Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Author:

Dhombres Ferdinand1ORCID,Morgan Patricia2,Chaudhari Bimal P.3,Filges Isabel4ORCID,Sparks Teresa N.5,Lapunzina Pablo6,Roscioli Tony7,Agarwal Umber8,Aggarwal Shagun9,Beneteau Claire10,Cacheiro Pilar11,Carmody Leigh C.12ORCID,Collardeau‐Frachon Sophie13,Dempsey Esther A.14,Dufke Andreas15,Duyzend Michael Henri16ORCID,el Ghosh Mirna17,Giordano Jessica L.18,Glad Ragnhild19,Grinfelde Ieva20,Iliescu Dominic G.21,Ladewig Markus S.22ORCID,Munoz‐Torres Monica C.23,Pollazzon Marzia24ORCID,Radio Francesca Clementina25ORCID,Rodo Carlota26,Silva Raquel Gouveia27,Smedley Damian11,Sundaramurthi Jagadish Chandrabose12ORCID,Toro Sabrina23ORCID,Valenzuela Irene28,Vasilevsky Nicole A.23,Wapner Ronald J.18,Zemet Roni29,Haendel Melissa A23,Robinson Peter N.12ORCID

Affiliation:

1. Sorbonne University, GRC26, INSERM, Limics, Armand Trousseau Hospital, Fetal Medicine Department, APHP Paris France

2. American College of Medical Genetics and Genomics, Newborn Screening Translational Research Network Bethesda Maryland USA

3. Institute for Genomic Medicine Nationwide Children's Hospital Columbus Ohio USA

4. University Hospital Basel and University of Basel, Medical Genetics Basel Switzerland

5. Department of Obstetrics, Gynecology, & Reproductive Sciences University of California, San Francisco San Francisco California USA

6. CIBERER and Hospital Universitario La Paz, INGEMM‐Institute of Medical and Molecular Genetics Madrid Spain

7. Neuroscience Research Australia (NeuRA), University of New South Wales Sydney New South Wales Australia

8. Department of Maternal and Fetal Medicine Liverpool Women's NHS Foundation Trust Liverpool UK

9. Department of Medical Genetics Nizam's Institute of Medical Sciences Hyderabad Telangana India

10. Service de Génétique Médicale, UF 9321 de Fœtopathologie et Génétique, CHU de Nantes Nantes France

11. William Harvey Research Institute Queen Mary University of London London UK

12. Department of Genomic Medicine The Jackson Laboratory Farmington Connecticut USA

13. Department of Pathology University Hospital of Lyon and Soffoet Lyon France

14. St George's University of London, Molecular and Clinical Sciences Research Institute London UK

15. University of Tübingen, Institute of Medical Genetics and Applied Genomics Tübingen Germany

16. Department of Pediatrics Boston Children's Hospital Boston/Cambridge Massachusetts USA

17. Sorbonne University, INSERM, LIMICS Paris France

18. Department of Obstetrics and Gynecology Columbia University Irving Medical Center New York New York USA

19. Department of Obstetrics and Gynecology University Hospital of North Norway Tromsø Norway

20. Department of Medical Genetics and Prenatal diagnosis Children's University Hospital Riga Latvia

21. Department of Obstetrics and Gynecology University of Medicine and Pharmacy Craiova Craiova Dolj Romania

22. Department of Ophthalmology Klinikum Saarbrücken Saarbrücken Saarland Germany

23. Department of Biochemistry and Molecular Genetics University of Colorado Anschutz Medical Campus Aurora Colorado USA

24. Azienda USL‐IRCCS di Reggio Emilia Medical Genetics Unit Reggio Emilia Italy

25. Genetics and Rare Diseases Research Division, IRCCS Ospedale Pediatrico Bambino Gesù Rome Italy

26. Vall d'Hebron Hospital Campus, Maternal & Fetal Medicine Barcelona Spain

27. Hospital Santa Maria, Serviço de Genética, Departamento de Pediatria Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Centro Académico de Medicina de Lisboa Lisboa Portugal

28. Hospital Vall d'Hebron, Clinical and Molecular Genetics Area Barcelona Spain

29. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

Funder

European Commission

National Human Genome Research Institute

NIH Office of the Director

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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3. Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders;Prenatal Diagnosis;2024-08-13

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