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Pasquelena De Nittis
Observed names:
De Nittis, P.,
De Nittis, Pasquelena,
P De Nittis,
P. De Nittis,
Pasquelena De Nittis,
Pasquelena Nittis
show all 6
Institutions:
Swiss Cancer Center Léman,
École Polytechnique Fédérale de Lausanne
Observed institutions:
Casa Sollievo della Sofferenza,
Istituto Giannina Gaslini,
Swiss Cancer Center Léman,
École Polytechnique Fédérale de Lausanne,
University of Lausanne
ORCID:
0000-0001-7144-8425
Observed ORCID:
0000-0001-7144-8425
OpenAlex ID:
A5085735275
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of K abuki Syndrome Patients
2014
·
Lucia Micale
, Bartolomeo Augello
, et al.
·
Human Mutation
·
103
PDF
Dissecting KMT2D missense mutations in Kabuki syndrome patients
2018
·
Dario Cocciadiferro
, Bartolomeo Augello
, et al.
·
Human Molecular Genetics
·
84
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
2016
·
Elisabeth M. Lodder
, Pasquelena De Nittis
, et al.
·
The American Journal of Human Genetics
·
81
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
2019
·
Giuliana Giannuzzi
, Paul J. Schmidt
, et al.
·
The American Journal of Human Genetics
·
53
PDF
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival
2015
·
Lucia Micale
, Carmela Fusco
, et al.
·
BMC Cancer
·
53
PDF
HDAC6 mediates the acetylation of TRIM50
2013
·
Carmela Fusco
, Lucia Micale
, et al.
·
Cellular Signalling
·
23
Expression of base excision repair key factors and miR17 in familial and sporadic breast cancer
2014
·
S De Summa
, R Pinto
, et al.
·
Cell Death and Disease
·
22
PDF
The Emerging Role of Gβ Subunits in Human Genetic Diseases
2019
·
Natascia Malerba
, Pasquelena De Nittis
, et al.
·
Cells
·
20
PDF
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
2016
·
Elisabeth M. Lodder
, Pasquelena De Nittis
, et al.
·
The American Journal of Human Genetics
·
20
PDF
Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous GNB5 variants
2018
·
H. Vernon
, J. Cohen
, et al.
·
Clinical Genetics
·
17
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome
2020
·
Pasquelena De Nittis
, Stephanie Efthymiou
, et al.
·
Journal of Medical Genetics
·
12
PDF
PIGNencephalopathy: Characterizing the epileptology
2022
·
Allan Bayat
, Guillem de Valles‐Ibáñez
, et al.
·
Epilepsia
·
11
PDF
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial Case
2016
·
Carmela Fusco
, Pasquelena Nittis
, et al.
·
Journal of Pediatric Genetics
·
8
ButterflyVI: enabling high-throughput variant interpretation and biomarker discovery with functional genomics
2026
·
Debora Sesia
, András Hatos
, et al.
·
bioRxiv (Cold Spring Harbor Laboratory)
·
1
PDF
Genomic and Genetic Disorders Biobank
2015
·
Carmela Fusco
, Lucia Micale
, et al.
·
Open Journal of Bioresources
·
1
PDF
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Works count:
19
Citation count:
509
H-index:
11
I10-index:
12
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