Emanuela Leonardi

University of Padua — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index3.3kcitations85works6.52yr avg
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Research Topics

Genomics and Rare Diseases(22), Genetics and Neurodevelopmental Disorders(19), Bioinformatics and Genomic Networks(10), Machine Learning in Bioinformatics(9), Protein Structure and Dynamics(8)

Publications84 total

Honokiol blocks tumor development and metastasis through mitochondrion-targeted effects
Cell Death and Disease·2026Open Access
DisProt in 2026: enhancing intrinsically disordered proteins accessibility, deposition, and annotation
Nucleic Acids Research·2025· 5 citedOpen Access
Corrigendum to CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation·2025Open Access
Integrative Multi-Omics Characterization and Structural Insights into the Poorly Annotated Integrin ITGA6 X1X2 Isoform in Mammals
Genes·2025Open Access
Decoding protein structures with residue interaction networks
Trends in Biochemical Sciences·2025· 1 citedOpen Access
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge
Human Genetics·2025· 4 citedOpen Access
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)
Human Genetics·2025· 2 citedOpen Access
Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge
2024Open Access
Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant
European Child & Adolescent Psychiatry·2024· 2 cited
Best practices for the manual curation of intrinsically disordered proteins in DisProt
Database·2024· 3 citedOpen Access
PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins
Nucleic Acids Research·2023· 61 citedOpen Access
DisProt in 2024: improving function annotation of intrinsically disordered proteins
Nucleic Acids Research·2023· 131 citedOpen Access
Best practices for the manual curation of Intrinsically Disordered Proteins in DisProt
arXiv (Cornell University)·2023Open Access
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)
2023Open Access
Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients
Research Square (Research Square)·2023· 2 citedOpen Access
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Journal of Clinical Investigation·2023· 39 citedOpen Access
Dna Methylation Episignatures are Sensitive and Specific Biomarkers for Detection of Patients with <i>Kat6A</i> / <i>Kat6B</i> Variants
Epigenomics·2023· 10 cited
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants
European Journal of Human Genetics·2022· 19 citedOpen Access
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
Genome Medicine·2022· 21 citedOpen Access
Molecular Effects of Mutations in Human Genetic Diseases
International Journal of Molecular Sciences·2022· 1 citedOpen Access
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Frequent Co-authors

Silvio C. E. Tosatto(29), Alessandra Murgia(24), Roberta Polli(14), Maria Cristina Aspromonte(12), Damiano Piovesan(9), Giovanni Minervini(9), Carlo Ferrari(9), Federica Quaglia(8), Elisa Bettella(8), Tamás Lázár(7), Péter Tompa(7), Marco Carraro(7), Zsuzsanna Dosztányi(6), Salvador Ventura(6), Alexander Miguel Monzón(6), Alessandra Gasparini(6), Manuel Giollo(6), Stefano Sartori(6), Cristina Marino‐Buslje(5), Jordi Pujols(5)