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Paper Details

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Am J Med Genet C Semin Med Genet
16
2022
Abnormality of prenatal development or birth, HPO, Human, Mendelian conditions, craniofacial malformations, fetal genetic disease, genetic diseases, human, hydrops fetalis, musculoskeletal anomalies, rare diseases
Computational Biology, Exome Sequencing, Female, Humans, Infant, Newborn, Phenotype, Placenta, Pregnancy, Rare Diseases
Author NameAffiliation
Ferdinand DhombresSorbonne University, INSERM, Armand Trousseau Hospital
Patricia MorganAmerican College of Medical Genetics and Genomics
Bimal P ChaudhariInstitute for Genomic Medicine, Nationwide Children's Hospital
Isabel FilgesUniversity Hospital Basel and University of Basel
Teresa N SparksUniversity of California san francisco
Pablo LapunzinaCIBERER and Hospital Universitario La Paz, INGEMM-Institute of Medical and Molecular Genetics
Tony RoscioliUniversity of New South Wales
Umber AgarwalLiverpool Women's NHS Foundation Trust
Shagun AggarwalNizam's Institute of Medical Sciences
Claire BeneteauCHU de Nantes
Pilar CacheiroWilliam Harvey Research Institute, Queen Mary University of London
Leigh C Carmody
Leigh C Carmody
Sophie Collardeau-FrachonUniversity Hospital of Lyon and Soffoet
Esther A DempseySt George's University of London, Molecular and Clinical Sciences Research Institute
Andreas DufkeUniversity of Tubingen, Institute of Medical Genetics and Applied Genomics
Michael H DuyzendBoston Children's Hospital
Mirna El GhoshSorbonne University, INSERM
Jessica GiordanoColumbia University Irving Medical Center
Ragnhild GladUniversity Hospital of North Norway
Ieva GrinfeldeChildren's University Hospital
Dominic Gabriel IliescuUniversity of Medicine and Pharmacy Craiova
Markus S Ladewig
Monica C Munoz-TorresUniversity of Colorado Anschutz Medical Campus
Marzia PollazzonAzienda USL-IRCCS di Reggio Emilia
Francesca Clementina RadioIRCCS
Carlota Rod??Vall d'Hebron Hospital Campus
Raquel Gouveia SilvaHospital Santa Maria, Hospital de Santa Maria, Centro Hospitalar Universitario Lisboa Norte
Damian SmedleyWilliam Harvey Research Institute, Queen Mary University of London
Jagadish Chandrabose Sundaramurthi
Sabrina ToroUniversity of Colorado Anschutz Medical Campus
Irene ValenzuelaHospital Vall d'Hebron, Clinical and Molecular Genetics Area
Nicole VasilevskyUniversity of Colorado Anschutz Medical Campus
Nicole VasilevskyUniversity of Colorado Anschutz Medical Campus
Ronald J WapnerColumbia University Irving Medical Center
Roni ZemetBaylor College of Medicine
Melissa A HaendelUniversity of Colorado Anschutz Medical Campus
Melissa A HaendelUniversity of Colorado Anschutz Medical Campus
Peter N Robinson
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Datasets

Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink