Bjørt K. Kragesteen

发表

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

D. Nickerson, S. Leal, D. Horn, 2019, Human Genetics.

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.

Stefan Mundlos, Malte Spielmann, Guillaume Andrey, 2015, Cell reports.

LGR5 expressing skin fibroblasts define a major cellular hub perturbed in scleroderma

I. Amit, Amir Giladi, Diego Jaitin, 2022, Cell.

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

A. Visel, S. Mundlos, M. Spielmann, 2018, Nature Genetics.

Position effects at the FGF8 locus are associated with femoral hypoplasia.

S. Mundlos, M. Spielmann, M. Vingron, 2021, American journal of human genetics.

Noncoding copy-number variations are associated with congenital limb malformation

D. Horn, S. Mundlos, M. Spielmann, 2017, Genetics in Medicine.

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

Martin Vingron, Axel Visel, Simona Bianco, 2018, Nature Genetics.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly

D. Nickerson, S. Leal, D. Horn, 2019, Human Genetics.

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

S. Mundlos, M. Spielmann, M. Digilio, 2019, Journal of Medical Genetics.

BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation

S. Mundlos, C. Ott, J. Köhrle, 2017, Scientific Reports.

The transcriptional and regulatory identity of erythropoietin producing cells

I. Amit, Fernando Racimo, Amir Giladi, 2023, Nature Medicine.

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

S. Mundlos, M. Spielmann, P. Krawitz, 2017, Journal of Medical Genetics.

A Dynamic Chromatin Architecture Modulates Pitx1 Gene Regulation in Limb Development and Disease

Bjørt K. Kragesteen, 2018 .