I. Lappalainen

发表

Human Pathogenic Mutations in Protein Domains

I. Lappalainen, 2004 .

Using Model Proteins to Quantify the Effects of Pathogenic Mutations in Ig-like Proteins*♦

Jane Clarke, Ilkka Lappalainen, J. Clarke, 2006, Journal of Biological Chemistry.

Deciphering the colon cancer genes—report of the InSiGHT‐Human Variome Project Workshop, UNESCO, Paris 2010

D. Maglott, N. de Wind, P. Møller, 2011, Human mutation.

Registered access: authorizing data access

Alan C. Evans, J. D. Spalding, A. Philippakis, 2018, European Journal of Human Genetics.

Leveraging European infrastructures to access 1 million human genomes by 2022

Arcadi Navarro, Søren Brunak, Jaap Heringa, 2019, Nature Reviews Genetics.

Primary immunodeficiency mutation databases.

M Vihinen, A Etzioni, K. Schwarz, 2001, Advances in genetics.

Six X-Linked Agammaglobulinemia-Causing Missense Mutations in the Src Homology 2 Domain of Bruton’s Tyrosine Kinase: Phosphotyrosine-Binding and Circular Dichroism Analysis1

M. Vihinen, I. Lappalainen, C. I. Smith, 2000, The Journal of Immunology.

The European Genome-phenome Archive of human data consented for biomedical research

Arcadi Navarro, Ignacio Medina, Thomas Laurent, 2015, Nature Genetics.

Dichroism Analysis Phosphotyrosine-Binding and Circular Domain of Bruton's Tyrosine Kinase: Missense Mutations in the Src Homology 2 Six X-Linked Agammaglobulinemia-Causing

I. Lappalainen, C. I. Smith, E. Brockmann, 2000 .

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*

M. Hecker, M. Vihinen, M. Sarvas, 2004, Journal of Biological Chemistry.

Registries of immunodeficiency patients and mutations

M. Vihinen, J. Ollila, I. Lappalainen, 1997, Human mutation.

Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022

E. Birney, S. Brunak, H. Parkinson, 2019, Nature Reviews Genetics.

Pattern of Somatic Androgen Receptor Gene Mutations in Patients with Hormone-Refractory Prostate Cancer

M. Vihinen, P. Koivisto, O. Jänne, 2002, Laboratory Investigation.

The metal dependence of Bacillus subtilis phytase.

T. Reinikainen, I. Lappalainen, J. Kerovuo, 2000, Biochemical and biophysical research communications.

Molecular Mechanisms Underlying Tooth Morphogenesis and Cell Differentiation Dissertationes Biocentri Viikki Universitatis Helsingiensis Helsinki 2004 ISSN 1239-9469 ISBN 952-10-1961-1

I. Lappalainen, H. Kivelä, Xiu-ping Wang, 2004 .

Production and Use of Mammalian Glycosyltransferases

I. Lappalainen, Anne Olonen, J. Leino, 2004 .

dbVar and DGVa: public archives for genomic structural variation

Chao Chen, Deanna M. Church, Paul Flicek, 2012, Nucleic Acids Res..

Structural basis of ICF-causing mutations in the methyltransferase domain of DNMT3B.

M. Vihinen, I. Lappalainen, 2002, Protein engineering.

Genome wide analysis of pathogenic SH2 domain mutations

Bairong Shen, Mauno Vihinen, Ilkka Lappalainen, 2008, Proteins.

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease.

M. Vihinen, L. Notarangelo, S. Giliani, 2000, Biochemical and biophysical research communications.

Public data archives for genomic structural variation

Michael DiCuccio, Paul Flicek, Ilkka Lappalainen, 2010, Nature Genetics.

Federated discovery and sharing of genomic data using Beacons

David Haussler, Angela Page, Mikael Linden, 2019, Nature Biotechnology.

Sequence specificity in CpG mutation hotspots

M Vihinen, M. Vihinen, J. Ollila, 1996, FEBS letters.

Common ELIXIR Service for Researcher Authentication and Authorisation

Alexander Sczyrba, Ludek Matyska, Mikael Linden, 2018, F1000Research.

Registered access: authorizing data access

Alan C. Evans, J. D. Spalding, A. Philippakis, 2018, European Journal of Human Genetics.

Orchestrating differential data access for translational research: a pilot implementation

Klaus A. Kuhn, Marco Brandizi, Mikael Linden, 2017, BMC Medical Informatics and Decision Making.

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Mauno Vihinen, Pentti Riikonen, Ilkka Lappalainen, 1998, Nucleic Acids Res..

Federated discovery and sharing of genomic data using Beacons

J. D. Spalding, D. Haussler, P. Flicek, 2019, Nature Biotechnology.

Annotation and curation of human genomic variations: an ELIXIR Implementation Study

Marcella Attimonelli, Fiona Cunningham, Roberto Preste, 2020, F1000Research.

A System for Information Management in BioMedical Studies—SIMBioMS

Karlis Podnieks, Andris Zarins, Mark I. McCarthy, 2009, Bioinform..

BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

M. Vihinen, H. Ochs, J. Ollila, 1996, Nucleic acids research.

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Mauno Vihinen, Christine Kinnon, Igor Vorechovsky, 1996, Nucleic Acids Res..

Plasticity Within the Obligatory Folding Nucleus of an Immunoglobulin-like Domain

J. Clarke, I. Lappalainen, Michael G. Hurley, 2008, Journal of molecular biology.