Ilkka Lappalainen

Ilkka Lappalainen

Variation Archive Project Leader - Paschall team: Variation
Visitor - ELIXIR directorate

ORCID iD: 0000-0001-5762-893X

Tel:+ 44 (0) 1223 492 630 / Fax:+44 (0)1223 48 46 96

Publications

2013

DbVar and DGVa: public archives for genomic structural variation.
Lappalainen I, Lopez J, Skipper L, Hefferon T, Spalding JD, Garner J, Chen C, Maguire M, Corbett M, Zhou G, Paschall J, Ananiev V, Flicek P, Church DM.
Nucleic Acids Res Volume 41 (2013) p.d936-41
DOI: 10.1093/nar/gks1213

2011

Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.
Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Møller P, Morreau H, Möslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N, Woods MO, Contributors to the InSiGHT-HVP Workshop.
Hum Mutat Volume 32 (2011) p.491-494
DOI: 10.1002/humu.21450

2010

Public data archives for genomic structural variation.
Church DM, Lappalainen I, Sneddon TP, Hinton J, Maguire M, Lopez J, Garner J, Paschall J, DiCuccio M, Yaschenko E, Scherer SW, Feuk L, Flicek P.
Nat Genet Volume 42 (2010) p.813-814
DOI: 10.1038/ng1010-813

2009

A System for Information Management in BioMedical Studies--SIMBioMS.
Krestyaninova M, Zarins A, Viksna J, Kurbatova N, Rucevskis P, Neogi SG, Gostev M, Perheentupa T, Knuuttila J, Barrett A, Lappalainen I, Rung J, Podnieks K, Sarkans U, McCarthy MI, Brazma A.
Bioinformatics Volume 25 (2009) p.2768-2769
DOI: 10.1093/bioinformatics/btp420

2008

Plasticity within the obligatory folding nucleus of an immunoglobulin-like domain.
Lappalainen I, Hurley MG, Clarke J.
J Mol Biol Volume 375 (2008) p.547-559
DOI: 10.1016/j.jmb.2007.09.088

Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I, Thusberg J, Shen B, Vihinen M.
Proteins Volume 72 (2008) p.779-792
DOI: 10.1002/prot.21970

2006

Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.
Randles LG, Lappalainen I, Fowler SB, Moore B, Hamill SJ, Clarke J.
J Biol Chem Volume 281 (2006) p.24216-24226
DOI: 10.1074/jbc.m603593200

2004

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.
Vitikainen M, Lappalainen I, Seppala R, Antelmann H, Boer H, Taira S, Savilahti H, Hecker M, Vihinen M, Sarvas M, Kontinen VP.
J Biol Chem Volume 279 (2004) p.19302-19314
DOI: 10.1074/jbc.m400861200

2002

Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer.
Hyytinen ER, Haapala K, Thompson J, Lappalainen I, Roiha M, Rantala I, Helin HJ, Jänne OA, Vihinen M, Palvimo JJ, Koivisto PA.
Lab Invest Volume 82 (2002) p.1591-1598

Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.
Lappalainen I, Vihinen M.
Protein Eng Volume 15 (2002) p.1005-1014
DOI: 10.1093/protein/15.12.1005

2001

Primary immunodeficiency mutation databases.
Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI.
Adv Genet Volume 43 (2001) p.103-188
DOI: 10.1016/s0065-2660(01)43005-7

2000

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.
Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M.
Biochem Biophys Res Commun Volume 269 (2000) p.124-130
DOI: 10.1006/bbrc.2000.2146

The metal dependence of Bacillus subtilis phytase.
Kerovuo J, Lappalainen I, Reinikainen T.
Biochem Biophys Res Commun Volume 268 (2000) p.365-369
DOI: 10.1006/bbrc.2000.2131

Six X-linked agammaglobulinemia-causing missense mutations in the Src homology 2 domain of Bruton's tyrosine kinase: phosphotyrosine-binding and circular dichroism analysis.
Mattsson PT, Lappalainen I, Bäckesjö CM, Brockmann E, Laurén S, Vihinen M, Smith CI.
J Immunol Volume 164 (2000) p.4170-4177
DOI: 10.4049/jimmunol.164.8.4170

1998

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Vihinen M, Brandau O, Brandén LJ, Kwan SP, Lappalainen I, Lester T, Noordzij JG, Ochs HD, Ollila J, Pienaar SM, Riikonen P, Saha BK, Smith CI.
Nucleic Acids Res Volume 26 (1998) p.242-247
DOI: 10.1093/nar/26.1.242

1997

Registries of immunodeficiency patients and mutations.
Lappalainen I, Ollila J, Smith CI, Vihinen M.
Hum Mutat Volume 10 (1997) p.261-267
DOI: 10.1002/(sici)1098-1004(1997)10:4<261::aid-humu1>3.3.co;2-w

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
Vihinen M, Belohradsky BH, Haire RN, Holinski-Feder E, Kwan SP, Lappalainen I, Lehväslaiho H, Lester T, Meindl A, Ochs HD, Ollila J, Vorechovsky I, Weiss M, Smith CI.
Nucleic Acids Res Volume 25 (1997) p.166-171
DOI: 10.1093/nar/25.1.166

1996

Sequence specificity in CpG mutation hotspots.
Ollila J, Lappalainen I, Vihinen M.
FEBS Lett Volume 396 (1996) p.119-122
DOI: 10.1016/0014-5793(96)01075-7