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

Dhombres, F., Morgan, P., Chaudhari, B. P., Filges, I., Sparks, T. N., Lapunzina, P., Roscioli, T., Agarwal, U., Aggarwal, S., Beneteau, C., Cacheiro, P., Carmody, L. C., Collardeau‐Frachon, S., Dempsey, E. A., Dufke, A., Duyzend, M. H., el Ghosh, M., Giordano, J. L., Glad, R., … Robinson, P. N. (2022). Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190(2), 231–242. Portico. https://doi.org/10.1002/ajmg.c.31989
Authors:
Ferdinand Dhombres
Patricia Morgan
Bimal P Chaudhari
Isabel Filges
Teresa N Sparks
Pablo Lapunzina
Tony Roscioli
Umber Agarwal
Shagun Aggarwal
Claire Beneteau
Pilar Cacheiro
Leigh C Carmody
Sophie Collardeau-Frachon
Esther A Dempsey
Andreas Dufke
Michael Henri Duyzend
Mirna El Ghosh
Jessica L Giordano
Ragnhild Glad
Ieva Grinfelde
Dominic G Iliescu
Markus S Ladewig
Monica C Munoz-Torres
Marzia Pollazzon
Francesca Clementina Radio
Carlota Rodo
Raquel Gouveia Silva
Damian Smedley
Jagadish Chandrabose Sundaramurthi
Sabrina Toro
Irene Valenzuela
Nicole A Vasilevsky
Ronald J Wapner
Roni Zemet
Melissa A Haendel
Peter N Robinson
Affiliated Authors:
Jessica L Giordano
Ronald J Wapner
Columbia Affiliation:
Subjects:
Prenatal Aneuploidy Diagnosis and Screening Techniques (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Ethical Considerations in Medical Research Participation (OpenAlex Topic)
Placenta (MeSH)
Computational Biology (MeSH)
Author Keywords:
fetal pathology
ga4gh phenopacket
hpo
human phenotype ontology
prenatal diagnosis
prenatal phenotyping
elink
Publication Type:
Article
Unique ID:
10.1002/ajmg.c.31989
PMID:
35872606
DOI:
10.1002/ajmg.c.31989
Journal:
American Journal of Medical Genetics: Part C, Seminars in Medical Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Web of Science Record
View OpenAlex Record
View Scopus Record

Record Created: