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Chloroplast DNA variation in European white oaks phylogeography and patterns of diversity based on data from over 2600 populations
TLDR
The description of a new western European lineage constitutes a major finding, compared to earlier phylogenetic treatments, and a strong phylogeographic structure is apparent from the data, where related haplotypes have broadly similar geographic distributions. Expand
Identification of refugia and post-glacial colonisation routes of European white oaks based on chloroplast DNA and fossil pollen evidence
TLDR
Drawing conclusions on the location of glacial period refugia and the colonisation routes derived from molecular information and fossil pollen data appear to be both largely compatible and complementary. Expand
Tandem repeats in plant mitochondrial genomes: application to the analysis of population differentiation in the conifer Norway spruce
TLDR
It is demonstrated the utility of two polymorphic mitochondrial tandem repeats located in the second intron of the nad1 gene of Norway spruce to serve as a novel molecular marker for unravelling population processes in plants. Expand
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
TLDR
It is reported for the first time that mutations in CABP4 lead to autosomal recessive CSNB, and it is suggested that the reduced amount of CABp4 is the reason for the signaling defect in these patients. Expand
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome‐related disorders
TLDR
Nine novel and one known heterozygous sequence variants in the TGF BR1 and TGFBR2 genes in nine of 70 unrelated individuals with MFS‐like phenotypes are reported, indicating a causative association between the sequence variants and clinical phenotypes. Expand
Update of the UMD‐FBN1 mutation database and creation of an FBN1 polymorphism database
TLDR
The FBN1 mutation database has recently been modified to follow the guidelines on mutation databases of the HUGO Mutation Database Initiative (MDI) and the Human Genome Variation Society (HGVS), including their approved mutation nomenclature. Expand
Clinical sequencing: is WGS the better WES?
TLDR
WES is the better WES so that capturing is no longer necessary for the most comprehensive genomic testing of Mendelian disorders, and WGS is the best WES from a clinical/technical point of view. Expand
Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome
TLDR
In the majority of patients, early-onset joint abnormalities, including osteoarthritis and osteochondritis dissecans, were the initial symptom for which medical advice was sought, and involved mainly aortic aneurysms and dissections. Expand
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
TLDR
The novel profile identified in this study suggests the existence of more than two rod pathways, which will help to discriminate autosomal recessive from X-linked recessive cases by ERG and molecular genetic analysis. Expand
Chloroplast DNA polymorphisms provide evidence for postglacial re-colonisation of oaks (Quercus spp.) across the Swiss Alps
TLDR
The spatial pattern of chloroplast DNA variation in oaks reveals that oaks did not immigrate into regions of the Swiss Alps together, rather they immigrated separately in space and/or time, and that the spatial mixing of haplotypes as a consequence of seed dispersal was low. Expand
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