Emanuela Leonardi

DisProt in 2026: enhancing intrinsically disordered proteins accessibility, deposition, and annotation

Decoding protein structures with residue interaction networks

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge

Genetic Variants and Phenotypic Data Curated for the CAGI6 Intellectual Disability Panel Challenge

DisProt in 2024: improving function annotation of intrinsically disordered proteins

PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Rare variants in 45 genes account for 25% of cases with NDDs in 415 pediatric patients

Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Additional file 2 of Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Critical assessment of protein intrinsic disorder prediction

DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy”

A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES)

Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype

DisProt: intrinsic protein disorder annotation in 2020

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

Corrigendum: DisProt 7.0: a major update of the database of disordered proteins.

Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges

Dynamic scaffolds for neuronal signaling: in silico analysis of the TANC protein family

DisProt 7.0: a major update of the database of disordered proteins

Secretion-Positive LGI1 Mutations Linked to Lateral Temporal Epilepsy Impair Binding to ADAM22 and ADAM23 Receptors

VHLdb: A database of von Hippel-Lindau protein interactors and mutations

Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain

INGA: protein function prediction combining interaction networks, domain assignments and sequence similarity

BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data

Fly cryptochrome and the visual system