Stefan Mundlos - Publications

Affiliations: 
RG development and disease Max Planck Institute for Molecular Genetics, Berlin, Berlin, Germany 

279 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Sczakiel HL, Hülsemann W, Holtgrewe M, Abad-Perez AT, Elsner J, Schwartzmann S, Horn D, Spielmann M, Mundlos S, Mensah MA. GLI3 variants causing isolated polysyndactyly are not restricted to the protein's C-terminal third. Clinical Genetics. PMID 34482537 DOI: 10.1111/cge.14059  1
2021 Melo US, Piard J, Fischer-Zirnsak B, Klever MK, Schöpflin R, Mensah MA, Holtgrewe M, Arbez-Gindre F, Martin A, Guigue V, Gaillard D, Landais E, Roze V, Kremer V, Ramanah R, ... ... Mundlos S, et al. Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus. Human Genetics. PMID 34436670 DOI: 10.1007/s00439-021-02344-6  1
2021 Socha M, Sowińska-Seidler A, Melo US, Kragesteen BK, Franke M, Heinrich V, Schöpflin R, Nagel I, Gruchy N, Mundlos S, Sreenivasan VKA, López C, Vingron M, Bukowska-Olech E, Spielmann M, et al. Position effects at the FGF8 locus are associated with femoral hypoplasia. American Journal of Human Genetics. PMID 34433009 DOI: 10.1016/j.ajhg.2021.08.001  1
2021 Vogt G, Verheyen S, Schwartzmann S, Ehmke N, Potratz C, Schwerin-Nagel A, Plecko B, Holtgrewe M, Seelow D, Blatterer J, Speicher MR, Kornak U, Horn D, Mundlos S, Fischer-Zirnsak B, et al. Biallelic truncating variants in cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive. Journal of Medical Genetics. PMID 34379057 DOI: 10.1136/jmedgenet-2021-107843  1
2021 Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, ... ... Mundlos S, et al. Genome sequencing in families with congenital limb malformations. Human Genetics. PMID 34159400 DOI: 10.1007/s00439-021-02295-y  1
2021 Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, ... ... Mundlos S, et al. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. American Journal of Human Genetics. 108: 857-873. PMID 33961779 DOI: 10.1016/j.ajhg.2021.04.001  0.01
2021 Butscheidt S, Tsourdi E, Rolvien T, Delsmann A, Stürznickel J, Barvencik F, Jakob F, Hofbauer LC, Mundlos S, Kornak U, Seefried L, Oheim R. Relevant genetic variants are common in women with pregnancy and lactation-associated osteoporosis (PLO) and predispose to more severe clinical manifestations. Bone. 115911. PMID 33716164 DOI: 10.1016/j.bone.2021.115911  1
2021 Allou L, Balzano S, Magg A, Quinodoz M, Royer-Bertrand B, Schöpflin R, Chan WL, Speck-Martins CE, Carvalho DR, Farage L, Lourenço CM, Albuquerque R, Rajagopal S, Nampoothiri S, Campos-Xavier B, ... ... Mundlos S, et al. Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature. PMID 33568816 DOI: 10.1038/s41586-021-03208-9  1
2021 Palmer EE, Sachdev R, Macintosh R, Genetic Counselling GD, Melo US, Mundlos S, Righetti S, Kandula T, Minoche AE, Puttick C, Gayevskiy V, Hesson L, Idrisoglu S, Shoubridge C, Thai MHN, et al. Diagnostic Yield of Whole Genome Sequencing After Non-diagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies. Neurology. PMID 33568551 DOI: 10.1212/WNL.0000000000011655  0.01
2021 Rodríguez de Los Santos M, Rivalan M, David FS, Stumpf A, Pitsch J, Tsortouktzidis D, Velasquez LM, Voigt A, Schilling K, Mattei D, Long M, Vogt G, Knaus A, Fischer-Zirnsak B, Wittler L, ... ... Mundlos S, et al. A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions. Proceedings of the National Academy of Sciences of the United States of America. 118. PMID 33402532 DOI: 10.1073/pnas.2014481118  1
2020 Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, et al. Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. Journal of Inherited Metabolic Disease. PMID 33320377 DOI: 10.1002/jimd.12341  1
2020 Helmsauer K, Valieva ME, Ali S, Chamorro González R, Schöpflin R, Röefzaad C, Bei Y, Dorado Garcia H, Rodriguez-Fos E, Puiggròs M, Kasack K, Haase K, Keskeny C, Chen CY, Kuschel LP, ... ... Mundlos S, et al. Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications. 11: 5823. PMID 33199677 DOI: 10.1038/s41467-020-19452-y  1
