LEONARDI, EMANUELA

LEONARDI, EMANUELA  

Dipartimento di Scienze Biomediche - DSB  

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Risultati 1 - 20 di 70 (tempo di esecuzione: 0.055 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs) 2025 Aspromonte, Maria CristinaDel Conte, AlessioMurgia, AlessandraPiovesan, DamianoTosatto, Silvio C. E.Leonardi, Emanuela + HUMAN GENETICS - -
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge 2025 Aspromonte, Maria CristinaDel Conte, AlessioPolli, RobertaBettella, ElisaNosadini, MargheritaPiovesan, DamianoTosatto, Silvio C EMurgia, AlessandraLeonardi, Emanuela + HUMAN GENETICS - -
Best practices for the manual curation of intrinsically disordered proteins in DisProt 2024 Nugnes, Maria VictoriaAspromonte, Maria CristinaLeonardi, EmanuelaPiovesan, DamianoTosatto, Silvio C E + DATABASE - -
CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods 2024 Piero FariselliManuel GiolloSilvio C E TosattoFederica LovisaElisa BettellaFederica CescaRoberta PolliStefano SartoriIrene ToldoMaria C AspromonteEmanuela LeonardiAlessandra MurgiaRui ChenGiovanni MinerviniAlexander M Monzon + GENOME BIOLOGY - -
Expanding the clinical phenotype of SHANK2-related disorders: childhood apraxia of speech in a patient with a novel SHANK2 pathogenic variant 2024 Leonardi, EmanuelaMurgia, Alessandra + EUROPEAN CHILD & ADOLESCENT PSYCHIATRY - -
CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs) 2023 Aspromonte, Maria CristinaConte, Alessio DelMurgia, AlessandraPiovesan, DamianoTosatto, Silvio C. E.Leonardi, Emanuela + HUMAN GENETICS - -
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 2023 Leonardi, EmanuelaMurgia, Alessandra + THE JOURNAL OF CLINICAL INVESTIGATION - -
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants 2023 Murgia, AlessandraLeonardi, Emanuela + EPIGENOMICS - -
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel mutations 2023 Emanuela LeonardiMaria Cristina AspromonteElisa BettellaRoberta PolliGiulia BonatoSerena PellegrinMiryam CarecchioAlessandra Murgia + EUROPEAN JOURNAL OF HUMAN GENETICS - -
PED in 2024: improving the community deposition of structural ensembles for intrinsically disordered proteins 2023 Ghafouri, HamidrezaDel Conte, AlessioAspromonte, Maria CristinaLeonardi, EmanuelaTosatto, Silvio C EMonzon, Alexander Miguel + NUCLEIC ACIDS RESEARCH - -
DisProt in 2022: improved quality and accessibility of protein intrinsic disorder annotation 2022 Quaglia, FedericaSalladini, EdoardoHatos, AndrásPajkos, MátyásAspromonte, Maria CristinaBassot, ClaudioChasapi, AnastasiaDavey, Norman EDobson, LaszloElofsson, ArneGlavina, JulianaIserte, JavierLambrughi, MatteoLeonardi, EmanuelaLonghi, SoniaMaiani, EmilianoMarchetti, JuliaMonzon, Alexander MiguelMinervini, GiovanniNilsson, Juliet FPalopoli, NicolásPapaleo, ElenaVeljkovic, NevenaParisi, GustavoTosatto, Silvio C EPiovesan, Damiano + NUCLEIC ACIDS RESEARCH - -
Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow 2022 Murgia, AlessandraLeonardi, EmanuelaPolli, Roberta + JAMA NETWORK OPEN - -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 2022 Leonardi, EmanuelaMurgia, AlessandraOgnibene, Davide + GENOME MEDICINE - -
Molecular Effects of Mutations in Human Genetic Diseases 2022 Emanuela LeonardiGiovanni Minervini + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
A Missense de Novo Variant in the CASK -interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia 2021 Leonardi E.Polli R.Murgia A. + NEUROPEDIATRICS - -
Critical assessment of protein intrinsic disorder prediction 2021 Necci M.Piovesan D.Walsh I.Vendruscolo M.Sormanni P.Wang C.Sharma R.Zhou Y.Vranken W.Dosztanyi Z.Erdos G.Meszaros B.Sharma A.Callebaut I.Tamana S.Chasapi A.Ouzounis C.Lambrughi M.Maiani E.Papaleo E.Chemes L. B.Alvarez L.Palopoli N.Benitez G. I.Bassot C.Elofsson A.Salvatore M.Hatos A.Monzon A. M.Bevilacqua M.Micetic I.Minervini G.Paladin L.Quaglia F.Leonardi E.Davey N.Tantos A.Davidovic R.Veljkovic N.Hajdu-Soltesz B.Pajkos M.Szaniszlo T.Tosatto S. C. E. + NATURE METHODS - -
A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES) 2020 Leonardi E.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND) 2020 Emanuela LeonardiRoberta PolliAlessandra Murgia + EUROPEAN JOURNAL OF MEDICAL GENETICS - -
Expanding the genetic landscape of Rett syndrome to include lysine acetyltransferase 6A (KAT6A) 2020 Leonardi E.Murgia A. + JOURNAL OF GENETICS AND GENOMICS - -
Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype 2020 Cesca F.Bettella E.Polli R.Leonardi E.Aspromonte M. C.Cama E.Scimemi P.Santarelli R.Murgia A. + JOURNAL OF HUMAN GENETICS - -