I. Fokkema

发表

LOVD v.2.0: the next generation in gene variant databases

Jeroen F. J. Laros, Gerard C. P. Schaafsma, J. T. Dunnen, 2011, Human mutation.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data

Jeroen F. J. Laros, R. Pfundt, G. Thijs, 2019, Human mutation.

Assessing the translational landscape of myogenic differentiation by ribosome profiling

J. Goeman, I. Fokkema, J. D. den Dunnen, 2015, Nucleic acids research.

Leiden open variation database of the MUTYH gene

Peter Devilee, Florentia Fostira, Riccardo Fodde, 2010, Human mutation.

The Finnish Disease Heritage Database (FinDis) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next‐Generation Sequencing Era

I. Fokkema, T. Varilo, Myles Byrne, 2013, Human Mutation.

Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading‐frame rule

G. van Ommen, I. Fokkema, J. D. den Dunnen, 2006, Muscle & nerve.

General considerations

J. T. Dunnen, I. Fokkema, 2021, Clinical DNA Variant Interpretation.

The LOVD3 platform: efficient genome-wide sharing of genetic variants

I. Fokkema, J. D. den Dunnen, M. Kroon, 2021, European Journal of Human Genetics.

Theoretic applicability of antisense‐mediated exon skipping for Duchenne muscular dystrophy mutations

G. van Ommen, I. Fokkema, J. D. den Dunnen, 2009, Human mutation.

LOVD: Easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach

I. Fokkema, P. Taschner, J. D. den Dunnen, 2005, Human mutation.

Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

Kat S. Moore, I. Fokkema, N. Paolini, 2017, bioRxiv.

The KAT6B‐related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms

B. Dawson, R. Gibbs, S. Robertson, 2012, Human mutation.

Therapeutic exon skipping for dysferlinopathies?

J. T. Dunnen, G. van Ommen, I. Fokkema, 2010, European Journal of Human Genetics.

β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays

J. T. Dunnen, I. Fokkema, D. Roos, 2004, European Journal of Human Genetics.

Leiden open variation database of the MUTYH gene

P. Devilee, F. Fostira, I. Fokkema, 2010, Human mutation.

VarioML framework for comprehensive variation data representation and exchange

Morris A. Swertz, Mauno Vihinen, Anthony J. Brookes, 2012, BMC Bioinformatics.