Francesco Petrizzelli | Ricerc@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