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Author Details

Eija Hämäläinen
1992
45
26
PMIDPaper TitleJournal TitlePublished Year
36653343Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure.Nat Commun2023
35087184A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development.Eur J Hum Genet2022
35396579Rare coding variants in ten genes confer substantial risk for schizophrenia.Nature2022
36038634Large-scale sequencing identifies multiple genes and rare variants associated with Crohn's disease susceptibility.Nat Genet2022
35760976The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.Nat Commun2022
35166138is a novel candidate gene for migraine-epilepsy phenotype.Cephalalgia2022
34648375Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families.Cephalalgia2022
30679432Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.Nat Commun2019
29731251Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.Neuron2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
30189203Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.Neuron2018
29861106Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.Am J Hum Genet2018
29486580The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families.Cephalalgia2018
27681292Corrigendum: Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.Nat Genet2016
27322543Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.Nat Genet2016
27465585Pitfalls in genetic testing: the story of missed SCN1A mutations.Mol Genet Genomic Med2016
26501104Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.EBioMedicine2015
27066539Genetic analysis for a shared biological basis between migraine and coronary artery disease.Neurol Genet2015
25078778Distribution and medical impact of loss-of-function variants in the Finnish founder population.PLoS Genet2014
23793025Genome-wide meta-analysis identifies new susceptibility loci for migraine.Nat Genet2013
22683712Genome-wide association analysis identifies susceptibility loci for migraine without aura.Nat Genet2012
20628147The first trimester human placenta is a site for terminal maturation of primitive erythroid cells.Blood2010
20844574An immune response network associated with blood lipid levels.PLoS Genet2010
20802479Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.Nat Genet2010
20725990Use of cancer-specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumors.Genes Chromosomes Cancer2010
21179014Metabonomic, transcriptomic, and genomic variation of a population cohort.Molecular Systems Biology2010
20385888A visual migraine aura locus maps to 9q21-q22.Neurology2010
19558538Genetic association study of endothelin-1 and its receptors EDNRA and EDNRB in migraine with aura.Cephalalgia2009
18423523Consistently replicating locus linked to migraine on 10q22-q23.Am J Hum Genet2008
17580321No association of migraine to the GABA-A receptor complex on chromosome 15.American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics2008
18676988A high-density association screen of 155 ion transport genes for involvement with common migraine.Hum Mol Genet2008
17331699The enhancement of homogenous mass extension reaction: comparison of two enzymes.Molecular and Cellular Probes2007
17116097Testing of variants of the MTHFR and ESR1 genes in 1798 Finnish individuals fails to confirm the association with migraine with aura.Cephalalgia2006
16773568Trait components provide tools to dissect the genetic susceptibility of migraine.American Journal of Human Genetics2006
15449251Chromosome 19p13 loci in Finnish migraine with aura families.Am J Med Genet B Neuropsychiatr Genet2005
15133718A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2.Neurogenetics2004
14530926Novel splice site CACNA1A mutation causing episodic ataxia type 2.Neurogenetics2004
14562282Chromosome 22q alterations and expression of the NF2 gene product, merlin, in gastrointestinal stromal tumors.Human Pathology2003
11836652A susceptibility locus for migraine with aura, on chromosome 4q24.Am J Hum Genet2002
9028951Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.Blood1997
9241733Molecular mechanisms of mutations in factor XIII A-subunit deficiency: in vitro expression in COS-cells demonstrates intracellular degradation of the mutant proteins.Thrombosis and Haemostasis1997
8025280Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels.Blood1994
8360499Microtiter plate assay for measuring the anticomplementary activity of immunoglobulins.Journal of Immunological Methods1993
8384392Have you validated your program for autoclaving chromatography gels?Vox Sanguinis1993
1329353Virus inactivation during intravenous immunoglobulin production.Vox Sanguinis1992
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University of Oxford
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Erasmus University Medical Center
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Harvard T.H. Chan School of Public Health
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