List of works - Ilkka Lappalainen

4 Primary immunodeficiency mutation databases

article

A System for Information Management in BioMedical Studies--SIMBioMS.

scientific article

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

scientific article published on 01 November 2019

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

scientific article

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

article

Common ELIXIR Service for Researcher Authentication and Authorisation

DbVar and DGVa: public archives for genomic structural variation

scientific article (publication date: 2013)

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

scientific article published on 8 March 2011

Federated discovery and sharing of genomic data using Beacons

scientific article published on 01 March 2019

Genome wide analysis of pathogenic SH2 domain mutations

scientific article

Leveraging European infrastructures to access 1 million human genomes by 2022

scientific article published on 27 August 2019

Orchestrating differential data access for translational research: a pilot implementation

scientific article

Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer

scientific article published in November 2002

Plasticity within the obligatory folding nucleus of an immunoglobulin-like domain

scientific article published on 4 October 2007

Public data archives for genomic structural variation

scientific article

Registered access: authorizing data access

scientific article published on 2 August 2018

Sequence specificity in CpG mutation hotspots

scientific article

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

article

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

scientific article published on March 2000

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

scientific article

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

scientific article published on 19 February 2004

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

scientific article

The Metal Dependence of Bacillus subtilis Phytase

scientific article published in 2000

Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins

scientific article published on 7 June 2006

List of works by Ilkka Lappalainen

4 Primary immunodeficiency mutation databases

A System for Information Management in BioMedical Studies--SIMBioMS.

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

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

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

Common ELIXIR Service for Researcher Authentication and Authorisation

DbVar and DGVa: public archives for genomic structural variation

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

Federated discovery and sharing of genomic data using Beacons

Genome wide analysis of pathogenic SH2 domain mutations

Leveraging European infrastructures to access 1 million human genomes by 2022

Orchestrating differential data access for translational research: a pilot implementation

Pattern of somatic androgen receptor gene mutations in patients with hormone-refractory prostate cancer

Plasticity within the obligatory folding nucleus of an immunoglobulin-like domain

Public data archives for genomic structural variation

Registered access: authorizing data access

Sequence specificity in CpG mutation hotspots

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

Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease

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

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

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

The Metal Dependence of Bacillus subtilis Phytase

Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins