The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Author:

Pisan Elise1ORCID,De Luca Chiara2,Brancati Francesco23,Sanchez Russo Rossana4ORCID,Li Dong567,Bhoj Elizabeth567ORCID,Wenger Tara8,Marwaha Ashish9,Johnson Nicole9,Beneteau Claire10,Brischoux-Boucher Elise11,Houge Gunnar12,Paulsen Julie13,Hammer Trine Bjørg1415,Ek Jakob15,Schweitzer Daniela16,Russell Bianca E.16,Dutra-Clarke Marina16,Nelson Stanley16,Douine Emilie D.16,Corona Rosario I.16,Dudding Tracy17,Thomson Hannah17,Low Karen18,Belnap Newell19,Iascone Maria20,Priolo Manuela21,Carli Diana2223ORCID,Mussa Alessandro24,Bijlsma Emilia K.25,Kopp Nathan26,Jais Jean-Philippe27,Amiel Jeanne128,Gordon Christopher T.1ORCID

Affiliation:

1. Laboratory of embryology and genetics of human malformations, INSERM Unité Mixte de Recherche 1163, Institut Imagine and Université Paris Cité, Paris 75015, France

2. Human Genetics, Department of Life, Health and Environmental Sciences, University of L’Aquila, Coppito 67100, L’Aquila, Italy

3. Human Functional Genomics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome 00163, Italy

4. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322

5. Center for Applied Genomics, Children’s Hospital of Philadelphia, Philadelphia, PA 19104

6. Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104

7. Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104

8. Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98105

9. Alberta Children’s Hospital, University of Calgary, Calgary, AB T2N 4N1, Canada

10. Service de Génétique Médicale, Centre Hospitalo-Universitaire de Bordeaux, Bordeaux F-33000, France

11. Centre de Génétique Humaine, Centre Hospitalo-Universitaire de Besançon, Besançon 25000, France

12. Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway

13. Department of Medical Genetics, St. Olavs Hospital, Trondheim University Hospital, Trondheim 7006, Norway

14. Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark

15. Department of Genetics, Rigshospitalet, Copenhagen 2100, Denmark

16. Department of Human Genetics, David Geffen School of Medicine at University of California Los Angeles, Los Angeles, CA 90095

17. Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia

18. Department of Clinical Genetics, St. Michaels Hospital, University Hospitals Bristol and Weston National Health Service Trust, Bristol BS2 8EJ, United Kingdom

19. Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012

20. Medical Genetics Laboratory, Azienda Sociosanitaria Territoriale Papa Giovanni XXIII, Bergamo 24127, Italy

21. Unit of Medical Genetics, Azienda Ospedaliera di Rilievo Nazionale Cardarelli, Naples 80131, Italy

22. Department of Medical Sciences, University of Torino, Torino 10124, Italy

23. Immunogenetics and Transplant Biology Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy

24. Pediatric Clinical Genetics Unit, Ospedale Infantile Regina Margherita, Department of Public Health and Pediatric Sciences, University of Torino, Torino 10126, Italy

25. Department of Clinical Genetics, Leiden University Medical Centre, 2300 RC Leiden, the Netherlands

26. Department of Pathology, Medical College of Wisconsin, Milwaukee, WI 53223

27. Biostatistics Unit, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France

28. Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris 75015, France

Funder

Mutuelles AXA

Agence Nationale de la Recherche

Merck & Co. | MSD France | MSDAVENIR

HHS | NIH | National Center for Advancing Translational Sciences

Publisher

Proceedings of the National Academy of Sciences

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1. Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease;Proceedings of the National Academy of Sciences;2024-03-11

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