The following publications were published exclusively under the affiliation of the Max Planck Society. For publications by the principal investigator outside of the Max Planck Society, see the links on the lower left.
Journal Article (452)
Journal Article
51 (3), pp. 249 - 255 (2002)
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Research
Journal Article
20 (3), pp. 197 - 208 (2002)
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Human Mutation
Journal Article
20 (3), pp. 153 - 161 (2002)
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation
Journal Article
8 (5), pp. 612 - 625 (2002)
Crosslinking of 4.5S RNA to the Escherichia coli ribosome in the presence or absence of the protein Ffh. RNA
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology
Journal Article
22 (5), pp. 404 - 407 (2002)
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenatal Diagnosis
Journal Article
204 (4), pp. 296 - 297 (2002)
Segmental Neurofibromatosis. Dermatology
Journal Article
19 (3), pp. 209 - 216 (2002)
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development Book (1)
Book
Limb Malformations – An Atlas of Genetic Disorders of Limb Development. Springer-Verlag, Berlin, Heidelberg (2014), 767 pp.
Book Chapter (1)
Book Chapter
Exact Score Distribution Computation for Similarity Searches in Ontologies. In: Algorithms in Bioinformatics, pp. 298 - 309 (Eds. Salzberg, S. L.; Warnow, T.). Springer, New York [et al] (2009)
Conference Paper (2)
Conference Paper
136, Article 28, (2020)
Integration of Hi-C and Nanopore Sequencing for Structural Variant Analysis in AML with a Complex Karyotype: (Chromothripsis)². 62nd Annual Meeting and Exposition of the American Society of Hematology (ASH) (Virtual meeting), December 05, 2020 - December 08, 2020. Blood
Conference Paper
Identification of potential regulatory elements in Capture-C interaction profiles. In: Genome Regulation in 3D. Genome Regulation in 3D, Rehovot, Israel, June 28, 2015 - June 30, 2015. Weizmann Institute, Rehovot, Israel (2015)
Talk (1)
Talk
LilBUBome - Why would you crowdfund a cute cat? Open Science Days 2016, Berlin (2016)
Thesis (2)
Thesis
Sequenzierung des LoxP flankierten Exon 6 des Gens Piga im Mausmodell. Humboldt Universität zu Berlin, (2015)
Thesis
Analyse von Mutationen monogener Erkrankungen bezüglich evolutionärer Konservierung und Transkriptionsfaktorbindungsstellen. Freie Universität Berlin (2015)
Thesis - PhD (14)
Thesis - PhD
Single cell sequencing as a phenotyping strategy to decipher the molecular mechanisms of developmental disorder. Dissertation (2023)