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

Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype‐driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive me...

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Detalles Bibliográficos
Autores principales: Dhombres, Ferdinand, Morgan, Patricia, Chaudhari, Bimal P., Filges, Isabel, Sparks, Teresa N., Lapunzina, Pablo, Roscioli, Tony, Agarwal, Umber, Aggarwal, Shagun, Beneteau, Claire, Cacheiro, Pilar, Carmody, Leigh C., Collardeau‐Frachon, Sophie, Dempsey, Esther A., Dufke, Andreas, Duyzend, Michael Henri, el Ghosh, Mirna, Giordano, Jessica L., Glad, Ragnhild, Grinfelde, Ieva, Iliescu, Dominic G., Ladewig, Markus S., Munoz‐Torres, Monica C., Pollazzon, Marzia, Radio, Francesca Clementina, Rodo, Carlota, Silva, Raquel Gouveia, Smedley, Damian, Sundaramurthi, Jagadish Chandrabose, Toro, Sabrina, Valenzuela, Irene, Vasilevsky, Nicole A., Wapner, Ronald J., Zemet, Roni, Haendel, Melissa A, Robinson, Peter N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9588534/
https://www.ncbi.nlm.nih.gov/pubmed/35872606
http://dx.doi.org/10.1002/ajmg.c.31989

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