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

by Lelieveld, Stefan H., Spielmann, Malte, Mundlos, Stefan, Veltman, Joris A., Gilissen, Christian
Published 2015

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

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

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

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

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

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

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

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

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

by Krawitz, Peter M, Schiska, Daniela, Krüger, Ulrike, Appelt, Sandra, Heinrich, Verena, Parkhomchuk, Dmitri, Timmermann, Bernd, Millan, Jose M, Robinson, Peter N, Mundlos, Stefan, Hecht, Jochen, Gross, Manfred
Published 2014

Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

by Tayebi, Naeimeh, Jamsheer, Aleksander, Flöttmann, Ricarda, Sowinska-Seidler, Anna, Doelken, Sandra C, Oehl-Jaschkowitz, Barbara, Hülsemann, Wiebke, Habenicht, Rolf, Klopocki, Eva, Mundlos, Stefan, Spielmann, Malte
Published 2014

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

by Kolanczyk, Mateusz, Mautner, Victor, Kossler, Nadine, Nguyen, Rosa, Kühnisch, Jirko, Zemojtel, Tomasz, Jamsheer, Aleksander, Wegener, Eike, Thurisch, Boris, Tinschert, Sigrid, Holtkamp, Nikola, Park, Su-Jin, Birch, Patricia, Kendler, David, Harder, Anja, Mundlos, Stefan, Kluwe, Lan
Published 2011

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

by Warman, Matthew L, Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L, Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Published 2011

Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep

by Hecht, Jochen, Kuhl, Heiner, Haas, Stefan A, Bauer, Sebastian, Poustka, Albert J, Lienau, Jasmin, Schell, Hanna, Stiege, Asita C, Seitz, Volkhard, Reinhardt, Richard, Duda, Georg N, Mundlos, Stefan, Robinson, Peter N
Published 2006

A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2

by Degenkolbe, Elisa, König, Jana, Zimmer, Julia, Walther, Maria, Reißner, Carsten, Nickel, Joachim, Plöger, Frank, Raspopovic, Jelena, Sharpe, James, Dathe, Katarina, Hecht, Jacqueline T., Mundlos, Stefan, Doelken, Sandra C., Seemann, Petra
Published 2013

Double NF1 Inactivation Affects Adrenocortical Function in NF1Prx1 Mice and a Human Patient

by Kobus, Karolina, Hartl, Daniela, Ott, Claus Eric, Osswald, Monika, Huebner, Angela, von der Hagen, Maja, Emmerich, Denise, Kühnisch, Jirko, Morreau, Hans, Hes, Frederik J., Mautner, Victor F., Harder, Anja, Tinschert, Sigrid, Mundlos, Stefan, Kolanczyk, Mateusz
Published 2015

Multiscale, Converging Defects of Macro-Porosity, Microstructure and Matrix Mineralization Impact Long Bone Fragility in NF1

by Kühnisch, Jirko, Seto, Jong, Lange, Claudia, Schrof, Susanne, Stumpp, Sabine, Kobus, Karolina, Grohmann, Julia, Kossler, Nadine, Varga, Peter, Osswald, Monika, Emmerich, Denise, Tinschert, Sigrid, Thielemann, Falk, Duda, Georg, Seifert, Wenke, el Khassawna, Thaqif, Stevenson, David A., Elefteriou, Florent, Kornak, Uwe, Raum, Kay, Fratzl, Peter, Mundlos, Stefan, Kolanczyk, Mateusz
Published 2014

Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome

by Kotlarz, Daniel, Ziętara, Natalia, Uzel, Gulbu, Weidemann, Thomas, Braun, Christian J., Diestelhorst, Jana, Krawitz, Peter M., Robinson, Peter N., Hecht, Jochen, Puchałka, Jacek, Gertz, E. Michael, Schäffer, Alejandro A., Lawrence, Monica G., Kardava, Lela, Pfeifer, Dietmar, Baumann, Ulrich, Pfister, Eva-Doreen, Hanson, Eric P., Schambach, Axel, Jacobs, Roland, Kreipe, Hans, Moir, Susan, Milner, Joshua D., Schwille, Petra, Mundlos, Stefan, Klein, Christoph
Published 2013

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

by Knaus, Alexej, Awaya, Tomonari, Helbig, Ingo, Afawi, Zaid, Pendziwiat, Manuela, Abu‐Rachma, Jubran, Thompson, Miles D., Cole, David E., Skinner, Steve, Annese, Fran, Canham, Natalie, Schweiger, Michal R., Robinson, Peter N., Mundlos, Stefan, Kinoshita, Taroh, Munnich, Arnold, Murakami, Yoshiko, Horn, Denise, Krawitz, Peter M.
Published 2016

Deletions of chromosomal regulatory boundaries are associated with congenital disease

by Ibn-Salem, Jonas, Köhler, Sebastian, Love, Michael I, Chung, Ho-Ryun, Huang, Ni, Hurles, Matthew E, Haendel, Melissa, Washington, Nicole L, Smedley, Damian, Mungall, Christopher J, Lewis, Suzanna E, Ott, Claus-Eric, Bauer, Sebastian, Schofield, Paul N, Mundlos, Stefan, Spielmann, Malte, Robinson, Peter N
Published 2014