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Author Details

Ilkka Lappalainen
European Bioinformatics Institute
1996
25
18
PMIDPaper TitleJournal TitlePublished Year
30894680Publisher Correction: Federated discovery and sharing of genomic data using Beacons.Nat Biotechnol2019
31520075Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
31455890Leveraging European infrastructures to access 1 million human genomes by 2022.Nat Rev Genet2019
30069064Registered access: authorizing data access.Eur J Hum Genet2018
30254736Common ELIXIR Service for Researcher Authentication and Authorisation.F1000Res2018
28330491Orchestrating differential data access for translational research: a pilot implementation.BMC Med Inform Decis Mak2017
26111507The European Genome-phenome Archive of human data consented for biomedical research.Nat Genet2015
23193291DbVar and DGVa: public archives for genomic structural variation.Nucleic Acids Res2013
21387463Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.Hum Mutat2011
20877315Public data archives for genomic structural variation.Nat Genet2010
19633095A System for Information Management in BioMedical Studies--SIMBioMS.Bioinformatics2009
18022190Plasticity within the obligatory folding nucleus of an immunoglobulin-like domain.J Mol Biol2008
18260110Genome wide analysis of pathogenic SH2 domain mutations.Proteins2008
16760466Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.J Biol Chem2006
14976191Structure-function analysis of PrsA reveals roles for the parvulin-like and flanking N- and C-terminal domains in protein folding and secretion in Bacillus subtilis.J Biol Chem2004
12429819Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer.Lab Invest2002
12601140Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.Protein Eng2002
11037300Primary immunodeficiency mutation databases.Adv Genet2001
10694488Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.Biochem Biophys Res Commun2000
10679209The metal dependence of Bacillus subtilis phytase.Biochem Biophys Res Commun2000
10754312Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.J Immunol2000
9399844BTKbase, mutation database for X-linked agammaglobulinemia (XLA).Nucleic Acids Res1998
9016530BTKbase, mutation database for X-linked agammaglobulinemia (XLA)Nucleic Acids Res1997
9338579Registries of immunodeficiency patients and mutations.Hum Mutat1997
8914970Sequence specificity in CpG mutation hotspots.FEBS Lett1996
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Collaborators

Lund University
Co-authored papers 11
European Bioinformatics Institute
Co-authored papers 7
Universitat Pompeu Fabra
Co-authored papers 5
CSC - IT Center for Science Ltd
Co-authored papers 5
Pfizer Ltd
Co-authored papers 4
University of Zurich
Co-authored papers 4
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Co-authored papers 4
European Bioinformatics Institute
Co-authored papers 4
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 4
Universitat Tubingen, Institut fur Arbeitsmedizin
Co-authored papers 3
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Barcelonabeta Brain Research Center (BBRC), Pasqual Maragall Foundation
Co-authored papers 3
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 3
Ontario Institute for Cancer Research
Co-authored papers 3
Broad Institute
Co-authored papers 3
Novo Nordisk Foundation Center for Protein Research, University of Copenhagen
Co-authored papers 2
European Bioinformatics Institute
Co-authored papers 2
Hospital Universitari Vall d'Hebron
Co-authored papers 2
University of Manchester
Co-authored papers 2
European Bioinformatics Institute (EMBL-EBI)
Co-authored papers 2
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National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 2
University of Leicester
Co-authored papers 2
Co-authored papers 2
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
Co-authored papers 2
Spanish National Bioinformatics Institute (INB/ELIXIR-ES)
Co-authored papers 2
Present address: Inscripta Inc.
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VU University Amsterdam
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European Bioinformatics Institute
Co-authored papers 2
European Bioinformatics Institute
Co-authored papers 2