Lista de obras - Emanuela Leonardi - Dominio Público Uruguay

2mit, an intronic gene of Drosophila melanogaster timeless2, is involved in behavioral plasticity.

artículo científico publicado en 2013

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

artículo científico publicado en 2020

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

artículo científico publicado en 2011

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy

artículo científico publicado en 2013

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

artículo científico publicado en 2010

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

artículo científico publicado en 2005

Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network.

artículo científico publicado en 2009

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

artículo científico publicado en 2019

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

artículo científico publicado en 2019

BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data.

artículo científico publicado en 2015

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features

artículo científico publicado en 2017

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

artículo científico publicado en 2012

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

scientific article published on 02 August 2019

Connexin 26 35delG does not represent a mutational hotspot

artículo científico publicado en 2003

Crohn disease risk prediction-Best practices and pitfalls with exome data.

artículo científico publicado en 2017

Deletions and mutations in the acidic lipid-binding region of the plasma membrane Ca2+ pump: a study on different splicing variants of isoform 2.

artículo científico publicado en 2010

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

artículo científico publicado en 2016

DisProt: intrinsic protein disorder annotation in 2020

artículo científico publicado en 2020

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

artículo científico publicado en 2017

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

artículo científico publicado en 2012

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

artículo científico publicado en 2011

Fly cryptochrome and the visual system

artículo científico publicado en 2013

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population

artículo científico publicado en 2011

Identification of four novel PCDH19 Mutations and prediction of their functional impact

artículo científico publicado en 2014

Lessons from the CAGI-4 Hopkins clinical panel challenge

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

artículo científico publicado en 2017

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5

scientific article published on 17 August 2019

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Lista de obras de Emanuela Leonardi

2mit, an intronic gene of Drosophila melanogaster timeless2, is involved in behavioral plasticity.

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

A computational model of the LGI1 protein suggests a common binding site for ADAM proteins.

A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

Adding structural information to the von Hippel-Lindau (VHL) tumor suppressor interaction network.

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

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

BOOGIE: Predicting Blood Groups from High Throughput Sequencing Data.

CNTNAP2 mutations and autosomal dominant epilepsy with auditory features

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

Characterization of intellectual disability and autism comorbidity through gene panel sequencing

Connexin 26 35delG does not represent a mutational hotspot

Crohn disease risk prediction-Best practices and pitfalls with exome data.

Deletions and mutations in the acidic lipid-binding region of the plasma membrane Ca2+ pump: a study on different splicing variants of isoform 2.

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

DisProt: intrinsic protein disorder annotation in 2020

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

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females

Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.

Fly cryptochrome and the visual system

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

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

Identification and in silico analysis of novel von Hippel-Lindau (VHL) gene variants from a large population

Identification of four novel PCDH19 Mutations and prediction of their functional impact

Lessons from the CAGI-4 Hopkins clinical panel challenge

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

Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges.

Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5

Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI.

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

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

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

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