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Ilaria Parenti | Researchclopedia

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Ilaria Parenti

Essen University Hospital ORCID

55

Works

1,848

Citations

22

h-index

30

i10-index

Research Topics

Genomics and Chromatin Dynamics RNA Research and Splicing Genomic variations and chromosomal abnormalities

Affiliations

Hebron University2024–2024

Institute of Science and Technology Austria2019–2020

University of Milan2013–2016

Universidad de Zaragoza2024–2024

Hospital Universitari Arnau de Vilanova2024–2024

Top Works

Neurodevelopmental Disorders: From Genetics to Functional Pathways

Ilaria Parenti,Luis G. Rabaneda,et al.

2020608 citations

Genomics and Rare Diseases

Genetics and Neurodevelopmental Disorders

Phenotypes and genotypes in individuals with <i>SMC1A</i> variants

Sylvia Huisman,Paul A. Mulder,et al.

201796 citations

<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

María Concepción Gil‐Rodríguez,Matthew A. Deardorff,et al.

201589 citations

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Ilaria Parenti,Maria Esperanza Teresa‐Rodrigo,et al.

201783 citations

Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype

Ilaria Parenti,Cristina Gervasini,et al.

201576 citations

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Michael D. Fountain,David S. Oleson,et al.

201975 citations

Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes

Ana Latorre,Ángela Ascaso,et al.

202069 citations

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Nuria C. Bramswig,Hermann‐Josef Lüdecke,et al.

201564 citations

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

Ilaria Parenti,Farah Diab,et al.

202058 citations