Noncoding copy-number variations are associated with congenital limb malformation.

Ricarda Flöttmann , Bjørt K Kragesteen , Sinje Geuer , Magdalena Socha
Genetics in Medicine 20 ( 6) 599 -607

21
2018
Response to Peron et al.

Bjørt K Kragesteen , Denis Duboule , Stefan Mundlos , Malte Spielmann
Genetics in Medicine 20 ( 11) 1481 -1482

2
2018
Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

Malte Spielmann , Luis R Hernandez-Miranda , Isabella Ceccherini , Debra E Weese-Mayer
Journal of Medical Genetics 54 ( 11) 754 -761

10
2017
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

Bjørt K Kragesteen , Francesco Brancati , Maria Cristina Digilio , Stefan Mundlos
Journal of Medical Genetics 56 ( 4) 246 -251

10
2019
Position effects at the FGF8 locus are associated with femoral hypoplasia

Magdalena Socha , Anna Sowińska-Seidler , Uirá Souto Melo , Bjørt K Kragesteen
The American Journal of Human Genetics 108 ( 9) 1725 -1734

5
2021
LGR5 expressing skin fibroblasts define a major cellular hub perturbed in scleroderma

Chamutal Gur , Shuang-Yin Wang , Fadi Sheban , Mor Zada
Cell 185 ( 8) 1373 -1388. e20

71
2022
The transcriptional and regulatory identity of erythropoietin producing cells

Bjørt K Kragesteen , Amir Giladi , Eyal David , Shahar Halevi
Nature medicine 29 ( 5) 1191 -1200

22
2023
Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

Bjørt K Kragesteen , Malte Spielmann , Christina Paliou , Verena Heinrich
Nature Genetics 50 1463 -1473

172
2018
Variants in KIAA0825 Underlie Autosomal Recessive Postaxial Polydactyly

Irfan Ullah , Naseebullah Kakar , Isabelle Schrauwen , Shabir Hussain
Human Genetics 138 ( 6) 593 -600

7
2019
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

Katerina Kraft , Sinje Geuer , Anja J. Will , Wing Lee Chan
Cell Reports 10 ( 5) 833 -839

130
2015
BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation.

Isabelle Schreiber , Gina Dörpholz , Claus-Eric Ott , Bjørt Kragesteen
Scientific Reports 7 ( 1) 17192

23
2017
Changes in chromatin interaction dynamics at the PITX1 locus cause congenital limb malformations

M Spielmann , B Kragesteen , C Paliou , R Schoepflin
EUROPEAN JOURNAL OF HUMAN GENETICS 26 43 -43

2018
Heads or tails: histone tail clipping regulates macrophage activity

Ido Amit , Bjørt K. Kragesteen
Nature Immunology 22 ( 6) 678 -680

2021