Sfoglia per Autore  

Opzioni
Mostrati risultati da 1 a 20 di 64
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
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 PolliIrene ToldoEmanuela LeonardiAlessandra MurgiaRui ChenGiovanni Minervini + GENOME BIOLOGY - -
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 - -
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 2023 Leonardi, EmanuelaMurgia, Alessandra + THE JOURNAL OF CLINICAL INVESTIGATION - -
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 - -
Molecular Effects of Mutations in Human Genetic Diseases 2022 Emanuela LeonardiGiovanni Minervini + INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES - -
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome 2022 Leonardi, EmanuelaMurgia, AlessandraOgnibene, Davide + GENOME MEDICINE - -
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.Bellini M.Aspromonte M. C.Polli R.Bettella E.Cainelli E.Sartori S.Boniver C.Murgia A. + GENES - -
PPP2R5D variants in patients with variable neurodevelopmental phenotype 2020 Maria Cristina AspromonteEmanuela LeonardiRoberta PolliElisa BettellaMarilena CameranAlessandra Murgia + - - PPP2R5D variants in patients with variable neurodevelopmental phenotype
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 - -
Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With “Developmental and Epileptic Encephalopathy” 2020 Leonardi E.Bettella E.Aspromonte M. C.Polli R.Sartori S.Murgia A. + FRONTIERS IN NEUROLOGY - -
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 - -
Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5 2019 Monzon A. M.Carraro M.Chiricosta L.Reggiani F.MILLER, HEATHER MARGARET LOUISECasadio R.Ferrari C.Leonardi E.Tosatto S. C. E. + HUMAN MUTATION - -
DisProt: intrinsic protein disorder annotation in 2020 2019 Hatos, AndrásHajdu-Soltész, BorbálaMonzon, Alexander MPalopoli, NicolasÁlvarez, LucíaBassot, ClaudioBenítez, Guillermo IBevilacqua, MartinaChasapi, AnastasiaChemes, LuciaDavey, Norman EDavidović, RadoslavElofsson, ArneFoutel, Nicolás S GonzálezIglesias, ValentinLambrughi, MatteoLeonardi, EmanuelaMacedo-Ribeiro, SandraMarino-Buslje, CristinaMartínez-Pérez, ElizabethMičetić, IvanMinervini, GiovanniNecci, MarcoPaladin, LisannaPapaleo, ElenaParisi, GustavoBarbosa Pereira, Pedro JPujols, JordiQuaglia, FedericaSalvatore, MarcoSzaniszló, TamásTamana, StellaTantos, AgnesVeljkovic, NevenaVentura, SalvadorVranken, WimDosztányi, ZsuzsannaTompa, PeterTosatto, Silvio C EPiovesan, Damiano + NUCLEIC ACIDS RESEARCH - -
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge 2019 Carraro M.Monzon A. M.CHIRICOSTA, LUIGIREGGIANI, FRANCESCOAspromonte M. C.Bellini M.Ferrari C.Murgia A.Tosatto S. C. E.Leonardi E. + HUMAN MUTATION - -
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants 2019 Casadio, RitaGiollo, ManuelLeonardi, EmanuelaRousseau, FredericTosatto, Silvio C E + HUMAN MUTATION - -
Mostrati risultati da 1 a 20 di 64
Legenda icone

  •  file ad accesso aperto
  •  file disponibili sulla rete interna
  •  file disponibili agli utenti autorizzati
  •  file disponibili solo agli amministratori
  •  file sotto embargo
  •  nessun file disponibile