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Author Details
Full Name
Ilkka Lappalainen
Affiliation
European Bioinformatics Institute
ORCID
Career Start Year
1996
Papers
25
H Index
18
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
30894680
Publisher Correction: Federated discovery and sharing of genomic data using Beacons.
Nat Biotechnol
2019
31520075
Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022.
Nat Rev Genet
2019
31455890
Leveraging European infrastructures to access 1 million human genomes by 2022.
Nat Rev Genet
2019
30069064
Registered access: authorizing data access.
Eur J Hum Genet
2018
30254736
Common ELIXIR Service for Researcher Authentication and Authorisation.
F1000Res
2018
28330491
Orchestrating differential data access for translational research: a pilot implementation.
BMC Med Inform Decis Mak
2017
26111507
The European Genome-phenome Archive of human data consented for biomedical research.
Nat Genet
2015
23193291
DbVar and DGVa: public archives for genomic structural variation.
Nucleic Acids Res
2013
21387463
Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
Hum Mutat
2011
20877315
Public data archives for genomic structural variation.
Nat Genet
2010
19633095
A System for Information Management in BioMedical Studies--SIMBioMS.
Bioinformatics
2009
18022190
Plasticity within the obligatory folding nucleus of an immunoglobulin-like domain.
J Mol Biol
2008
18260110
Genome wide analysis of pathogenic SH2 domain mutations.
Proteins
2008
16760466
Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.
J Biol Chem
2006
14976191
Structure-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 Chem
2004
12429819
Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer.
Lab Invest
2002
12601140
Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.
Protein Eng
2002
11037300
Primary immunodeficiency mutation databases.
Adv Genet
2001
10694488
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
Biochem Biophys Res Commun
2000
10679209
The metal dependence of Bacillus subtilis phytase.
Biochem Biophys Res Commun
2000
10754312
Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.
J Immunol
2000
9399844
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Nucleic Acids Res
1998
9016530
BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Nucleic Acids Res
1997
9338579
Registries of immunodeficiency patients and mutations.
Hum Mutat
1997
8914970
Sequence specificity in CpG mutation hotspots.
FEBS Lett
1996
1 - 25 of 25
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Helen Parkinson
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