Publications
Journal Article (17)
1.
Journal Article
97 (6), pp. 922 - 932 (2015)
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 2.
Journal Article
36 (12), pp. 1176 - 1187 (2015)
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 3.
Journal Article
23 (10), pp. 1308 - 1317 (2015)
Redefining the MED13L syndrome. European journal of human genetics 4.
Journal Article
135 (10), pp. 2368 - 2376 (2015)
GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology: an International Journal for Research in Cutaneous Biology 5.
Journal Article
97 (3), pp. 483 - 492 (2015)
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. The American Journal of Human Genetics 6.
Journal Article
58 (8), pp. 376 - 380 (2015)
FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 7.
Journal Article
36 (8), pp. 815 - 822 (2015)
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 8.
Journal Article
60 (8), pp. 419 - 425 (2015)
Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? JOURNAL OF HUMAN GENETICS 9.
Journal Article
52 (7), pp. 476 - 483 (2015)
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 10.
Journal Article
23 (6), pp. 1870 - 1873 (2015)
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 11.
Journal Article
47 (6), pp. 647 - 653 (2015)
PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics 12.
Journal Article
36 (6), pp. 593 - 598 (2015)
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutations 13.
Journal Article
161 (5), pp. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 14.
Journal Article
73, pp. 111 - 119 (2015)
Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Bone 15.
Journal Article
10 (3), e0119030 (2015)
Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. PLoS One 16.
Journal Article
10 (5), pp. 833 - 839 (2015)
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports 17.
Journal Article
23, 720 (2015)
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European journal of human genetics Conference Paper (1)
18.
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)
Thesis (2)
19.
Thesis
Sequenzierung des LoxP flankierten Exon 6 des Gens Piga im Mausmodell. Humboldt Universität zu Berlin, (2015)
20.
Thesis
Analyse von Mutationen monogener Erkrankungen bezüglich evolutionärer Konservierung und Transkriptionsfaktorbindungsstellen. Freie Universität Berlin (2015)