Lista de obras -

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm

artículo científico publicado en 2012

A novel class of somatic mutations in blood detected preferentially in CD8+ cells

artículo científico publicado en 2016

A6.02 Somatic mutations in clonally expanded CD8+T cells in patients with newly diagnosed rheumatoid arthritis

scholarly article by Tiina Kelkka et al published February 2016 in Annals of the Rheumatic Diseases

Activating somatic mutations outside the SH2-domain of STAT3 in LGL leukemia

artículo científico publicado en 2015

Allelic variants in HTR3C show association with autism.

artículo científico publicado en 2009

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

artículo científico publicado en 2017

Case studies investigating genetic heterogeneity between anatomically distinct bone marrow compartments in acute myeloid leukemia

artículo científico publicado en 2018

Clonal hematopoiesis in patients with rheumatoid arthritis

scholarly article by Paula Savola et al published 26 July 2018 in Blood Cancer Journal

Comparison of solution-based exome capture methods for next generation sequencing

artículo científico publicado en 2011

Comparison of targeted next-generation sequencing (NGS) and real-time PCR in the detection of EGFR, KRAS, and BRAF mutations on formalin-fixed, paraffin-embedded tumor material of non-small cell lung carcinoma-superiority of NGS.

artículo científico publicado en 2013

Copy number alterations and neoplasia-specific mutations in MELK, PDCD1LG2, TLN1, and PAX5 at 9p in different neoplasias

artículo científico publicado en 2014

Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study

scientific article published on 01 April 2019

Discovery of novel drug sensitivities in T-PLL by high-throughput ex vivo drug testing and mutation profiling.

artículo científico publicado en 2017

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia

artículo científico publicado en 2013

Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing

artículo científico publicado en 2015

Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yield.

artículo científico publicado en 2005

Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts

artículo científico publicado en 2021

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

artículo científico publicado en 2011

Gender differences in genetic risk profiles for cardiovascular disease

artículo científico publicado en 2008

Gender-Specific Associations Between Saliva Microbiota and Body Size

artículo científico publicado en 2019

Genetic Control of Myelin Plasticity after Chronic Psychosocial Stress

artículo científico publicado en 2018

Genome-wide DNA methylation in saliva and body size of adolescent girls.

artículo científico publicado en 2016

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

artículo científico publicado en 2014

Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity

artículo científico publicado en 2008

High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia.

artículo científico publicado en 2016

Individualized systems medicine strategy to tailor treatments for patients with chemorefractory acute myeloid leukemia.

artículo científico publicado en 2013

MicroRNA expression profiling reveals miRNA families regulating specific biological pathways in mouse frontal cortex and hippocampus

artículo científico publicado en 2011

Monitoring therapy responses at the leukemic subclone level by ultra-deep amplicon resequencing in acute myeloid leukemia

artículo científico publicado en 2016

Mutated ephrin receptor genes in non-small cell lung carcinoma and their occurrence with driver mutations-targeted resequencing study on formalin-fixed, paraffin-embedded tumor material of 81 patients.

artículo científico publicado en 2013

Novel TBL1XR1, EPHA7 and SLFN12 mutations in a Sezary syndrome patient discovered by whole exome sequencing.

artículo científico publicado en 2014

Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation

artículo científico publicado en 2013

Reproducibility and repeatability of six high-throughput 16S rDNA sequencing protocols for microbiota profiling

scholarly article by Sajan C Raju published in April 2018

Reproducibility and repeatability of six high-throughput 16S rDNA sequencing protocols for microbiota profiling

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

artículo científico publicado en 2006

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

scientific article published on 06 May 2019

STAT3 mutations indicate the presence of subclinical T-cell clones in a subset of aplastic anemia and myelodysplastic syndrome patients

artículo científico publicado en 2013

Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.

artículo científico publicado en 2017

TBX22 and tongue-tie

scientific article published on 09 September 2011

TaME-seq: An efficient sequencing approach for characterisation of HPV genomic variability and chromosomal integration

scientific article published in Scientific Reports

Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterations.

