Ilaria Parenti
Essen University Hospital(DE)
Publications by Year
Research Areas
Genomics and Chromatin Dynamics, RNA Research and Splicing, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Neurodevelopmental Disorders: From Genetics to Functional Pathways(2020)605 cited
- → Phenotypes and genotypes in individuals with SMC1A variants(2017)96 cited
- → De NovoHeterozygous Mutations inSMC3Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes(2015)89 cited
- → Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes(2017)82 cited
- → Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange‐overlapping phenotype(2015)76 cited
- → Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies(2019)75 cited
- → Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes(2020)69 cited
- → Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes(2015)64 cited
- → MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome(2020)57 cited
- → Chromatinopathies: A focus on Cornelia de Lange syndrome(2019)54 cited