Anna Cereda

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

Sylvia Huisman, Paul A. Mulder, E. Redeker et al. · American Journal of Medical Genetics Part A · 2017 · 94 citations · Full text

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

Paola Castronovo, Cristina Gervasini, Anna Cereda et al. · Chromosome Research · 2009 · 84 citations

Lange Syndrome, Surgical Pathology, Histopathology +7

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, Jelena Pozojevic et al. · Clinical Genetics · 2015 · 75 citations · Full text

Identifies Mutations, Rare Diseases, Cdls Genes +14

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà et al. · Brain · 2019 · 61 citations · Full text

Corticobasal Degeneration, Genetics, Disease Gene Identification +18

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

Anna Pistocchi, Grazia Fazio, Anna Cereda et al. · Cell Death and Disease · 2013 · 54 citations · Full text

Canonical Wnt Pathway, Cell Lineage, Developmental Biology +15