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francesco.petrizzelli@uniroma1.it
Francesco Petrizzelli
Dottorando
Struttura:
Non assegnato
E-mail:
francesco.petrizzelli@uniroma1.it
Pagina istituzionale corsi di laurea
Curriculum Sapienza
Pubblicazioni
Titolo
Pubblicato in
Anno
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
FRONTIERS IN BIOINFORMATICS
2024
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
GENETICS IN MEDICINE
2024
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
2023
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants
NATURE COMMUNICATIONS
2023
Investigating Mitochondrial Gene Expression Patterns in Drosophila melanogaster Using Network Analysis to Understand Aging Mechanisms
APPLIED SCIENCES
2023
Molecular dynamics analysis of superoxide dismutase 1 mutations suggests decoupling between mechanisms underlying ALS onset and progression
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
FRONTIERS IN ENDOCRINOLOGY
2023
Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
MOLECULAR NEUROBIOLOGY
2022
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
2022
Connecting the dots: A practical evaluation of web-tools for describing protein dynamics as networks
FRONTIERS IN BIOINFORMATICS
2022
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits
NUCLEIC ACIDS RESEARCH
2021
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
BONE
2021
A comparative benchmark of classic DNA motif discovery tools on synthetic data
BRIEFINGS IN BIOINFORMATICS
2021
Phosphorylation within intrinsic disordered region discriminates histone variant macroh2a1 splicing isoforms—macroh2a1.1 and macroh2a1.2
BIOLOGY
2021
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance
MOLECULAR GENETICS & GENOMIC MEDICINE
2020
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
2020
Pyntacle: a parallel computing-enabled framework for large-scale network biology analysis
GIGASCIENCE
2020
Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?
EVOLUTIONARY BIOINFORMATICS ONLINE
2019
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