Pasquelena De Nittis

Statistics

Publications

Citations

405

H-Index

Active since

2013

Affiliations

Istituti di Ricovero e Cura a Carattere Scientifico(Current)

Casa Sollievo della Sofferenza

University of Lausanne

University of Foggia

National Institute of Diabetes and Digestive and Kidney Diseases

Pasquelena De Nittis is an author at Istituti di Ricovero e Cura a Carattere Scientifico specializing in life sciences, medical genetics, and genetic disorders.

ORCID

Publications per year

2013–2019

Publications

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

Life Sciences, Genetics, Molecular Genetics +16

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 · 81 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Dissecting <i>KMT2D</i> missense mutations in Kabuki syndrome patients

Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis et al. · Human Molecular Genetics · 2018 · 75 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 54 citations · Full text

Medicine, Molecular Biology, Oncology +17

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

Life Sciences, Genetics, Molecular Genetics +13

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