ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format
Lucas W. Gauthier, Marjolaine Willems, Nicolas Chatron, Camille Cenni et autres
2 citationsNAR Genomics and Bioinformatics
Camille Cenni
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9Publications signalées
125Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genomics and Rare DiseasesRNA and protein synthesis mechanismsRNA Research and SplicingGenomic variations and chromosomal abnormalitiesRNA modifications and cancer
Publications récentes
Maternal Mosaicism Challenges in Non‐Invasive Prenatal Diagnosis
M Comèl, Marina Lamairia, Odile Boute, Camille Cenni et autres
1 citationPrenatal Diagnosis
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres
49 citationsNature Genetics
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres
52 citationsThe Lancet Regional Health - Europe
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Caroline Nava, Benjamin Cogné, Elsa Leitão, François Lecoquierre et autres
3 citationsmedRxiv
Assessing feasibility and risk to translate, de-identify and summarize medical reports using deep learning
Lucas W. Gauthier, Marjolaine Willems, Nicolas Chatron, Camille Cenni et autres
1 citationmedRxiv
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
Quentin Sabbagh, Mylène Tharreau, Camille Cenni, Elodie Sanchez et autres
5 citationsEuropean Journal of Medical Genetics
When Familial Hearing Loss Means Genetic Heterogeneity: A Model Case Report
Camille Cenni, Luke Mansard, Catherine Blanchet, David Baux et autres
5 citationsDiagnostics
TBX3 and TBX5 duplication: A family with an atypical overlapping Holt-Oram/ulnar-mammary syndrome phenotype
Camille Cenni, Stephanie Andres, Maja Hempel, Tim M. Strom et autres
7 citationsEuropean Journal of Medical Genetics
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