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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Nov 20, 2023

ABOUT THE EXPERTS

  • Corrine Smolen

    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.

    Matthew Jensen

    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.

    Lisa Dyer

    GeneDx, Gaithersburg, MD 20877, USA.

    Lucilla Pizzo

    Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

    Anastasia Tyryshkina

    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.

    Deepro Banerjee

    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.

    Laura Rohan

    Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

    Emily Huber

    Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.

    Laila El Khattabi

    Assistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France.

    Paolo Prontera

    Medical Genetics Unit, Hospital “Santa Maria della Misericordia”, Perugia, Italy.

    Jean-Hubert Caberg

    Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.

    Anke Van Dijck

    Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.

    Charles Schwartz

    Greenwood Genetic Center, Greenwood, SC 29646, USA.

    Laurence Faivre

    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.

    Patrick Callier

    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.

    Anne-Laure Mosca-Boidron

    Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France.

    Mathilde Lefebvre

    GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.

    Kate Pope

    Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

    Penny Snell

    Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.

    Paul J Lockhart

    Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children’s Research Institute, Melbourne, VIC, Australia.

    Lucia Castiglia

    Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

    Ornella Galesi

    Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

    Emanuela Avola

    Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

    Teresa Mattina

    Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.

    Marco Fichera

    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.

    Giuseppa Maria Luana Mandarà

    Medical Genetics, ASP Ragusa, Ragusa, Italy.

    Maria Grazia Bruccheri

    Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.

    Olivier Pichon

    CHU Nantes, Department of Medical Genetics, Nantes, France.

    Cedric Le Caignec

    CHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.

    Radka Stoeva

    Service de Cytogenetique, CHU de Le Mans, Le Mans, France.

    Silvestre Cuinat

    CHU Nantes, Department of Medical Genetics, Nantes, France.

    Sandra Mercier

    CHU Nantes, Department of Medical Genetics, Nantes, France.

    Claire Bénéteau

    CHU Nantes, Department of Medical Genetics, Nantes, France.

    Sophie Blesson

    Department of Genetics, Bretonneau University Hospital, Tours, France.

    Ashley Nordsletten

    Department of Psychiatry, University of Michigan, Ann Arbor, MI, USA.

    Dominique Martin-Coignard

    Department of Genetics, Bretonneau University Hospital, Tours, France.

    Erik Sistermans

    Department of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands.

    R Frank Kooy

    Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.

    David J Amor

    Bruce Lefroy Center, Murdoch Children’s Research Institute, Melbourne, VIC, Australia.

    Corrado Romano

    Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy.

    Bertrand Isidor

    CHU Nantes, Department of Medical Genetics, Nantes, France.

    Jane Juusola

    GeneDx, Gaithersburg, MD 20877, USA.

    Santhosh Girirajan

    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, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.

REFERENCES & ADDITIONAL READING

PubMed

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