Chiara De Luca

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

F. Brancati, F. Boaretto, R. Ippoliti, 2023, European Journal of Human Genetics.

Bilateral internal mammary artery for multi-territory myocardial revascularization: long-term follow-up of pedicled versus skeletonized conduits.

M. Penco, M. di Mauro, S. Romano, 2015, European journal of cardio-thoracic surgery : official journal of the European Association for Cardio-thoracic Surgery.

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

H. Mefford, F. Brancati, M. McDonald, 2021, HGG advances.

Retrotransposon LINE-1 bodies in the cytoplasm of piRNA-deficient mouse spermatocytes: Ribonucleoproteins overcoming the integrated stress response

A. Bortvin, Anuj Gupta, Chiara De Luca, 2023, PLoS genetics.

Transient reduction of DNA methylation at the onset of meiosis in male mice

K. Hansen, V. Gaysinskaya, A. Bortvin, 2017, Epigenetics & Chromatin.

RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.

F. Brancati, A. Costanzo, M. Salvatore, 2022, Human Molecular Genetics.