Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans

Author:

Guimier Anne12,de Pontual Loïc1,Braddock Stephen R3,Torti Erin4,Pérez-Jurado Luis A567,Muñoz-Cabello Patricia5,Arumí Montserrat8,Monaghan Kristin G4,Lee Hane910,Wang Lee-kai11,Pluym Ilina D12,Lynch Sally Ann13,Stals Karen14,Ellard Sian1415,Muller Cécile1,Houyel Lucile16,Cohen Laurence17,Lyonnet Stanislas12,Bajolle Fanny16,Amiel Jeanne12,Gordon Christopher T1ORCID

Affiliation:

1. Laboratory of Embryology and Genetics of Human Malformations, INSERM U1163, Université de Paris , Institut Imagine, 75015 Paris , France

2. Service de Médecine Génomique des Maladies Rares, APHP.CUP, Hôpital Necker-Enfants Malades , 75015 Paris , France

3. Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine , St. Louis, MO 63104 , USA

4. GeneDx , Gaithersburg, MD 20877 , USA

5. Servicio de Genética, Hospital del Mar, Programa de Neurociencias, Instituto Hospital del Mar de Investigaciones Médicas (IMIM) , 08003 Barcelona , Spain

6. Unidad de Genética, Universitat Pompeu Fabra , 08002 Barcelona , Spain

7. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) , 08003 Barcelona , Spain

8. Servicio de Patología, Hospital del Mar , 08003 Barcelona , Spain

9. Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles , Los Angeles, CA 90095 , USA

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

11. Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles , Los Angeles, CA 90095 , USA

12. Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California , Los Angeles, Los Angeles, CA 90095 , USA

13. Children’s Health Ireland at Crumlin , Dublin D12 N512 , Ireland

14. Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust , Exeter EX2 5DW , UK

15. Institute of Biomedical and Clinical Science, University of Exeter Medical School , Exeter EX2 5DW , UK

16. M3C-Necker, Centre de Référence Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Universitaire Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris , 75015 Paris , France

17. ETCC , 91300 Massy , France

Funder

Agence Nationale de la Recherche

MSDAvenir

Spanish Ministry of Science and Innovation

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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