2020 Stürznickel J, Rolvien T, Delsmann A, Butscheidt S, Barvencik F, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R. Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early-onset osteoporosis (EOOP). Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 33118644 DOI: 10.1002/jbmr.4197  1
2020 Pantel JT, Hajjir N, Danyel M, Elsner J, Abad-Perez AT, Hansen P, Mundlos S, Spielmann M, Horn D, Ott CE, Mensah MA. Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research. 22: e19263. PMID 33090109 DOI: 10.2196/19263  1
2020 M Real F, Haas SA, Franchini P, Xiong P, Simakov O, Kuhl H, Schöpflin R, Heller D, Moeinzadeh MH, Heinrich V, Krannich T, Bressin A, Hartmann MF, Wudy SA, Dechmann DKN, ... ... Mundlos S, et al. The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science (New York, N.Y.). 370: 208-214. PMID 33033216 DOI: 10.1126/science.aaz2582  1
2020 de Bruijn SE, Fiorentino A, Ottaviani D, Fanucchi S, Melo US, Corral-Serrano JC, Mulders T, Georgiou M, Rivolta C, Pontikos N, Arno G, Roberts L, Greenberg J, Albert S, Gilissen C, ... ... Mundlos S, et al. Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics. PMID 33022222 DOI: 10.1016/j.ajhg.2020.09.002  1
2020 Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. American Journal of Medical Genetics. Part A. PMID 32592542 DOI: 10.1002/Ajmg.A.61735  1
2020 Melo US, Schöpflin R, Acuna-Hidalgo R, Mensah MA, Fischer-Zirnsak B, Holtgrewe M, Klever MK, Türkmen S, Heinrich V, Pluym ID, Matoso E, Bernardo de Sousa S, Louro P, Hülsemann W, Cohen M, ... ... Mundlos S, et al. Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. American Journal of Human Genetics. PMID 32470376 DOI: 10.1016/J.Ajhg.2020.04.016  1
2020 Basu S, Mackowiak SD, Niskanen H, Knezevic D, Asimi V, Grosswendt S, Geertsema H, Ali S, Jerković I, Ewers H, Mundlos S, Meissner A, Ibrahim DM, Hnisz D. Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell. PMID 32386547 DOI: 10.1016/J.Cell.2020.04.018  1
2020 Holtgrewe M, Stolpe O, Nieminen M, Mundlos S, Knaus A, Kornak U, Seelow D, Segebrecht L, Spielmann M, Fischer-Zirnsak B, Boschann F, Scholl U, Ehmke N, Beule D. VarFish: comprehensive DNA variant analysis for diagnostics and research. Nucleic Acids Research. PMID 32338743 DOI: 10.1093/Nar/Gkaa241  1
2020 Ibrahim DM, Mundlos S. The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development. 61: 1-8. PMID 32199341 DOI: 10.1016/J.Gde.2020.02.015  1
2020 Ibrahim DM, Mundlos S. Three-dimensional chromatin in disease: What holds us together and what drives us apart? Current Opinion in Cell Biology. 64: 1-9. PMID 32036200 DOI: 10.1016/J.Ceb.2020.01.003  1
2020 Rolvien T, Yorgan TA, Kornak U, Hermans-Borgmeyer I, Mundlos S, Schmidt T, Niemeier A, Schinke T, Amling M, Oheim R. Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis. Osteoarthritis and Cartilage. PMID 31958497 DOI: 10.1016/J.Joca.2019.12.011  1
2019 Ruaud L, Flöttman R, Spielmann M, Escande F, Van Maldergem L, Mundlos S, Piard J. Split hand/foot malformation associated with 20p12.1 deletion: A case report. European Journal of Medical Genetics. 103805. PMID 31698100 DOI: 10.1016/J.Ejmg.2019.103805  1
2019 Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML. Nosology and classification of genetic skeletal disorders: 2019 revision. American Journal of Medical Genetics. Part A. PMID 31633310 DOI: 10.1002/Ajmg.A.61366  1
2019 Feng C, Chan WCW, Lam Y, Wang X, Chen P, Niu B, Ng VCW, Yeo JC, Stricker S, Cheah KSE, Koch M, Mundlos S, Ng HH, Chan D. Lgr5 and Col22a1 Mark Progenitor Cells in the Lineage toward Juvenile Articular Chondrocytes. Stem Cell Reports. PMID 31522976 DOI: 10.1016/J.Stemcr.2019.08.006  1
2019 Robson MI, Mundlos S. Jumping retroviruses nudge TADs apart. Nature Genetics. PMID 31427790 DOI: 10.1038/S41588-019-0491-Y  1
2019 Despang A, Schöpflin R, Franke M, Ali S, Jerković I, Paliou C, Chan WL, Timmermann B, Wittler L, Vingron M, Mundlos S, Ibrahim DM. Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics. PMID 31358994 DOI: 10.1038/S41588-019-0466-Z  1
2019 Danyel M, Cheng Z, Jung C, Boschann F, Pantel JT, Hajjir N, Flöttmann R, Schulz S, Demuth I, Sheridan E, Mundlos S, Horn D, Mensah MA. Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. European Journal of Human Genetics : Ejhg. PMID 31320746 DOI: 10.1038/S41431-019-0469-3  1
2019 Robson MI, Ringel AR, Mundlos S. Regulatory Landscaping: How Enhancer-Promoter Communication Is Sculpted in 3D. Molecular Cell. 74: 1110-1122. PMID 31226276 DOI: 10.1016/J.Molcel.2019.05.032  1
2019 Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, Bentzen HB, Biskup S, Borisov O, Braaten O, Ciaccio C, Coutelier M, Cremer K, Danyel M, ... ... Mundlos S, et al. PEDIA: prioritization of exome data by image analysis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31164752 DOI: 10.1038/S41436-019-0566-2  1
2019 Paliou C, Guckelberger P, Schöpflin R, Heinrich V, Esposito A, Chiariello AM, Bianco S, Annunziatella C, Helmuth J, Haas S, Jerković I, Brieske N, Wittler L, Timmermann B, Nicodemi M, ... ... Mundlos S, et al. Preformed chromatin topology assists transcriptional robustness of during limb development. Proceedings of the National Academy of Sciences of the United States of America. PMID 31147463 DOI: 10.1073/Pnas.1900672116  1
2019 Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, et al. SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy. Journal of Human Genetics. PMID 31015584 DOI: 10.1038/S10038-019-0602-8  1
2019 Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, ... ... Mundlos S, et al. Pathogenic Variants in GPC4 Cause Keipert Syndrome. American Journal of Human Genetics. PMID 30982611 DOI: 10.1016/J.Ajhg.2019.02.026  0.01
2019 Cao J, Spielmann M, Qiu X, Huang X, Ibrahim DM, Hill AJ, Zhang F, Mundlos S, Christiansen L, Steemers FJ, Trapnell C, Shendure J. The single-cell transcriptional landscape of mammalian organogenesis. Nature. PMID 30787437 DOI: 10.1038/S41586-019-0969-X  1
2019 Kraft K, Magg A, Heinrich V, Riemenschneider C, Schöpflin R, Markowski J, Ibrahim DM, Acuna-Hidalgo R, Despang A, Andrey G, Wittler L, Timmermann B, Vingron M, Mundlos S. Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology. PMID 30742094 DOI: 10.1038/S41556-019-0273-X  1
2019 Kragesteen BK, Brancati F, Digilio MC, Mundlos S, Spielmann M. promoter deletion causes endoactivation and Liebenberg syndrome. Journal of Medical Genetics. PMID 30711920 DOI: 10.1136/Jmedgenet-2018-105793  1
2019 Hansen P, Ali S, Blau H, Danis D, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, Robinson PN. GOPHER: Generator Of Probes for capture Hi-C Experiments at high Resolution. Bmc Genomics. 20: 40. PMID 30642251 DOI: 10.1186/S12864-018-5376-4  1
2018 Zenzes M, Bortel EL, Fratzl P, Mundlos S, Schuetz M, Schmidt H, Duda GN, Witte F, Zaslansky P. Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study. Acta Biomaterialia. PMID 30605771 DOI: 10.1016/J.Actbio.2018.12.050  1
2018 Sima J, Chakraborty A, Dileep V, Michalski M, Klein KN, Holcomb NP, Turner JL, Paulsen MT, Rivera-Mulia JC, Trevilla-Garcia C, Bartlett DA, Zhao PA, Washburn BK, Nora EP, Kraft K, ... Mundlos S, et al. Identifying cis Elements for Spatiotemporal Control of Mammalian DNA Replication. Cell. PMID 30595451 DOI: 10.1016/J.Cell.2018.11.036  1
2018 Hernandez-Miranda LR, Ibrahim DM, Ruffault PL, Larrosa M, Balueva K, Müller T, Weerd W, Stolte-Dijkstra I, Hostra RMW, Brunet JF, Fortin G, Mundlos S, Birchmeier C. Mutation in precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America. PMID 30487221 DOI: 10.1073/Pnas.1813520115  1
2018 Luther J, Yorgan TA, Rolvien T, Ulsamer L, Koehne T, Liao N, Keller D, Vollersen N, Teufel S, Neven M, Peters S, Schweizer M, Trumpp A, Rosigkeit S, Bockamp E, ... Mundlos S, et al. Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine. 10. PMID 30404864 DOI: 10.1126/Scitranslmed.Aau7137  1
2018 Holtgrewe M, Knaus A, Hildebrand G, Pantel JT, Santos MRL, Neveling K, Goldmann J, Schubach M, Jäger M, Coutelier M, Mundlos S, Beule D, Sperling K, Krawitz PM. Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports. 8: 14611. PMID 30279461 DOI: 10.1038/S41598-018-33066-X  1
2018 Kragesteen BK, Spielmann M, Paliou C, Heinrich V, Schöpflin R, Esposito A, Annunziatella C, Bianco S, Chiariello AM, Jerković I, Harabula I, Guckelberger P, Pechstein M, Wittler L, Chan WL, ... ... Mundlos S, et al. Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis. Nature Genetics. PMID 30262816 DOI: 10.1038/S41588-018-0221-X  1
2018 Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F. A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics. Part A. PMID 30194892 DOI: 10.1002/Ajmg.A.40379  1
2018 Rolvien T, Stürznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R. Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International. PMID 29946973 DOI: 10.1007/S00223-018-0447-8  1
2018 Geissler S, Textor M, Stumpp S, Seitz S, Lekaj A, Brunk S, Klaassen S, Schinke T, Klein C, Mundlos S, Kornak U, Kühnisch J. Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation. Plos One. 13: e0198510. PMID 29879182 DOI: 10.1371/Journal.Pone.0198510  1
2018 Spielmann M, Lupiáñez DG, Mundlos S. Structural variation in the 3D genome. Nature Reviews. Genetics. PMID 29692413 DOI: 10.1038/S41576-018-0007-0  1
2018 Bianco S, Lupiáñez DG, Chiariello AM, Annunziatella C, Kraft K, Schöpflin R, Wittler L, Andrey G, Vingron M, Pombo A, Mundlos S, Nicodemi M. Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics. PMID 29662163 DOI: 10.1038/S41588-018-0098-8  1
2018 Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE. Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone. PMID 29653293 DOI: 10.1016/J.Bone.2018.04.006  1
2018 Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM. Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease. PMID 29623569 DOI: 10.1007/S10545-018-0174-3  1
2018 Chan WL, Steiner M, Witkos T, Egerer J, Busse B, Mizumoto S, Pestka JM, Zhang H, Hausser I, Khayal LA, Ott CE, Kolanczyk M, Willie B, Schinke T, Paganini C, ... ... Mundlos S, et al. Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica. Plos Genetics. 14: e1007242. PMID 29561836 DOI: 10.1371/Journal.Pgen.1007242  1
2018 Kragesteen BK, Duboule D, Mundlos S, Spielmann M. Response to Peron et al. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29493576 DOI: 10.1038/Gim.2018.20  1
2018 Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, et al. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics. Part A. 176: 668-675. PMID 29341480 DOI: 10.1002/Ajmg.A.38604  1
2018 Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, ... ... Mundlos S, et al. Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine. 10: 3. PMID 29310717 DOI: 10.1186/S13073-017-0510-5  1
2017 Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, ... ... Mundlos S, et al. Noncoding copy-number variations are associated with congenital limb malformation. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29236091 DOI: 10.1038/Gim.2017.154  1
2017 Türkmen S, Spielmann M, Güneş N, Knaus A, Flöttmann R, Mundlos S, Tüysüz B. A Novel de novoMutation in a Patient with Autosomal Dominant Omodysplasia. Molecular Syndromology. 8: 318-324. PMID 29230162 DOI: 10.1159/000479721  1
2017 Schreiber I, Dörpholz G, Ott CE, Kragesteen B, Schanze N, Lee CT, Köhrle J, Mundlos S, Ruschke K, Knaus P. BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation. Scientific Reports. 7: 17192. PMID 29222456 DOI: 10.1038/S41598-017-17595-5  1
2017 Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, ... ... Mundlos S, et al. De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. American Journal of Human Genetics. 101: 833-843. PMID 29100093 DOI: 10.1016/J.Ajhg.2017.09.016  1
2017 Andrey G, Mundlos S. The three-dimensional genome: regulating gene expression during pluripotency and development. Development (Cambridge, England). 144: 3646-3658. PMID 29042476 DOI: 10.1242/Dev.148304  1
2017 Rolvien T, Kornak U, Stürznickel J, Schinke T, Amling M, Mundlos S, Oheim R. A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. PMID 28916840 DOI: 10.1007/S00198-017-4224-8  1
2017 Will AJ, Cova G, Osterwalder M, Chan WL, Wittler L, Brieske N, Heinrich V, de Villartay JP, Vingron M, Klopocki E, Visel A, Lupiáñez DG, Mundlos S. Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics. PMID 28846100 DOI: 10.1038/Ng.3939  1
2017 Spielmann M, Hernandez-Miranda LR, Ceccherini I, Weese-Mayer DE, Kragesteen BK, Harabula I, Krawitz P, Birchmeier C, Leonard N, Mundlos S. Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. Journal of Medical Genetics. PMID 28779001 DOI: 10.1136/Jmedgenet-2017-104765  1
2017 Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R. Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. European Journal of Medical Genetics. PMID 28559208 DOI: 10.1016/J.Ejmg.2017.05.004  1
2017 Jerković I, Ibrahim DM, Andrey G, Haas S, Hansen P, Janetzki C, González Navarrete I, Robinson PN, Hecht J, Mundlos S. Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. Plos Genetics. 13: e1006567. PMID 28103242 DOI: 10.1371/Journal.Pgen.1006567  1
2017 Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B. A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa. Journal of Human Genetics. 62: 325-328. PMID 27604556 DOI: 10.1038/Jhg.2016.111  1
2016 Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel T. L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes. Nucleic Acids Research. PMID 27924012 DOI: 10.1093/Nar/Gkw925  1
2016 Andrey G, Schöpflin R, Jerković I, Heinrich V, Ibrahim DM, Paliou C, Hochradel M, Timmermann B, Haas S, Vingron M, Mundlos S. Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research. PMID 27923844 DOI: 10.1101/Gr.213066.116  1
2016 Franke M, Ibrahim DM, Andrey G, Schwarzer W, Heinrich V, Schöpflin R, Kraft K, Kempfer R, Jerković I, Chan WL, Spielmann M, Timmermann B, Wittler L, Kurth I, Cambiaso P, ... ... Mundlos S, et al. Formation of new chromatin domains determines pathogenicity of genomic duplications. Nature. PMID 27706140 DOI: 10.1038/Nature19800  1
2016 Heinrich V, Kamphans T, Mundlos S, Robinson PN, Krawitz PM. A likelihood ratio based method to predict exact pedigrees for complex families from next-generation sequencing data. Bioinformatics (Oxford, England). PMID 27565584 DOI: 10.1093/Bioinformatics/Btw550  1
2016 Seifert W, Posor Y, Schu P, Stenbeck G, Mundlos S, Klaassen S, Nürnberg P, Haucke V, Kornak U, Kühnisch J. The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface. Human Molecular Genetics. 25: 3836-3848. PMID 27466194 DOI: 10.1093/Hmg/Ddw230  1
2016 Spielmann M, Mundlos S. Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics. 25: R157-R165. PMID 27354350 DOI: 10.1093/Hmg/Ddw205  1
2016 Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A. Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists. 67: 78-83. PMID 27179278 DOI: 10.5114/PJP.2016.59480  1
2016 Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, et al. Rare Non-Coding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. Human Mutation. PMID 27120253 DOI: 10.1002/Humu.23006  1
2016 Lupiáñez DG, Spielmann M, Mundlos S. Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics : Tig. 32: 225-237. PMID 26862051 DOI: 10.1016/J.Tig.2016.01.003  1
2016 Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics. Part A. 170: 1202-7. PMID 26822876 DOI: 10.1002/Ajmg.A.37560  1
2016 Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing. American Journal of Medical Genetics. Part A. 170: 1080-5. PMID 26799614 DOI: 10.1002/Ajmg.A.37547  1
2016 Spielmann M, Kakar N, Tayebi N, Leettola C, Nürnberg G, Sowada N, Lupiáñez DG, Harabula I, Flöttmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmüller J, Thiele H, ... ... Mundlos S, et al. Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. Genome Research. PMID 26755636 DOI: 10.1101/Gr.199430.115  1
2016 Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European Journal of Human Genetics : Ejhg. 24: 1132-6. PMID 26733284 DOI: 10.1038/Ejhg.2015.266  1
2016 Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics. Part A. 170: 615-21. PMID 26581570 DOI: 10.1002/Ajmg.A.37464  1
2016 Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia European Journal of Human Genetics. DOI: 10.1038/ejhg.2015.266  1
2016 Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37560  1
2016 Mackenroth L, Fischer-Zirnsak B, Egerer J, Hecht J, Kallinich T, Stenzel W, Spors B, von Moers A, Mundlos S, Kornak U, Gerhold K, Horn D. An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37547  1
2015 Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, et al. DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. Human Mutation. 36: 1112. PMID 26457590 DOI: 10.1002/humu.22830  1
2015 Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics. Part A. PMID 26394607 DOI: 10.1002/Ajmg.A.37365  1
2015 Fischer-Zirnsak B, Escande-Beillard N, Ganesh J, Tan YX, Al Bughaili M, Lin AE, Sahai I, Bahena P, Reichert SL, Loh A, Wright GD, Liu J, Rahikkala E, Pivnick EK, Choudhri AF, ... ... Mundlos S, et al. Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa. American Journal of Human Genetics. 97: 483-92. PMID 26320891 DOI: 10.1016/J.Ajhg.2015.08.001  1
2015 Zhu N, Heinrich V, Dickhaus T, Hecht J, Robinson PN, Mundlos S, Kamphans T, Krawitz PM. Strategies to improve the performance of rare variant association studies by optimizing the selection of controls. Bioinformatics (Oxford, England). 31: 3577-83. PMID 26249812 DOI: 10.1093/Bioinformatics/Btv457  1
2015 Bortel EL, Duda GN, Mundlos S, Willie BM, Fratzl P, Zaslansky P. High resolution 3D laboratory x-ray tomography data of femora from young, 1-14 day old C57BL/6 mice. Data in Brief. 4: 32-3. PMID 26217757 DOI: 10.1016/J.Dib.2015.04.001  1
2015 Flöttmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D, Spielmann M. FGFR2 mutation in a patient without typical features of Pfeiffer syndrome - The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics. PMID 26096994 DOI: 10.1016/J.Ejmg.2015.05.007  1
2015 Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, et al. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics. 52: 476-83. PMID 26032025 DOI: 10.1136/Jmedgenet-2015-103108  1
2015 Egerer J, Emmerich D, Fischer-Zirnsak B, Chan WL, Meierhofer D, Tuysuz B, Marschner K, Sauer S, Barr FA, Mundlos S, Kornak U. GORAB Missense Mutations Disrupt RAB6 and ARF5 Binding and Golgi Targeting. The Journal of Investigative Dermatology. 135: 2368-2376. PMID 26000619 DOI: 10.1038/Jid.2015.192  1
2015 Stange K, Ott CE, Schmidt-von Kegler M, Gillesen-Kaesbach G, Mundlos S, Dathe K, Seemann P. Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations? Journal of Human Genetics. 60: 419-25. PMID 25994865 DOI: 10.1038/Jhg.2015.48  1
2015 Lelieveld SH, Spielmann M, Mundlos S, Veltman JA, Gilissen C. Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutation. 36: 815-22. PMID 25973577 DOI: 10.1002/Humu.22813  1
2015 Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, ... ... Mundlos S, et al. PDE3A mutations cause autosomal dominant hypertension with brachydactyly. Nature Genetics. 47: 647-53. PMID 25961942 DOI: 10.1038/Ng.3302  1
