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

• Zhao Y Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
• Diacou A Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
• Johnston HR Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
• Musfee FI Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas 77225, USA.
• McDonald-McGinn DM Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.
• McGinn D Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.
• Crowley TB Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.
• Repetto GM Center for Genetics and Genomics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago 7710162, Chile.
• Swillen A Center for Human Genetics, University of Leuven (KU Leuven), Leuven 3000, Belgium.
• Breckpot J Center for Human Genetics, University of Leuven (KU Leuven), Leuven 3000, Belgium.
• Vermeesch JR Center for Human Genetics, University of Leuven (KU Leuven), Leuven 3000, Belgium.
• Kates WR Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY 13202, USA; Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY 13202, USA.
• Digilio MC Department of Medical Genetics, Bambino Gesù Hospital, Rome 00165, Italy.
• Unolt M Department of Medical Genetics, Bambino Gesù Hospital, Rome 00165, Italy; Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University of Rome, Rome 00185, Italy.
• Marino B Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University of Rome, Rome 00185, Italy.
• Pontillo M Department of Neuroscience, Bambino Gesù Hospital, Rome 00165, Italy.
• Armando M Department of Neuroscience, Bambino Gesù Hospital, Rome 00165, Italy; Developmental Imaging and Psychopathology Lab, University of Geneva, Geneva 1211, Switzerland.
• Di Fabio F Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University of Rome, Rome 00185, Italy.
• Vicari S Department of Neuroscience, Bambino Gesù Hospital, Rome 00165, Italy; Department of Psychiatry, Catholic University, Rome 00153, Italy.
• van den Bree M Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Wales CF24 4HQ, UK.
• Moss H Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Wales CF24 4HQ, UK.
• Owen MJ Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Wales CF24 4HQ, UK.
• Murphy KC Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin 505095, Ireland.
• Murphy CM Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology, and Neuroscience, London SE5 8AF, UK; Behavioural and Developmental Psychiatry Clinical Academic Group, Behavioural Genetics Clinic, National Adult Autism and ADHD Service, South London and Maudsley Foundation National Health Service Trust, London SE5 8AZ, UK.
• Murphy D Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology, and Neuroscience, London SE5 8AF, UK; Behavioural and Developmental Psychiatry Clinical Academic Group, Behavioural Genetics Clinic, National Adult Autism and ADHD Service, South London and Maudsley Foundation National Health Service Trust, London SE5 8AZ, UK.
• Schoch K Department of Pediatrics, Duke University, Durham, NC 27710, USA.
• Shashi V Department of Pediatrics, Duke University, Durham, NC 27710, USA.
• Tassone F Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California, Davis, CA 95817, USA.
• Simon TJ Department of Psychiatry and Behavioral Sciences, MIND Institute, University of California, Davis, CA 95817, USA.
• Shprintzen RJ The Virtual Center for Velo-Cardio-Facial Syndrome, Syracuse, NY 13206, USA.
• Campbell L School of Psychology, University of Newcastle, Newcastle 2258, Australia.
• Philip N Department of Medical Genetics, Aix-Marseille University, Marseille 13284, France.
• Heine-Suñer D Genomics of Health and Unit of Molecular Diagnosis and Clinical Genetics, Son Espases University Hospital, Balearic Islands Health Research Institute, Palma de Mallorca 07120, Spain.
• García-Miñaúr S Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046, Spain.
• Fernández L Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046, Spain.
• Bearden CE Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA 90095, USA.
• Vingerhoets C Department of Psychiatry and Psychology, Maastricht University, Maastricht, 6200 MD, the Netherlands.
• van Amelsvoort T Department of Psychiatry and Psychology, Maastricht University, Maastricht, 6200 MD, the Netherlands.
• Eliez S Developmental Imaging and Psychopathology Lab, University of Geneva, Geneva 1211, Switzerland.
• Schneider M Developmental Imaging and Psychopathology Lab, University of Geneva, Geneva 1211, Switzerland.
• Vorstman JAS Program in Genetics and Genome Biology, Research Institute, Toronto, Ontario, Canada; Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto, Ontario, M5S 1A1, Canada; Department of Psychiatry, University Medical Center Utrecht Brain Center, Utrecht, 3584 CG, the Netherlands.
• Gothelf D The Child Psychiatry Unit, Edmond and Lily Sapfra Children's Hospital, Sackler Faculty of Medicine, Tel Aviv University and Sheba Medical Center, Tel Aviv, 52621, Israel.
• Zackai E Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.
• Agopian AJ Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas 77225, USA.
• Gur RE Department of Psychiatry, Perelman School of Medicine of the University of Pennsylvania Philadelphia, PA 19104, USA; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
• Bassett AS Dalglish Family 22q Clinic, Clinical Genetics Research Program, Toronto M5T 1L8, Ontario Canada; Toronto General Hospital, Centre for Addiction and Mental Health, Toronto M5T 1L8, Ontario, Canada; Department of Psychiatry, University of Toronto, Toronto M5T 1L8, Ontario, Canada.
• Emanuel BS Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia 19104, USA.
• Goldmuntz E Division of Cardiology, Children's Hospital of Philadelphia Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
• Mitchell LE Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas 77225, USA.
• Wang T Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
• Morrow BE Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA. Electronic address: bernice.morrow@einsteinmed.org.

Show more…

CRKL

DiGeorge syndrome

TBX1

chromosome 22q11.2 deletion syndrome

complex trait

congenital heart disease

conotruncal heart defects

copy number variation

genetic association

genetic modifier

haploinsufficiency

Case-Control Studies

Chromosome Deletion

Chromosomes, Human, Pair 22

Cohort Studies

Female

Genome-Wide Association Study

Heart Defects, Congenital

Humans

Linkage Disequilibrium

Male

Phenotype

Polymorphism, Single Nucleotide

Segmental Duplications, Genomic