Pasquelena De Nittis

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients

Lucia Micale, Bartolomeo Augello, Claudia Maffeo et al. · Human Mutation · 2014 · 103 citations · Full text

Immunodeficiencies, Genetics, Pathology +20

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability

Elisabeth M. Lodder, Pasquelena De Nittis, Charlotte D. Koopman et al. · The American Journal of Human Genetics · 2016 · 80 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Dissecting KMT2D missense mutations in Kabuki syndrome patients

Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis et al. · Human Molecular Genetics · 2018 · 70 citations · Full text

Kmt2d Missense Mutations, Developmental Biology, Mendelian Disorder +11

TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival

Lucia Micale, Carmela Fusco, Andrea Fontana et al. · BMC Cancer · 2015 · 53 citations · Full text

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

Giuliana Giannuzzi, Paul J. Schmidt, Eleonora Porcu et al. · The American Journal of Human Genetics · 2019 · 52 citations · Full text

Autism Individuals, Developmental Biology, Heme Homeostasis +11