Francesco Petrizzelli

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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