A

Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum

European Journal of Human Genetics, vol. 33, pp. 131–136

Authors 17

  1. Véronique Pingault corresponding

    Hôpital Necker-Enfants Malades · Inserm · Université Paris Cité · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine

    Affiliation as printed

    Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France. veronique.pingault@inserm.fr

    Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France. veronique.pingault@inserm.fr

    Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France. veronique.pingault@inserm.fr

  2. Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris

    Affiliation as printed

    Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France

  3. Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris

    Affiliation as printed

    Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France

  4. Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari

    Affiliation as printed

    Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain

    Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain

  5. Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari

    Affiliation as printed

    Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain

    Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain

  6. Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari

    Affiliation as printed

    Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain

    Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain

  7. Leiden University Medical Center

    Affiliation as printed

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

  8. Leiden University Medical Center

    Affiliation as printed

    Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands

  9. Centre Hospitalier du Mans

    Affiliation as printed

    Department of Medical Genetics, Le Mans Hospital, Le Mans, France

  10. Miami Children's Hospital

    Affiliation as printed

    Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA

  11. Belfast City Hospital

    Affiliation as printed

    Medical Genetics Dept, Belfast City Hospital, Belfast, BT9 7AB, UK

  12. Affiliation as printed

    GeneDx, Gaithersburg, MD, USA

  13. Children's Hospital of Philadelphia · University of Pennsylvania

    Affiliation as printed

    Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA

  14. Inserm · Université Paris Cité · Institut des Maladies Génétiques Imagine · Structure fédérative de recherche Necker

    Affiliation as printed

    Bioinformatic Platform, Institute of Genetic Diseases, INSERM UMR1163, Institut Imagine, Université Paris-Cité and Structure Fédérative de Recherche Necker, 75015, Paris, France

  15. Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris

    Affiliation as printed

    Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France

  16. Centre National de la Recherche Scientifique · Commissariat à l'Énergie Atomique et aux Énergies Alternatives · Université Paris-Saclay · Institut de Biologie Intégrative de la Cellule

    Affiliation as printed

    Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), Institute Joliot, Gif-sur-Yvette, France

  17. Hôpital Necker-Enfants Malades · Inserm · Université Paris Cité · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine

    Affiliation as printed

    Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France

    Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France

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References 18

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