2015 Lupiáñez DG, Kraft K, Heinrich V, Krawitz P, Brancati F, Klopocki E, Horn D, Kayserili H, Opitz JM, Laxova R, Santos-Simarro F, Gilbert-Dussardier B, Wittler L, Borschiwer M, Haas SA, ... ... Mundlos S, et al. Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions. Cell. 161: 1012-25. PMID 25959774 DOI: 10.1016/J.Cell.2015.04.004  1
2015 Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European Journal of Human Genetics : Ejhg. 23: 720. PMID 25880334 DOI: 10.1038/ejhg.2014.278  1
2015 Bortel EL, Duda GN, Mundlos S, Willie BM, Fratzl P, Zaslansky P. Long bone maturation is driven by pore closing: A quantitative tomography investigation of structural formation in young C57BL/6 mice. Acta Biomaterialia. 22: 92-102. PMID 25829108 DOI: 10.1016/J.Actbio.2015.03.027  1
2015 Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, et al. DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. Human Mutation. 36: 593-8. PMID 25824905 DOI: 10.1002/Humu.22795  1
2015 Kobus K, Hartl D, Ott CE, Osswald M, Huebner A, von der Hagen M, Emmerich D, Kühnisch J, Morreau H, Hes FJ, Mautner VF, Harder A, Tinschert S, Mundlos S, Kolanczyk M. Double NF1 inactivation affects adrenocortical function in NF1Prx1 mice and a human patient. Plos One. 10: e0119030. PMID 25775093 DOI: 10.1371/Journal.Pone.0119030  1
2015 Kraft K, Geuer S, Will AJ, Chan WL, Paliou C, Borschiwer M, Harabula I, Wittler L, Franke M, Ibrahim DM, Kragesteen BK, Spielmann M, Mundlos S, Lupiáñez DG, Andrey G. Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports. PMID 25660031 DOI: 10.1016/J.Celrep.2015.01.016  1
2015 Degenkolbe E, Schwarz C, Ott CE, König J, Schmidt-Bleek K, Ellinghaus A, Schmidt T, Lienau J, Plöger F, Mundlos S, Duda GN, Willie BM, Seemann P. Improved bone defect healing by a superagonistic GDF5 variant derived from a patient with multiple synostoses syndrome. Bone. 73: 111-9. PMID 25543012 DOI: 10.1016/J.Bone.2014.12.017  1
2015 Grünhagen J, Bhushan R, Degenkolbe E, Jäger M, Knaus P, Mundlos S, Robinson PN, Ott CE. MiR-497∼195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. 30: 796-808. PMID 25407900 DOI: 10.1002/Jbmr.2412  1
2015 Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, ... ... Mundlos S, et al. Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European Journal of Human Genetics : Ejhg. 23: 870-3. PMID 25293717 DOI: 10.1038/Ejhg.2014.210  1
2015 Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European Journal of Human Genetics : Ejhg. 23: 633-8. PMID 24916641 DOI: 10.1038/Ejhg.2014.109  1
2014 Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, ... ... Mundlos S, et al. Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. American Journal of Human Genetics. 95: 763-70. PMID 25480037 DOI: 10.1016/J.Ajhg.2014.11.004  1
2014 Krawitz PM, Schiska D, Krüger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M. Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Molecular Genetics & Genomic Medicine. 2: 393-401. PMID 25333064 DOI: 10.1002/Mgg3.92  1
2014 Ehmke N, Parvaneh N, Krawitz P, Ashrafi MR, Karimi P, Mehdizadeh M, Krüger U, Hecht J, Mundlos S, Robinson PN. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American Journal of Medical Genetics. Part A. 164: 3170-5. PMID 25331754 DOI: 10.1002/Ajmg.A.36772  1
2014 Ibn-Salem J, Köhler S, Love MI, Chung HR, Huang N, Hurles ME, Haendel M, Washington NL, Smedley D, Mungall CJ, Lewis SE, Ott CE, Bauer S, Schofield PN, Mundlos S, et al. Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology. 15: 423. PMID 25315429 DOI: 10.1186/S13059-014-0423-1  1
2014 Tayebi N, Jamsheer A, Flöttmann R, Sowinska-Seidler A, Doelken SC, Oehl-Jaschkowitz B, Hülsemann W, Habenicht R, Klopocki E, Mundlos S, Spielmann M. 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. Orphanet Journal of Rare Diseases. 9: 108. PMID 25231166 DOI: 10.1186/S13023-014-0108-6  1
