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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; El Khattabi, Laila; Prontera, Paolo; Caberg, Jean-Hubert; Van Dijck, Anke; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Luana Mandarà, Giuseppa Maria; Bruccheri, Maria Grazia; Pichon, Olivier; Le Caignec, Cedric; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Bénéteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R Frank; Amor, David J; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh.
Affiliation
  • Smolen C; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
  • Jensen M; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
  • Dyer L; GeneDx, Gaithersburg, MD 20877, USA.
  • Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
  • Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA.
  • Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
  • Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
  • Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
  • El Khattabi L; Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France.
  • Prontera P; Medical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
  • Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.
  • Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
  • Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA.
  • Faivre L; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
  • Callier P; Centre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
  • Mosca-Boidron AL; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France.
  • Lefebvre M; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
  • Pope K; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Snell P; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
  • Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Mattina T; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
  • Fichera M; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
  • Luana Mandarà GM; Medical Genetics, ASP Ragusa, Ragusa, Italy.
  • Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
  • Pichon O; CHU Nantes, Department of Medical Genetics, Nantes, France.
  • Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.
  • Stoeva R; Service de Cytogenetique, CHU de Le Mans, Le Mans, France.
  • Cuinat S; CHU Nantes, Department of Medical Genetics, Nantes, France.
  • Mercier S; CHU Nantes, Department of Medical Genetics, Nantes, France.
  • Bénéteau C; CHU Nantes, Department of Medical Genetics, Nantes, France.
  • Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France.
  • Nordsletten A; Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.
  • Martin-Coignard D; Department of Genetics, Bretonneau University Hospital, Tours, France.
  • Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands.
  • Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
  • Amor DJ; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Romano C; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy.
  • Isidor B; CHU Nantes, Department of Medical Genetics, Nantes, France.
  • Juusola J; GeneDx, Gaithersburg, MD 20877, USA.
  • Girirajan S; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park,
Am J Hum Genet ; 110(12): 2015-2028, 2023 Dec 07.
Article in En | MEDLINE | ID: mdl-37979581
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Bipolar Disorder Limits: Child / Humans Language: En Journal: Am J Hum Genet Year: 2023 Type: Article Affiliation country: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Bipolar Disorder Limits: Child / Humans Language: En Journal: Am J Hum Genet Year: 2023 Type: Article Affiliation country: United States