artículo científico publicado en 2013

The analysis of clonal diversity and therapy responses using STAT3 mutations as a molecular marker in large granular lymphocytic leukemia

artículo científico publicado en 2014

mtDNA Mutagenesis Disrupts Pluripotent Stem Cell Function by Altering Redox Signaling

artículo científico publicado en 2015

Lista de obras de

A balanced translocation truncates Neurotrimin in a family with intracranial and thoracic aortic aneurysm

A novel class of somatic mutations in blood detected preferentially in CD8+ cells

A6.02 Somatic mutations in clonally expanded CD8+T cells in patients with newly diagnosed rheumatoid arthritis

Activating somatic mutations outside the SH2-domain of STAT3 in LGL leukemia

Allelic variants in HTR3C show association with autism.

Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.

Case studies investigating genetic heterogeneity between anatomically distinct bone marrow compartments in acute myeloid leukemia

Clonal hematopoiesis in patients with rheumatoid arthritis

Comparison of solution-based exome capture methods for next generation sequencing

Comparison of targeted next-generation sequencing (NGS) and real-time PCR in the detection of EGFR, KRAS, and BRAF mutations on formalin-fixed, paraffin-embedded tumor material of non-small cell lung carcinoma-superiority of NGS.

Copy number alterations and neoplasia-specific mutations in MELK, PDCD1LG2, TLN1, and PAX5 at 9p in different neoplasias

Discovery of mitochondrial DNA variants associated with genome-wide blood cell gene expression: a population-based mtDNA sequencing study

Discovery of novel drug sensitivities in T-PLL by high-throughput ex vivo drug testing and mutation profiling.

Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia

Driver Gene and Novel Mutations in Asbestos-Exposed Lung Adenocarcinoma and Malignant Mesothelioma Detected by Exome Sequencing

Evaluating whole genome amplification via multiply-primed rolling circle amplification for SNP genotyping of samples with low DNA yield.

Examining the effect of mitochondrial DNA variants on blood pressure in two Finnish cohorts

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

Gender differences in genetic risk profiles for cardiovascular disease

Gender-Specific Associations Between Saliva Microbiota and Body Size

Genetic Control of Myelin Plasticity after Chronic Psychosocial Stress

Genome-wide DNA methylation in saliva and body size of adolescent girls.

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency

Global transcript profiles of fat in monozygotic twins discordant for BMI: pathways behind acquired obesity

High incidence of activating STAT5B mutations in CD4-positive T-cell large granular lymphocyte leukemia.

Individualized systems medicine strategy to tailor treatments for patients with chemorefractory acute myeloid leukemia.

MicroRNA expression profiling reveals miRNA families regulating specific biological pathways in mouse frontal cortex and hippocampus

Monitoring therapy responses at the leukemic subclone level by ultra-deep amplicon resequencing in acute myeloid leukemia

Mutated ephrin receptor genes in non-small cell lung carcinoma and their occurrence with driver mutations-targeted resequencing study on formalin-fixed, paraffin-embedded tumor material of 81 patients.

Novel TBL1XR1, EPHA7 and SLFN12 mutations in a Sezary syndrome patient discovered by whole exome sequencing.

Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation

Reproducibility and repeatability of six high-throughput 16S rDNA sequencing protocols for microbiota profiling

Reproducibility and repeatability of six high-throughput 16S rDNA sequencing protocols for microbiota profiling

Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

STAT3 mutations indicate the presence of subclinical T-cell clones in a subset of aplastic anemia and myelodysplastic syndrome patients

Somatic mutations in clonally expanded cytotoxic T lymphocytes in patients with newly diagnosed rheumatoid arthritis.

TBX22 and tongue-tie

TaME-seq: An efficient sequencing approach for characterisation of HPV genomic variability and chromosomal integration

Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterations.

The analysis of clonal diversity and therapy responses using STAT3 mutations as a molecular marker in large granular lymphocytic leukemia

mtDNA Mutagenesis Disrupts Pluripotent Stem Cell Function by Altering Redox Signaling