Eva Pipiras
Inserm(FR)Sorbonne Université(FR)Hôpital Armand-Trousseau(FR)Université Sorbonne Paris Nord(FR)Assistance Publique – Hôpitaux de Paris(FR)Dynamique du noyau(FR)NeuroDiderot(FR)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Chromosomal and Genetic Variations, Prenatal Screening and Diagnostics, Congenital heart defects research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Expression of Fragile Sites Triggers Intrachromosomal Mammalian Gene Amplification and Sets Boundaries to Early Amplicons(1997)395 cited
- → Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome(1998)117 cited
- → Haploinsufficiency ofSOX5at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features(2012)103 cited
- → 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations(2018)93 cited
- → 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?(2008)88 cited
- → WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation