• Publications
  • Influence
LOVD v.2.0: the next generation in gene variant databases
Locus‐Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers and clinicians. We developed theExpand
  • 635
  • 76
Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker
Unambiguous and correct sequence variant descriptions are of utmost importance, not in the least since mistakes and uncertainties may lead to undesired errors in clinical diagnosis. We developed theExpand
  • 354
  • 23
LOVD: Easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach
The completion of the human genome project has initiated, as well as provided the basis for, the collection and study of all sequence variation between individuals. Direct access to up‐to‐dateExpand
  • 246
  • 15
The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency
BackgroundThe SDHA, SDHB, SDHC and SDHD genes encode the subunits of succinate dehydrogenase (succinate: ubiquinone oxidoreductase), a component of both the Krebs cycle and the mitochondrialExpand
  • 165
  • 9
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for “the needle in a haystack” to uncover rare,Expand
  • 235
  • 7
  • PDF
Nearly all hereditary paragangliomas in The Netherlands are caused by two founder mutations in the SDHD gene
Hereditary paragangliomas or glomus tumors are usually benign slow‐growing tumors in the head and neck region. The inheritance pattern of hereditary paraganglioma is autosomal dominant withExpand
  • 166
  • 5
SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology
Hereditary head and neck paragangliomas are tumours associated with the autonomic nervous system. Recently, mutations in genes coding for subunits of mitochondrial complex II,Expand
  • 86
  • 5
Deep sequencing to reveal new variants in pooled DNA samples
We evaluated massive parallel sequencing and long‐range PCR (LRP) for rare variant detection and allele frequency estimation in pooled DNA samples. Exons 2 to 16 of the MUTYH gene were analyzed inExpand
  • 81
  • 5
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss
Paraganglioma (PGL) is a rare disorder characterized by tumors of the head and neck region. Between 10% and 50% of cases of PGL are familial, and the disease is autosomal dominant and subject toExpand
  • 77
  • 4
Replication of an incomplete alfalfa mosaic virus genome in plants transformed with viral replicase genes.
RNAs 1 and 2 of alfalfa mosaic virus (AIMV) encode proteins P1 and P2, respectively, both of which have a putative role in viral RNA replication. Tobacco plants were transformed with DNA copies ofExpand
  • 91
  • 3