• Publications
  • Influence
Karyotyping human chromosomes by combinatorial multi-fluor FISH
TLDR
The data suggest that multiplex-fluorescence in situ hybridization (M-FISH) could have wide clinical utility and complement standard cytogenetics, particularly for the characterization of complex karyotypes.
Mutations in GNA11 in uveal melanoma.
TLDR
Constitutive activation of the pathway involving these two genes appears to be a major contributor to the development of uveal melanoma.
Three-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes
TLDR
Modeling of 3D CT arrangements suggests that cell-type-specific differences in radial CT arrangements are not solely due to geometrical constraints that result from nuclear shape differences, and gene-density-correlated arrangements of higher-order chromatin shared by all human cell types studied so far are found.
The new cytogenetics: blurring the boundaries with molecular biology
TLDR
Cytogenetic analysis now extends beyond the simple description of the chromosomal status of a genome and allows the study of fundamental biological questions, such as the nature of inherited syndromes, the genomic changes that are involved in tumorigenesis and the three-dimensional organization of the human genome.
A survey of tools for variant analysis of next-generation genome sequencing data
TLDR
A comprehensive survey and evaluation of NGS tools provides a valuable guideline for human geneticists working on Mendelian disorders, complex diseases and cancers.
Germline mutations in BAP1 predispose to melanocytic tumors
TLDR
Two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors are described, suggesting that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytics neoplasm.
Defining 'chromosomal instability'.
Chromosomal translocations are associated with poor prognosis in chronic lymphocytic leukemia.
TLDR
A new subgroup of patients with CLL defined by chromosomal trans-locations and poor prognosis is identified, and complex karyotype, CD38 expression, and 17p deletions-translocation proved to be the prognostic marker with the highest impact for an unfavorable clinical outcome.
...
1
2
3
4
5
...