosome deletion 22q11cohort analysiscontrolled studycrkl geneenhancer regionexpression quantitative trait locusfemalegene controlgene expressiongene inactivationgene linkage disequilibriumgene locationgene sequencegene targetinggenetic associationgenetic riskgenetic variabilitygenome-wide association studyheart diseasehemizygotehigh risk patienthumanmajor clinical studymalemolecular pathologypenetrancepopulation geneticspredictionpriority journalproto oncogenerisk assessmentsyndromeComplete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart DefectsResource Types::text::journal::journal article