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

Y.J. Zhao, A. Diacou, H.R. Johnston, F.I. Musfee, D.M. McDonald-McGinn, D. McGinn, T.B. Crowley, G.M. Repetto, A. Swillen, J. Breckpot, J.R. Vermeesch, W.R. Kates, M.C. Digilio, M. Unolt, B. Marino, M. Pontillo, M. Armando, F. Di Fabio, S. Vicari, M. van den BreeH. Moss, M.J. Owen, K.C. Murphy, C.M. Murphy, D. Murphy, K. Schoch, V. Shashi, F. Tassone, T.J. Simon, R.J. Shprintzen, L. Campbell, N. Philip, D. Heine-Suner, S. Garcia-Minaur, L. Fernandez, C.E. Bearden, C. Vingerhoets, T. van Amelsvoort, S. Eliez, M. Schneider, J.A.S. Vorstman, D. Gothelf, E. Zackai, A.J. Agopian, R.E. Gur, A.S. Bassett, B.S. Emanuel, E. Goldmuntz, L.E. Mitchell, T. Wang, International 22q11.2 Brain and Behavior Consortium

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)26-40
Number of pages15
JournalAmerican Journal of Human Genetics
Volume106
Issue number1
DOIs
Publication statusPublished - 2 Jan 2020

Keywords

  • association
  • cardio-facial syndrome
  • crkl
  • ii deficiency
  • low-copy repeats
  • molecular definition
  • prediction
  • prevalence
  • tbx1 haploinsufficiency
  • variants
  • LOW-COPY REPEATS
  • VARIANTS
  • II DEFICIENCY
  • PREVALENCE
  • MOLECULAR DEFINITION
  • CRKL
  • PREDICTION
  • TBX1 HAPLOINSUFFICIENCY
  • ASSOCIATION
  • CARDIO-FACIAL SYNDROME

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