List of works - Mauro Santibanez-Korev

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior.

scientific article

A molecular inversion probe and sequencing-based microsatellite instability assay for high throughput cancer diagnostics and Lynch syndrome screening

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

scientific article published on 16 April 2012

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours

scientific article published in PLoS ONE

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

scientific article (publication date: May 2014)

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

scientific article

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

scientific article

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3

scientific article

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

scientific article published on December 2007

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

scientific article

Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours

scientific article published on 30 July 2013

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

scientific article

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

scientific article

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression

scientific article published in April 2010

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

scientific article

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

scientific article

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 22 January 2016

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

scientific article

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

scientific article

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 3 March 2016

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article

Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events

scientific article published on 18 February 2016

Evidence for widespread reticulate evolution within human duplicons

scientific article

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

scientific article

Exome sequencing in undiagnosed inherited and sporadic ataxias

scientific article

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

scientific article published on 14 May 2015

Finding genes that influence quantitative traits with tree-based clustering

scientific article

Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study

scientific article

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

scientific article published on 21 December 2016

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

scientific article published on 6 November 2017

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons

scientific article published on 11 September 2014

Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5.

scientific article published on 21 January 2014

Identification of a neuronal transcription factor network involved in medulloblastoma development

scientific article published on 11 July 2013

Inhibition of O6-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli

scientific article

Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations ⬇️

scientific article published on 9 February 2018

Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells

scientific article published on 21 September 2011

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

scientific article

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

scientific article published on 02 February 2017

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

scientific article published on 26 June 2011

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

scientific article published on 24 September 2012

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

scientific article

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

scientific article published on 18 November 2012

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

scientific article

Point of care testing for improving risk- benefit ratio of aspirin and warfarin

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

scientific article published in October 2012

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

scientific article

Respiratory chain deficiency in nonmitochondrial disease

scientific article published on 27 April 2015

STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression

scientific article

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease

scientific article

Titin mutation segregates with hereditary myopathy with early respiratory failure

scientific article

Universal heteroplasmy of human mitochondrial DNA.

scientific article

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

scientific article published in July 2014

Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction

scientific article published on 16 March 2016

Using population data for assessing next-generation sequencing performance

scientific article

metabolic profiling of Parkinson's disease and mild cognitive impairment

scientific article

List of works by Mauro Santibanez-Korev

A SLM2 Feedback Pathway Controls Cortical Network Activity and Mouse Behavior.

A molecular inversion probe and sequencing-based microsatellite instability assay for high throughput cancer diagnostics and Lynch syndrome screening

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours

A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours

Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes

Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3

Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.

Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution

Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis

Bayesian inference supports a location and neighbour-dependent model of DNA methylation propagation at the MGMT gene promoter in lung tumours

Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene

Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.

Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression

Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

Erratum to: Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events

Evidence for widespread reticulate evolution within human duplicons

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Exome sequencing in undiagnosed inherited and sporadic ataxias

Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans

Finding genes that influence quantitative traits with tree-based clustering

Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

Human Tra2 proteins jointly control a CHEK1 splicing switch among alternative and constitutive target exons

Human chondrocytes respond discordantly to the protein encoded by the osteoarthritis susceptibility gene GDF5.

Identification of a neuronal transcription factor network involved in medulloblastoma development

Inhibition of O6-methylguanine-DNA methyltransferase by an alkyltransferase-like protein from Escherichia coli

Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations ⬇️

Large-scale transcriptional profiling and functional assays reveal important roles for Rho-GTPase signalling and SCL during haematopoietic differentiation of human embryonic stem cells

Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridization

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains

Mitochondrial aging is accelerated by anti-retroviral therapy through the clonal expansion of mtDNA mutations

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation

Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

NDUFS8-related Complex I Deficiency Extends Phenotype from "PEO Plus" to Leigh Syndrome

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls

Point of care testing for improving risk- benefit ratio of aspirin and warfarin

Prominent sensorimotor neuropathy due to SACS mutations revealed by whole-exome sequencing

Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux

Respiratory chain deficiency in nonmitochondrial disease

STK39 polymorphisms and blood pressure: an association study in British Caucasians and assessment of cis-acting influences on gene expression

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease

Titin mutation segregates with hereditary myopathy with early respiratory failure

Universal heteroplasmy of human mitochondrial DNA.

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction

Using population data for assessing next-generation sequencing performance

metabolic profiling of Parkinson's disease and mild cognitive impairment