Lista de obras - Slavé Petrovski - Dominio Público Uruguay

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

artículo científico publicado en 2011

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

artículo científico publicado en 2015

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

artículo científico publicado en 2017

Annotating pathogenic non-coding variants in genic regions

artículo científico

Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population

artículo científico publicado en 2011

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

artículo científico publicado en 2017

De novo mutations in epileptic encephalopathies

artículo científico publicado en 2013

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

artículo científico publicado en 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

artículo científico publicado en 2015

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

artículo científico publicado en 2018

Genic intolerance to functional variation and the interpretation of personal genomes

artículo científico publicado en 2013

Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure

artículo científico publicado en 2011

Incorporating Functional Information in Tests of Excess De Novo Mutational Load.

artículo científico publicado en 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

artículo científico publicado en 2015

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

artículo científico publicado en 2014

Lack of replication of association between scn1a SNP and febrile seizures.

artículo científico publicado en 2009

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Multi-SNP pharmacogenomic classifier is superior to single-SNP models for predicting drug outcome in complex diseases

artículo científico publicado en 2009

Neuropsychiatric symptomatology predicts seizure recurrence in newly treated patients

artículo científico publicado en 2010

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

artículo científico

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

artículo científico

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

artículo científico publicado en 2017

Phenomics and the interpretation of personal genomes

artículo científico publicado en 2014

Quinidine in the treatment of KCNT1-positive epilepsies

artículo científico publicado en 2015

Rare variant contribution to human disease in 281,104 UK Biobank exomes

artículo científico publicado en 2021

Rare-variant collapsing analyses for complex traits: guidelines and applications

scientific article published on 11 October 2019

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

Sequencing studies in human genetics: design and interpretation.

artículo científico publicado en 2013

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

artículo científico publicado en 2015

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

artículo científico publicado en 2015

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Time‐frequency mapping of the rhythmic limb movements distinguishes convulsive epileptic from psychogenic nonepileptic seizures ⬇️

artículo científico publicado el 3 de mayo de 2013

Unraveling the genetics of common epilepsies: Approaches, platforms, and caveats ⬇️

artículo científico publicado el 26 de octubre de 2012

Validation of a multigenic model to predict seizure control in newly treated epilepsy.

artículo científico publicado en 2014

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

artículo científico publicado en 2015

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

scientific article published on 01 October 2018

Lista de obras de Slavé Petrovski

A genome-wide comparison of the functional properties of rare and common genetic variants in humans

Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

Annotating pathogenic non-coding variants in genic regions

Common human genetic variants and HIV-1 susceptibility: a genome-wide survey in a homogeneous African population

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

De novo mutations in epileptic encephalopathies

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Genic intolerance to functional variation and the interpretation of personal genomes

Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure

Incorporating Functional Information in Tests of Excess De Novo Mutational Load.

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

Lack of replication of association between scn1a SNP and febrile seizures.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Multi-SNP pharmacogenomic classifier is superior to single-SNP models for predicting drug outcome in complex diseases

Neuropsychiatric symptomatology predicts seizure recurrence in newly treated patients

One gene, many neuropsychiatric disorders: lessons from Mendelian diseases.

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

Phenomics and the interpretation of personal genomes

Quinidine in the treatment of KCNT1-positive epilepsies

Rare variant contribution to human disease in 281,104 UK Biobank exomes

Rare-variant collapsing analyses for complex traits: guidelines and applications

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Sequencing studies in human genetics: design and interpretation.

Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Time‐frequency mapping of the rhythmic limb movements distinguishes convulsive epileptic from psychogenic nonepileptic seizures ⬇️

Unraveling the genetics of common epilepsies: Approaches, platforms, and caveats ⬇️

Validation of a multigenic model to predict seizure control in newly treated epilepsy.

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays