Elisa Pisaneschi

Telomere shortening and telomere position effect in mild ring 17 syndrome

Cecilia Surace, Francesco Berardinelli, Andrea Masotti et al. · Epigenetics & Chromatin · 2014 · 121 citations · Full text

Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6

Andrea Masotti, Paolo Uva, Laura Davis‐Keppen et al. · The American Journal of Human Genetics · 2015 · 114 citations · Full text

Keppen-lubinsky Syndrome Is, Channelopathies, Molecular Physiology +6

Trisomic rescue causing reduction to homozygosity for a novel <i>ABCA12</i> mutation in harlequin ichthyosis

Daniele Castiglia, Marco Castori, Elisa Pisaneschi et al. · Clinical Genetics · 2009 · 90 citations

Genetics, Genetic Epidemiology, Pathology +17

Congenital heart defects in molecularly proven Kabuki syndrome patients

M. Cristina Digilio, Maria Gnazzo, Francesca Romana Lepri et al. · American Journal of Medical Genetics Part A · 2017 · 83 citations

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing

Francesca Romana Lepri, Rossana Scavelli, M. Cristina Digilio et al. · BMC Medical Genetics · 2014 · 68 citations · Full text