Publications
Journal Article (43)
1.
Journal Article
11 (12), p. 11:144 - 11:144 (2010)
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation. Genome Biology 2.
Journal Article
123 (Pt 24), pp. 4340 - 4350 (2010)
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. Journal of Cell Science 3.
Journal Article
5 (12), p. e15661 - e15661 (2010)
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS ONE 4.
Journal Article
13 (6), pp. 582 - 594 (2010)
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies. 5.
Journal Article
152A (12), pp. 3016 - 3021 (2010)
Brachydactyly type A1 with short humerus and associated skeletal features. American Journal of Medical Genetics Part A 6.
Journal Article
24 (2), pp. 1 - 11 (2010)
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Research 7.
Journal Article
152A (11), pp. 2749 - 2755 (2010)
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. American Journal of Medical Genetics Part A 8.
Journal Article
31 (11), pp. E1851 - E1860 (2010)
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits. Human Mutation 9.
Journal Article
152A (11), pp. 2916 - 2918 (2010)
MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. American Journal of Medical Genetics. Part A. 10.
Journal Article
152A (11), pp. 2832 - 2837 (2010)
A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. American Journal of Medical Genetics Part A 11.
Journal Article
106 (7), pp. 1048 - 1053 (2010)
Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. American Journal of Cardiol 12.
Journal Article
10 (3), pp. 207 - 219 (2010)
The 2nd Berlin BedRest Study: protocol and implementation. Journal of Musculoskeletal and Neuronal Interaction 13.
Journal Article
42 (10), pp. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 14.
Journal Article
42 (10), pp. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 15.
Journal Article
42 (10), pp. 827 - 829 (2010)
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics 16.
Journal Article
344 (2), pp. 1001 - 1010 (2010)
Severe developmental bone phenotype in ClC-7 deficient mice. Developmental Biology 17.
Journal Article
87 (2), pp. 265 - 273 (2010)
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. American Journal of Human Genetics 18.
Journal Article
107 (32), pp. 14211 - 14216 (2010)
Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. Proceedings of the National Academy of Sciences U S A 19.
Journal Article
18 (12), pp. 1310 - 1314 (2010)
Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics 20.
Journal Article
328 (5984), pp. 1401 - 1403 (2010)
Lysosomal pathology and osteopetrosis upon loss of H+-driven lysosomal Cl- accumulation. Science