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Author Details

Maria Cristina Aspromonte
University of Padova
2017
16
8
PMIDPaper TitleJournal TitlePublished Year
37904585DisProt in 2024: improving function annotation of intrinsically disordered proteins.Nucleic Acids Res2024
36416266MobiDB: 10 years of intrinsically disordered proteins.Nucleic Acids Res2023
37577579CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs).Res Sq2023
36434256Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.Eur J Hum Genet2023
36866529The Gene Ontology knowledgebase in 2023.Genetics2023
34850135DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation.Nucleic Acids Res2022
32400065Characterization of intellectual disability and autism comorbidity through gene panel sequencing.Hum Mutat2020
33391157Identification of <i>SETBP1</i> Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".Front Neurol2020
32214004A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).Genes (Basel)2020
32467589Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype.J Hum Genet2020
31144778Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge.Hum Mutat2019
31209962Characterization of intellectual disability and autism comorbidity through gene panel sequencing.Hum Mutat2019
29179159CNTNAP2 mutations and autosomal dominant epilepsy with auditory features.Epilepsy Res2018
26732589Downregulation of GABA<sub>A</sub> Receptor Recycling Mediated by HAP1 Contributes to Neuronal Death in In Vitro Brain Ischemia.Mol Neurobiol2017
27965415Corrigendum: DisProt 7.0: a major update of the database of disordered proteins.Nucleic Acids Res2017
27899601DisProt 7.0: a major update of the database of disordered proteins.Nucleic Acids Res2017
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Collaborators

Silvio C E Tosatto
University of Padova
Co-authored papers 11
Damiano Piovesan
University of Padova
Co-authored papers 6
Federica Quaglia
University of Padova
Co-authored papers 5
Franco Stanzial
Genetic Counseling Service - Regional Hospital of Bolzano
Co-authored papers 4
Radoslav Davidovic
Institute of Nuclear Sciences Vinca, University of Belgrade
Co-authored papers 3
Zsuzsanna Dosztányi
Co-authored papers 3
Marco Carraro
Hematology and Clinical Immunology Unit, University of Padova
Co-authored papers 3
Nevena Veljkovic
Heliant Ltd
Co-authored papers 3
Norman E Davey
The Institute of Cancer Research
Co-authored papers 3
Peter Tompa
VIB-VUB Center for Structural Biology
Co-authored papers 3
Marco Necci
Co-authored papers 2
Agnes Tantos
Institute of Enzymology, HUN-REN Research Centre for Natural Sciences
Co-authored papers 2
Pascale Gaudet
University of Geneva
Co-authored papers 2
Alan Keith Dunker
Center for Computational Biology, Indiana University School of Medicine
Co-authored papers 2
Suvarna Nadendla
Institute for Genome Sciences, University of Maryland School of Medicine
Co-authored papers 2
Daniel B Roche
Universita degli Studi di Milano - Computer Science Department - AnacletoLab
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Beata Szabo
Institute of Enzymology, HUN-REN Research Centre for Natural Sciences
Co-authored papers 2
Vladimir N Uversky
Morsani College of Medicine, University of South Florida
Co-authored papers 2
Michelle Giglio
University of Maryland School of Medicine, Institute for Genome Sciences
Co-authored papers 2
Olivier Lichtarge
Baylor College of Medicine
Co-authored papers 2
Petra Fey
Center for Genetic Medicine, Northwestern University.
Co-authored papers 1
Laurel Cooper
Oregon State University
Co-authored papers 1
Anne E Kwitek
Medical College of Wisconsin
Co-authored papers 1
Catherine Rivoire
carnegie mellon university
Co-authored papers 1
Raymond Lee
Co-authored papers 1
Justin Elser
Oregon State University
Co-authored papers 1
Alan Bridge
carnegie mellon university
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Shyamala Sundaram
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Rita Casadio
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Release 1.2