List of works - Alessandro Bruselles

'Sentinel' mutations in standard population sequencing can predict the presence of HIV-1 reverse transcriptase major mutations detectable only by ultra-deep pyrosequencing.

scientific article published on 2 September 2011

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

scientific article

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

scientific article published on 17 August 2017

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

scientific article published on 17 July 2020

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

scientific article published on 06 April 2020

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

scientific article

Analysis of co-receptor usage of circulating viral and proviral HIV genome quasispecies by ultra-deep pyrosequencing in patients who are candidates for CCR5 antagonist treatment.

scientific article published on 5 November 2010

Archived HIV-1 minority variants detected by ultra-deep pyrosequencing in provirus may be fully replication competent

scientific article published in November 2009

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

scientific article

Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance.

scientific article

Combinatorial analysis and algorithms for quasispecies reconstruction using next-generation sequencing

scientific article

Comparison of real-time PCR methods for measurement of HIV-1 proviral DNA.

scientific article

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

scientific article

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

scientific article published on 14 March 2018

Detection of quasispecies variants predicted to use CXCR4 by ultra-deep pyrosequencing during early HIV infection

article

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

scientific article published on 19 December 2016

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

scientific article

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

scientific article published on 15 December 2020

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation

scientific article published on 02 January 2017

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

scientific article published on 8 July 2017

Low‐Abundance Drug Resistance Mutations: Extending the HIV Paradigm to Hepatitis B Virus

article

Massively parallel pyrosequencing highlights minority variants in the HIV-1 env quasispecies deriving from lymphomonocyte sub-populations

scientific article published on 12 February 2009

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

scientific article

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

scientific article published on 7 April 2016

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

scientific article published in November 2017

Role of the linker domain and the 203-214 N-terminal residues in the human topoisomerase I DNA complex dynamics.

scientific article published on 3 September 2004

Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I.

scientific article

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

scientific article published on 22 July 2017

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

The genotypic false positive rate determined by V3 population sequencing can predict the burden of HIV-1 CXCR4-using species detected by pyrosequencing

scientific article

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

scientific article published on 24 April 2018

Ultra-deep sequencing reveals hidden HIV-1 minority lineages and shifts of viral population between the main cellular reservoirs of the infection after therapy interruption

scientific article published in June 2012

Use of massive parallel pyrosequencing for near full-length characterization of a unique HIV Type 1 BF recombinant associated with a fatal primary infection

scientific article published in September 2009

Use of massively parallel ultradeep pyrosequencing to characterize the genetic diversity of hepatitis B virus in drug-resistant and drug-naive patients and to detect minor variants in reverse transcriptase and hepatitis B S antigen

scientific article published on 10 December 2008

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

scientific article published on 25 April 2016

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

scientific article published on 5 November 2014

List of works by Alessandro Bruselles

'Sentinel' mutations in standard population sequencing can predict the presence of HIV-1 reverse transcriptase major mutations detectable only by ultra-deep pyrosequencing.

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer

A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10.

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

ACE2 variants underlie interindividual variability and susceptibility to COVID-19 in Italian population

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Analysis of co-receptor usage of circulating viral and proviral HIV genome quasispecies by ultra-deep pyrosequencing in patients who are candidates for CCR5 antagonist treatment.

Archived HIV-1 minority variants detected by ultra-deep pyrosequencing in provirus may be fully replication competent

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

Cancer Stem Cell-Based Models of Colorectal Cancer Reveal Molecular Determinants of Therapy Resistance.

Combinatorial analysis and algorithms for quasispecies reconstruction using next-generation sequencing

Comparison of real-time PCR methods for measurement of HIV-1 proviral DNA.

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Detection of quasispecies variants predicted to use CXCR4 by ultra-deep pyrosequencing during early HIV infection

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Low‐Abundance Drug Resistance Mutations: Extending the HIV Paradigm to Hepatitis B Virus

Massively parallel pyrosequencing highlights minority variants in the HIV-1 env quasispecies deriving from lymphomonocyte sub-populations

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia.

Novel SEC61G-EGFR Fusion Gene in Pediatric Ependymomas Discovered by Clonal Expansion of Stem Cells in Absence of Exogenous Mitogens.

Role of the linker domain and the 203-214 N-terminal residues in the human topoisomerase I DNA complex dynamics.

Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I.

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

The genotypic false positive rate determined by V3 population sequencing can predict the burden of HIV-1 CXCR4-using species detected by pyrosequencing

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Ultra-deep sequencing reveals hidden HIV-1 minority lineages and shifts of viral population between the main cellular reservoirs of the infection after therapy interruption

Use of massive parallel pyrosequencing for near full-length characterization of a unique HIV Type 1 BF recombinant associated with a fatal primary infection

Use of massively parallel ultradeep pyrosequencing to characterize the genetic diversity of hepatitis B virus in drug-resistant and drug-naive patients and to detect minor variants in reverse transcriptase and hepatitis B S antigen

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.