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

por Zybarth, David, Brandt, Maja, Mundlos, Christine, Inhestern, Laura
Publicado 2023

TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs

por Hertzberg, Jakob, Mundlos, Stefan, Vingron, Martin, Gallone, Giuseppe
Publicado 2022

Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs

por Berghöfer, Jan, Khaveh, Nadia, Mundlos, Stefan, Metzger, Julia
Publicado 2022

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

por Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Publicado 2015

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

por Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N, Krawitz, Peter M
Publicado 2017

High resolution 3D laboratory x-ray tomography data of femora from young, 1–14 day old C57BL/6 mice

por Bortel, Emely L., Duda, Georg N., Mundlos, Stefan, Willie, Bettina M., Fratzl, Peter, Zaslansky, Paul
Publicado 2015

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

por Penzkofer, Tobias, Jäger, Marten, Figlerowicz, Marek, Badge, Richard, Mundlos, Stefan, Robinson, Peter N., Zemojtel, Tomasz
Publicado 2017

Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin

por Kolanczyk, Mateusz, Kühnisch, Jirko, Kossler, Nadine, Osswald, Monika, Stumpp, Sabine, Thurisch, Boris, Kornak, Uwe, Mundlos, Stefan
Publicado 2008

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

por Baasanjav, Sevjidmaa, Jamsheer, Aleksander, Kolanczyk, Mateusz, Horn, Denise, Latos, Tomasz, Hoffmann, Katrin, Latos-Bielenska, Anna, Mundlos, Stefan
Publicado 2010

The Genetic Basis of Moyamoya Disease

por Mertens, R., Graupera, M., Gerhardt, H., Bersano, A., Tournier-Lasserve, E., Mensah, M. A., Mundlos, S., Vajkoczy, P.
Publicado 2021

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

por Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M.
Publicado 2013

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH

por Klopocki, Eva, Graul-Neumann, Luitgard M., Grieben, Ulrike, Tönnies, Holger, Ropers, Hans-Hilger, Horn, Denise, Mundlos, Stefan, Ullmann, Reinhard
Publicado 2007

se-atlas.de – Versorgungsatlas für Menschen mit Seltenen Erkrankungen

por Neff, Michaela, Schaaf, Jannik, Tegtbauer, Niels, Schäfer, Johanna, Till, Manuela, Wagner, Thomas O. F., Graeßner, Holm, Mundlos, Christine, Storf, Holger
Publicado 2021

Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)

por Boschann, Felix, Moreno, Daniel Acero, Mensah, Martin A., Sczakiel, Henrike L., Skipalova, Karolina, Holtgrewe, Manuel, Mundlos, Stefan, Fischer-Zirnsak, Björn
Publicado 2022

Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing

por Jäger, Marten, Ott, Claus-Eric, Grünhagen, Johannes, Hecht, Jochen, Schell, Hanna, Mundlos, Stefan, Duda, Georg N, Robinson, Peter N, Lienau, Jasmin
Publicado 2011

Combining callers improves the detection of copy number variants from whole-genome sequencing

por Coutelier, Marie, Holtgrewe, Manuel, Jäger, Marten, Flöttman, Ricarda, Mensah, Martin A., Spielmann, Malte, Krawitz, Peter, Horn, Denise, Beule, Dieter, Mundlos, Stefan
Publicado 2021

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

por Türkmen, Seval, Guo, Gao, Garshasbi, Masoud, Hoffmann, Katrin, Alshalah, Amjad J., Mischung, Claudia, Kuss, Andreas, Humphrey, Nicholas, Mundlos, Stefan, Robinson, Peter N.
Publicado 2009

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process

por Heinrich, Verena, Stange, Jens, Dickhaus, Thorsten, Imkeller, Peter, Krüger, Ulrike, Bauer, Sebastian, Mundlos, Stefan, Robinson, Peter N., Hecht, Jochen, Krawitz, Peter M.
Publicado 2012

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

por Schreiber, Isabelle, Dörpholz, Gina, Ott, Claus-Eric, Kragesteen, Bjørt, Schanze, Nancy, Lee, Cory Thomas, Köhrle, Josef, Mundlos, Stefan, Ruschke, Karen, Knaus, Petra
Publicado 2017

GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution

por Hansen, Peter, Ali, Salaheddine, Blau, Hannah, Danis, Daniel, Hecht, Jochen, Kornak, Uwe, Lupiáñez, Darío G., Mundlos, Stefan, Steinhaus, Robin, Robinson, Peter N.
Publicado 2019