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Anna Cereda | Researchclopedia

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Anna Cereda

Ospedale Papa Giovanni XXIII ORCID

74

Works

2,012

Citations

25

h-index

39

i10-index

Research Topics

Genomics and Chromatin Dynamics Genomic variations and chromosomal abnormalities Genetic Syndromes and Imprinting

Affiliations

Pediatric Oncology Group2015–2015

Ospedale Maggiore2009–2010

Ospedale Papa Giovanni XXIII2015–2025

National Center on Birth Defects and Developmental Disabilities2009–2009

Azienda Ospedaliera San Gerardo2013–2025

Top Works

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Antonie D. Kline,Joanna Moss,et al.

2018365 citations

RNA modifications and cancer

RNA Research and Splicing

The trisomy 18 syndrome

Anna Cereda,John C. Carey

2012338 citations

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

Sylvia Huisman,Paul A. Mulder,et al.

201796 citations

Premature chromatid separation is not a useful diagnostic marker for Cornelia de Lange syndrome

Paola Castronovo,Cristina Gervasini,et al.

200984 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

Cohesin complex-associated holoprosencephaly

Paul Kruszka,Seth Berger,et al.

201962 citations

Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

Anna Pistocchi,Grazia Fazio,et al.

201356 citations

Genotype–phenotype correlations in a new case of 8p23.1 deletion and review of the literature

Lucia Ballarati,Anna Cereda,et al.

201052 citations

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing

Emanuele Nicastro,Angelo Di Giorgio,et al.

201952 citations