• Publications
  • Influence
Defining 'chromosomal instability'.
Most scientists agree that the majority of human solid malignant tumors are characterized by chromosomal instability (CIN) involving gain or loss of whole chromosomes or fractions of chromosomes. CINExpand
  • 252
  • 26
  • PDF
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
We have identified a large multigenerational Austrian family displaying a novel form of X-linked recessive myopathy. Affected individuals develop an adult-onset scapulo-axio-peroneal myopathy withExpand
  • 134
  • 10
Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation
PICH (Plk1-interacting checkpoint helicase) was recently identified as an essential component of the spindle assembly checkpoint and shown to localize to kinetochores, inner centromeres, and thinExpand
  • 112
  • 9
Predictive diagnosis of the cancer prone Li–Fraumeni syndrome by accident: new challenges through whole genome array testing
Background: Li–Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members isExpand
  • 38
  • 4
  • PDF
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families
Autism or autism spectrum disorder (ASD) is a range of neurodevelopmental disorders starting in early childhood and is characterized by impairments in communication and reciprocal social interactionExpand
  • 68
  • 3
Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations
Pristauz G, Petru E, Stacher E, Geigl J B, Schwarzbraun T, Tsybrovskyy O, Winter R & Moinfar F
(2010) Histopathology57, 877–884
  • 26
  • 2
Juvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation.
We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. The clinical phenotype of our case is more severe when comparedExpand
  • 20
  • 2
  • PDF
Sporadic gastric Peutz‐Jeghers polyp with intraepithelial neoplasia
Peutz-Jeghers syndrome (PJS) is a rare, autosomal dominantly inherited disease, linked to a germline mutation in the STK11 gene (previously named LKB1) coding for a serine ⁄ threonine kinase onExpand
  • 9
  • 2
Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome
We recently reported the disruption of the inner mitochondrial membrane peptidase 2-like (IMMP2L) gene by a chromosomal breakpoint in a patient with Gilles de la Tourette syndrome (GTS). In theExpand
  • 51
  • 1
Mental retardation in a girl with a subtelomeric deletion on chromosome 20q and complete deletion of the myelin transcription factor 1 gene (MYT1)
A great number of syndromes and inborn errors of metabolism associated with impaired development have been observed, but the aetiology of mental retardation remains unclear in a considerableExpand
  • 15
  • 1