Jelena Pozojevic

<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, Morad Ansari et al. · Human Mutation · 2015 · 88 citations · Full text

Lysosomal Storage Disease, Genetics, Immunodeficiencies +25

A hexanucleotide repeat modifies expressivity of X‐linked dystonia parkinsonism

Ana Westenberger, Charles Jourdan Reyes, Gerard Saranza et al. · Annals of Neurology · 2019 · 88 citations

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

Ilaria Parenti, Maria Esperanza Teresa‐Rodrigo, Jelena Pozojevic et al. · Human Genetics · 2017 · 81 citations

Chromatin, Genome Instability, Mendelian Disorder +12

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

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, Yasemin Alanay et al. · Human Genetics · 2015 · 63 citations · Full text

Urology, Mendelian Disorder, Genetic Disorder +8