Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs by Jan Berghöfer, Nadia Khaveh, Stefan Mundlos, Julia Metzger

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Impact of the COVID-19 pandemic on health care and daily life of patients with rare diseases from the perspective of patient organizations – a qualitative interview study by David Zybarth, Maja Brandt, Christine Mundlos, Laura Inhestern

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Protocol for chromatin accessibility profiling of human endothelial cells cultured under fluid shear stress using ATAC-seq by Lion Raaz, Paul-Lennard Mendez, Stefan Mundlos, Petra Knaus, Jerome Jatzlau

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Differing strain regions and shear forces under cyclic biaxial loading in the Flexercell-strain-unit by Ott, C, Ahrens, S, Bleckwehl, F, Thompson, M, Kornak, U, Duda, G, Mundlos, S

High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice by Emely L. Bortel, Georg N. Duda, Stefan Mundlos, Bettina M. Willie, Peter Fratzl, Paul Zaslansky

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Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin by Osswald Monika, Kossler Nadine, Kühnisch Jirko, Kolanczyk Mateusz, Stumpp Sabine, Thurisch Boris, Kornak Uwe, Mundlos Stefan

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One Gene, Many Facets: Multiple Immune Pathway Dysregulation in SOCS1 Haploinsufficiency by Julia Körholz, Julia Körholz, Anastasia Gabrielyan, John M. Sowerby, John M. Sowerby, Felix Boschann, Lan-Sun Chen, Diana Paul, David Brandt, Janina Kleymann, Martin Kolditz, Nicole Toepfner, Ralf Knöfler, Eva-Maria Jacobsen, Christine Wolf, Karsten Conrad, Nadja Röber, Min Ae Lee-Kirsch, Min Ae Lee-Kirsch, Kenneth G. C. Smith, Kenneth G. C. Smith, Stefan Mundlos, Stefan Mundlos, Stefan Mundlos, Stefan Mundlos, Reinhard Berner, Reinhard Berner, Alexander H. Dalpke, Catharina Schuetz, Catharina Schuetz, William Rae, William Rae

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Osteopoikilosis and multiple exostoses caused by novel mutations in <it>LEMD3 </it>and <it>EXT1 </it>genes respectively - coincidence within one family by Horn Denise, Kolanczyk Mateusz, Jamsheer Aleksander, Baasanjav Sevjidmaa, Latos Tomasz, Hoffmann Katrin, Latos-Bielenska Anna, Mundlos Stefan

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Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach by Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer

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Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. by Tom Kamphans, Peggy Sabri, Na Zhu, Verena Heinrich, Stefan Mundlos, Peter N Robinson, Dmitri Parkhomchuk, Peter M Krawitz

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Biaxial cell stimulation: A mechanical validation. by Bieler, F, Ott, C, Thompson, M, Seidel, R, Ahrens, S, Epari, DR, Wilkening, U, Schaser, K, Mundlos, S, Duda, G

Endochondral ossification in vitro is influenced by mechanical bending. by Trepczik, B, Lienau, J, Schell, H, Epari, DR, Thompson, M, Hoffmann, J, Kadow-Romacker, A, Mundlos, S, Duda, G

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing by Mundlos Stefan, Schell Hanna, Hecht Jochen, Grünhagen Johannes, Ott Claus-Eric, Jäger Marten, Duda Georg N, Robinson Peter N, Lienau Jasmin

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A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. by Lehmann, K, Seemann, P, Silan, F, Goecke, T, Irgang, S, Kjaer, K, Kjaergaard, S, Mahoney, M, Morlot, S, Reissner, C, Kerr, B, Wilkie, A, Mundlos, S

CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. by Seval Türkmen, Gao Guo, Masoud Garshasbi, Katrin Hoffmann, Amjad J Alshalah, Claudia Mischung, Andreas Kuss, Nicholas Humphrey, Stefan Mundlos, Peter N Robinson

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Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to the development of osteoarthritis by Tim Rolvien, Timur A. Yorgan, Uwe Kornak, Irm Hermans-Borgmeyer, Stefan Mundlos, Tobias Schmidt, Andreas Niemeier, Thorsten Schinke, Michael Amling, Ralf Oheim

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Fluid shear stress-modulated chromatin accessibility reveals the mechano-dependency of endothelial SMAD1/5-mediated gene transcription by Jerome Jatzlau, Paul-Lennard Mendez, Aybuge Altay, Lion Raaz, Yufei Zhang, Sophia Mähr, Akin Sesver, Maria Reichenbach, Stefan Mundlos, Martin Vingron, Petra Knaus

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Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. by Ivana Jerković, Daniel M Ibrahim, Guillaume Andrey, Stefan Haas, Peter Hansen, Catrin Janetzki, Irene González Navarrete, Peter N Robinson, Jochen Hecht, Stefan Mundlos

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Doxorubicin Changes the Spatial Organization of the Genome around Active Promoters by Maria E. Stefanova, Elizabeth Ing-Simmons, Stefan Stefanov, Ilya Flyamer, Heathcliff Dorado Garcia, Robert Schöpflin, Anton G. Henssen, Juan M. Vaquerizas, Stefan Mundlos

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Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. by Kurth, I, Klopocki, E, Stricker, S, van Oosterwijk, J, Vanek, S, Altmann, J, Santos, H, van Harssel, J, de Ravel, T, Wilkie, A, Gal, A, Mundlos, S