List of works by Janna Saarela

A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment

scientific article published on 21 January 2020

A Role for VAV1 in Experimental Autoimmune Encephalomyelitis and Multiple Sclerosis

scientific article published on 01 December 2009

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

scientific article published on 01 December 2012

A mouse model for Finnish variant late infantile neuronal ceroid lipofuscinosis, CLN5, reveals neuropathology associated with early aging

scientific journal article

A nearly fatal primary Epstein-Barr virus infection associated with low NK-cell counts in a patient receiving azathioprine: a case report and review of literature.

scientific article published on 10 May 2019

A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis

A quality assessment survey of SNP genotyping laboratories

A rare variant of the TYK2 gene is confirmed to be associated with multiple sclerosis

scientific article published on 4 November 2009

A two-stage study on multiple sclerosis susceptibility and chromosome 2q33

article

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

scientific article published on 29 January 2018

Allelic variants of IL1R1 gene associate with severe hand osteoarthritis

scientific article

An immune response network associated with blood lipid levels

scientific article

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

scientific article published on 29 September 2013

Are data from different gene expression microarray platforms comparable?

scientific article

Association analysis of the LAG3 and CD4 genes in multiple sclerosis in two independent populations

scientific article

Association study of MMP8 gene in osteoarthritis

scientific article published on 17 November 2015

Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing

scientific article published in February 2009

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

scientific article

Candidate Gene Association Study of Magnetic Resonance Imaging-based Hip Osteoarthritis (OA): Evidence for COL9A2 Gene as a Common Predisposing Factor for Hip OA and Lumbar Disc Degeneration

article

Chromosome 19q13 and multiple sclerosis susceptibility in Finland: a linkage and two-stage association study

scientific article published in May 2002

Class II HLA interactions modulate genetic risk for multiple sclerosis

scientific article published on 07 September 2015

Comparison of GenFlex Tag Array and Pyrosequencing in SNP Genotyping ⬇️

scientific article published on November 1, 2003

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

scientific article

Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts.

scientific article

Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: A 20-year follow-up

scientific article published in April 2016

Crowdsourced assessment of common genetic contribution to predicting anti-TNF treatment response in rheumatoid arthritis

scientific article published on 23 August 2016

DNA extraction yield is associated with several phenotypic characteristics: results from two large population surveys

scientific article published in November 2004

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

scientific article published on 20 January 2017

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

scientific article

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

scientific article published in July 2015

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Efficient discovery of single-nucleotide polymorphisms in coding regions of human genes.

scientific article

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

scientific article published on 04 May 2016

Erratum to: High-resolution SNP array analysis of patients with developmental disorder and normal array CGH result

scientific article published on 18 November 2014

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

scientific article published in August 2005

Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1).

scientific article published on 29 February 2004

Finding disease candidate genes by liquid association

scientific article

Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22-q24

scientific article published on 15 September 2002

Fine mapping of the multiple sclerosis susceptibility locus on 5p14–p12

scientific article published in December 2005

Functional variations modulating PRKCA expression and alternative splicing predispose to multiple sclerosis

scientific article

Gender differences in genetic risk profiles for cardiovascular disease

scientific article published in 2008

Gene expression patterns in a rodent model for depression

scientific article published on 06 April 2010

Genetic Association and Altered Gene Expression of in Multiple Sclerosis Patients

article

Genetic background of extreme violent behavior

scientific article

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

scientific article

Genetic similarity of chromosome 6 between patients receiving hematopoietic stem cell transplantation and HLA matched sibling donors

scientific article published on 10 March 2009

Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene

scientific article

Genomic association analysis of common variants influencing antihypertensive response to hydrochlorothiazide

scientific article published on 10 June 2013

Germline alterations in a consecutive series of acute myeloid leukemia

scientific article published on 10 April 2018

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

scientific article published on 17 October 2018

Hematopoietic stem cell transplantation rescues the hematological, immunological and vascular phenotype in DADA2.

scientific article published on 3 October 2017

Herpes simplex virus 2 encephalitis in a patient heterozygous for a TLR3 mutation

scientific article published on 25 November 2020

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

scientific article published on 16 September 2020

High divergence in primate-specific duplicated regions: human and chimpanzee chorionic gonadotropin beta genes

scientific article

High-resolution SNP array analysis of patients with developmental disorder and normal array CGH results

scientific article

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

scientific article published on 19 February 2008

Interleukin 1 Polymorphisms and Intervertebral Disc Degeneration

article

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

scientific article published on June 2010

Low frequency and rare coding variation contributes to multiple sclerosis risk

Lymphatic endothelial reprogramming of vascular endothelial cells by the Prox-1 homeobox transcription factor

scientific article

MYO9B polymorphisms in multiple sclerosis

scientific article published on 14 January 2009

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

scientific article

Multippeliskleroosi--geenitutkimus apuna taudin biologisen palapelin kokoamisessa

No evidence for shared etiology in two demyelinative disorders, MS and PLOSL

scientific article

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

scientific article published on 05 December 2019

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

PRKCA and multiple sclerosis: association in two independent populations

scientific article

Pharmacogenomics of hypertension: a genome‐wide, placebo‐controlled cross‐over study, using four classes of antihypertensive drugs

scientific article

Possible association of interleukin 1 gene locus polymorphisms with low back pain.

scientific article published in May 2004

Profiling Genetic Variation along the Androgen Biosynthesis and Metabolism Pathways Implicates Several Single Nucleotide Polymorphisms and Their Combinations as Prostate Cancer Risk Factors

scholarly article by Nina Mononen et al published 15 January 2006 in Cancer Research

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

scientific article

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

scientific article published on 06 May 2019

Segmental duplications flank the multiple sclerosis locus on chromosome 17q.

scientific article published on 15 July 2004

Single nucleotide polymorphism microarray analysis of karyotypically normal acute myeloid leukemia reveals frequent copy number neutral loss of heterozygosity

scientific article published in April 2008

Somatic STAT3 mutations in large granular lymphocytic leukemia ⬇️

scientific article

Somatic mutations and T-cell clonality in patients with immunodeficiency

scientific article published on 19 December 2019

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

scientific article

Stimulating translational research: several European life science institutions put their heads together.

scientific article published on 5 August 2015

Systematic review of genome-wide expression studies in multiple sclerosis

scientific article (publication date: 18 July 2011)

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

The SH2D2A gene and susceptibility to multiple sclerosis

scientific article published on 12 June 2008

The Twin Spine Study: contributions to a changing view of disc degeneration

scientific article published on January 2009

The role of the CD58 locus in multiple sclerosis

scientific article

The short and long forms of type XVIII collagen show clear tissue specificities in their expression and location in basement membrane zones in humans

scientific article published on August 1998

USF1 and dyslipidemias: converging evidence for a functional intronic variant

scientific article published on 2 August 2005

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

scientific article published on 28 September 2017

Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.

scientific article published on 16 February 2009

Variation in interleukin 7 receptor α chain (IL7R) influences risk of multiple sclerosis

Whole genome amplification with Phi29 DNA polymerase to enable genetic or genomic analysis of samples of low DNA yield

scientific article

mtDNA nt13708A variant increases the risk of multiple sclerosis

scientific article

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