List of works - Slavé Petrovski

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

scientific article

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

scientific article published on 30 March 2015

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

scientific article published on 18 January 2017

Annotating pathogenic non-coding variants in genic regions

scientific article published on 09 August 2017

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

scientific article

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

scientific article published in November 2017

De novo mutations in epileptic encephalopathies

scientific article

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

scientific article published on 06 September 2013

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

scientific article published on 17 April 2015

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

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

scientific article published on 20 December 2018

Genic intolerance to functional variation and the interpretation of personal genomes

scientific article

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

scientific article

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

scientific article

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

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

scientific article

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

scientific article

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

scientific article published in February 2009

Neuropsychiatric symptomatology predicts seizure recurrence in newly treated patients

scientific article published in September 2010

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

scientific article published on 27 May 2014

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

scientific article published on September 2017

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

scientific article published on 10 August 2017

Phenomics and the interpretation of personal genomes

scientific article published in September 2014

Quinidine in the treatment of KCNT1-positive epilepsies

scientific article published on 15 September 2015

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

scientific article published on 10 August 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.

scientific article

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

scientific article

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

scientific article published on 2 September 2015

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

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

scientific article published on October 26, 2012

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

scientific article published on 16 September 2014

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

scientific article published on 15 January 2015

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

scientific article published on 01 October 2018

List of works by 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

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