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

  • Yingjie Zhao
  • , Alexander Diacou
  • , H. Richard Johnston
  • , Fadi I. Musfee
  • , Donna M. McDonald-McGinn
  • , Daniel McGinn
  • , T. Blaine Crowley
  • , Gabriela M. Repetto
  • , Ann Swillen
  • , Jeroen Breckpot
  • , Joris R. Vermeesch
  • , Wendy R. Kates
  • , M. Cristina Digilio
  • , Marta Unolt
  • , Bruno Marino
  • , Maria Pontillo
  • , Marco Armando
  • , Fabio Di Fabio
  • , Stefano Vicari
  • , Marianne van den Bree
  • Hayley Moss, Michael J. Owen, Kieran C. Murphy, Clodagh M. Murphy, Declan Murphy, Kelly Schoch, Vandana Shashi, Flora Tassone, Tony J. Simon, Robert J. Shprintzen, Linda Campbell, Nicole Philip, Damian Heine-Suñer, Sixto García-Miñaúr, Luis Fernández, Stylianos E. Antonarakis, Massimo Biondi, Erik Boot, Elemi Breetvelt, Tiffany Busa, Nancy Butcher, Antonino Buzzanca, Miri Carmel, Isabelle Cleynen, David Cutler, Bruno Dallapiccola, María Angeles de la Fuente Sanches, Michael P. Epstein, Rens Evers, Guido Lattanzi
  • Yeshiva University
  • Emory University School of Medicine
  • University of Texas School of Public Health
  • The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • University of Pennsylvania
  • Universidad del Desarrollo
  • Center for Human Genetics
  • SUNY Upstate Medical University
  • Bambino Gesù Children's Hospital IRCCS, Rome, Italy
  • School of Medicine
  • Global Health Institute
  • Università Cattolica del Sacro Cuore
  • Cardiff Law School
  • Royal College of Surgeons of Ireland
  • NatBrainLab
  • King's College London
  • NHS National Health Service
  • Duke University
  • University of California, Davis
  • The Virtual Center for Velo-Cardio-Facial Syndrome and Related Disorders
  • School of Psychology
  • University of Newcastle, Australia
  • Aix-Marseille University
  • Balearic Health Service
  • Hospital Universitario La Paz

Research output: Contribution to journalArticlepeer-review

60 Citations (Scopus)

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