Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

• Pizzo L Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Jensen M Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Polyak A Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Rosenfeld JA Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
• Mannik K Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
• Krishnan A Department of Computational Mathematics, Science and Engineering, Michigan State University, East Lansing, MI, USA.
• McCready E Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
• Pichon O CHU Nantes, Medical genetics department, Nantes, France.
• Le Caignec C CHU Nantes, Medical genetics department, Nantes, France.
• Van Dijck A Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
• Pope K Department of Paediatrics, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Melbourne, Australia.
• Voorhoeve E Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
• Yoon J Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Stankiewicz P Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
• Cheung SW Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
• Pazuchanics D Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Huber E Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Kumar V Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA.
• Kember RL Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
• Mari F Medical Genetics, University of Siena, Siena, Italy.
• Curró A Medical Genetics, University of Siena, Siena, Italy.
• Castiglia L Oasi Research Institute-IRCCS, Troina, Italy.
• Galesi O Oasi Research Institute-IRCCS, Troina, Italy.
• Avola E Oasi Research Institute-IRCCS, Troina, Italy.
• Mattina T Medical Genetics, University of Catania School of Medicine, Catania, Italy.
• Fichera M Oasi Research Institute-IRCCS, Troina, Italy.
• Mandarà L Medical Genetics, ASP Ragusa, Ragusa, Italy.
• Vincent M CHU Nantes, Medical genetics department, Nantes, France.
• Nizon M CHU Nantes, Medical genetics department, Nantes, France.
• Mercier S CHU Nantes, Medical genetics department, Nantes, France.
• Bénéteau C CHU Nantes, Medical genetics department, Nantes, France.
• Blesson S Department of genetics, Bretonneau university hospital, Tours, France.
• Martin-Coignard D Service de Cytogenetique, CHU de Le Mans, Le Mans, France.
• Mosca-Boidron AL Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France.
• Caberg JH Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.
• Bucan M Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
• Zeesman S McMaster University, Hamilton, Ontario, Canada.
• Nowaczyk MJM McMaster University, Hamilton, Ontario, Canada.
• Lefebvre M Centre de Genetique. Hopital d'Enfants Dijon, Dijon, France.
• Faivre L Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.
• Callier P Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France.
• Skinner C Greenwood Genetic Center, Greenwood, SC, USA.
• Keren B Hopital La Pitie Salpetriere, Paris, France.
• Perrine C Hopital La Pitie Salpetriere, Paris, France.
• Prontera P Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
• Marle N Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France.
• Renieri A Medical Genetics, University of Siena, Siena, Italy.
• Reymond A Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland.
• Kooy RF Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
• Isidor B CHU Nantes, Medical genetics department, Nantes, France.
• Schwartz C Greenwood Genetic Center, Greenwood, SC, USA.
• Romano C Oasi Research Institute-IRCCS, Troina, Italy.
• Sistermans E Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
• Amor DJ Department of Paediatrics, Royal Children's Hospital, Murdoch Children's Research Institute and University of Melbourne, Melbourne, Australia.
• Andrieux J Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France.
• Girirajan S Department of Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, PA, USA. sxg47@psu.edu.

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16p11.2 deletion

CNV

autism

modifier

phenotypic variability

Autistic Disorder

Cell Adhesion Molecules, Neuronal

Chromosomes, Human, Pair 16

Cognition

Cytoskeletal Proteins

DNA Copy Number Variations

Female

Gene Expression Regulation

Genetic Background

Genetic Carrier Screening

Humans

Male

Methyltransferases

Nerve Tissue Proteins

Parents

Pedigree

Phenotype

Proteins

Sequence Deletion

Siblings

Transcription Factors