Publications
Journal Article (14)
1.
Journal Article
2012, p. e - e (2012)
Identification of a Novel Missense Mutation in EDAR Causing Autosomal Recessive Hypohidrotic Ectodermal Dysplasia with Bilateral Amastia and Palmoplantar Hyperkeratosis. British Journal of Dermatology 2.
Journal Article
2012, p. e - e (2012)
Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 3.
Journal Article
131 (11), pp. 1761 - 1773 (2012)
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics 4.
Journal Article
51 (4), pp. 651 - 660 (2012)
Deterioration of fracture healing in the mouse model of NF1 long bone dysplasia. Bone 5.
Journal Article
91 (4), pp. 629 - 635 (2012)
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 6.
Journal Article
91 (1), pp. 146 - 151 (2012)
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics 7.
Journal Article
49 (7), pp. 437 - 441 (2012)
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics (London) 8.
Journal Article
20 (7), pp. 754 - 761 (2012)
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 9.
Journal Article
20 (6), pp. 705 - 708 (2012)
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European journal og human genetics: EJHG ; the official journal of the European Society of Human Genetics 10.
Journal Article
40 (6), pp. 2426 - 2431 (2012)
The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process. Nucleic Acids Research (London) 11.
Journal Article
287 (9), pp. 6318 - 6325 (2012)
Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry 12.
Journal Article
49 (2), pp. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics (London) 13.
Journal Article
49 (2), pp. 119 - 125 (2012)
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 14.
Journal Article
21 (4), pp. 623 - 633 (2012)
Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells and Development Thesis - PhD (3)
15.
Thesis - PhD
From Skeletal Diseases to Bone Regeneration: Analysis of Agonist-Antagonist Interactions for Design of tailored bone Morphogenetic Protein2 Variants with improved biological activity. Dissertation (2012)
16.
Thesis - PhD
Penotype informatics: Network approaches towards understanding the diseasome. Dissertation (2012)
17.
Thesis - PhD
Molecular basis of Gerodermia Osteodysplastica, apremature ageing disorder. Dissertation (2012)
Thesis - Master (1)
18.
Thesis - Master
Potential downstream targets regulated by OSR I in the chicken connective tissue. Master (2012)
Thesis - Bachelor (2)
19.
Thesis - Bachelor
Untersuchung der Polydaktylie; Analyse der knock-in Mausmutante Hoxd13 +21 Alanin. Bachelor (2012)
20.
Thesis - Bachelor
Identification and validation of variant calls in a gene panel screen. Bachelor (2012)