Daphné Lehalle
Sorbonne Université(FR)Assistance Publique – Hôpitaux de Paris(FR)Pitié-Salpêtrière Hospital(FR)European Telecommunications Satellite Organization(FR)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, RNA modifications and cancer, Congenital heart defects research
Most-Cited Works
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited
- → Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders(2016)166 cited
- → Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans(2017)154 cited
- → Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing(2017)136 cited
- → A review of craniofacial disorders caused by spliceosomal defects(2015)114 cited
- → Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3(2018)110 cited