2014 Zemojtel T, Köhler S, Mackenroth L, Jäger M, Hecht J, Krawitz P, Graul-Neumann L, Doelken S, Ehmke N, Spielmann M, Oien NC, Schweiger MR, Krüger U, Frommer G, Fischer B, ... ... Mundlos S, et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Medicine. 6: 252ra123. PMID 25186178 DOI: 10.1126/Scitranslmed.3009262  1
2014 Stange K, Thieme T, Hertel K, Kuhfahl S, Janecke AR, Piza-Katzer H, Penttinen M, Hietala M, Dathe K, Mundlos S, Schwarz E, Seemann P. Molecular analysis of two novel missense mutations in the GDF5 proregion that reduce protein activity and are associated with brachydactyly type C. Journal of Molecular Biology. 426: 3221-31. PMID 25092592 DOI: 10.1016/J.Jmb.2014.07.029  1
2014 Kühnisch J, Seto J, Lange C, Stumpp S, Kobus K, Grohmann J, Elefteriou F, Fratzl P, Mundlos S, Kolanczyk M. Neurofibromin inactivation impairs osteocyte development in Nf1Prx1 and Nf1Col1 mouse models. Bone. 66: 155-62. PMID 24947449 DOI: 10.1016/J.Bone.2014.06.012  1
2014 Fischer B, Callewaert B, Schröter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Molecular Genetics and Metabolism. 112: 310-6. PMID 24913064 DOI: 10.1016/J.Ymgme.2014.05.003  1
2014 Jamsheer A, Smigiel R, Jakubiak A, Zemojtel T, Socha M, Robinson PN, Mundlos S. Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5. Birth Defects Research. Part a, Clinical and Molecular Teratology. 100: 314-8. PMID 24706454 DOI: 10.1002/Bdra.23239  1
2014 Girisha KM, Bidchol AM, Kamath PS, Shah KH, Mortier GR, Mundlos S, Shah H. A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia American Journal of Medical Genetics, Part A. 164: 898-906. PMID 24478176 DOI: 10.1002/Ajmg.A.36367  1
2014 Kühnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Emmerich D, Tinschert S, Thielemann F, Duda G, Seifert W, ... ... Mundlos S, et al. Multiscale, converging defects of macro-porosity, microstructure and matrix mineralization impact long bone fragility in NF1. Plos One. 9: e86115. PMID 24465906 DOI: 10.1371/Journal.Pone.0086115  1
2014 Kornak U, Mademan I, Schinke M, Voigt M, Krawitz P, Hecht J, Barvencik F, Schinke T, Gießelmann S, Beil FT, Pou-Serradell A, Vílchez JJ, Beetz C, Deconinck T, Timmerman V, ... ... Mundlos S, et al. Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3 Brain. 137: 683-692. PMID 24459106 DOI: 10.1093/Brain/Awt357  1
2014 Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA, et al. Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. American Journal of Human Genetics. 94: 278-87. PMID 24439110 DOI: 10.1016/J.Ajhg.2013.12.012  1
2014 Kuss P, Kraft K, Stumm J, Ibrahim D, Vallecillo-Garcia P, Mundlos S, Stricker S. Regulation of cell polarity in the cartilage growth plate and perichondrium of metacarpal elements by HOXD13 and WNT5A. Developmental Biology. 385: 83-93. PMID 24161848 DOI: 10.1016/J.Ydbio.2013.10.013  1
2014 Schnerch D, Lausch E, Becker H, Felthaus J, Pfeifer D, Mundlos S, Engelhardt M, Schwabe M, Wäsch R. Up-regulation of RUNX2 in acute myeloid leukemia in a patient with an inherent RUNX2 haploinsufficiency and cleidocranial dysplasia. Leukemia & Lymphoma. 55: 1930-2. PMID 24138303 DOI: 10.3109/10428194.2013.855310  1
2014 Graul-Neumann LM, Deichsel A, Wille U, Kakar N, Koll R, Bassir C, Ahmad J, Cormier-Daire V, Mundlos S, Kubisch C, Borck G, Klopocki E, Mueller TD, Doelken SC, Seemann P. Homozygous missense and nonsense mutations in BMPR1B cause acromesomelic chondrodysplasia-type Grebe. European Journal of Human Genetics : Ejhg. 22: 726-33. PMID 24129431 DOI: 10.1038/Ejhg.2013.222  1
2013 Song YQ, Karasugi T, Cheung KM, Chiba K, Ho DW, Miyake A, Kao PY, Sze KL, Yee A, Takahashi A, Kawaguchi Y, Mikami Y, Matsumoto M, Togawa D, Kanayama M, ... ... Mundlos S, et al. Lumbar disc degeneration is linked to a carbohydrate sulfotransferase 3 variant. The Journal of Clinical Investigation. 123: 4909-17. PMID 24216480 DOI: 10.1172/Jci69277  1
2013 Degenkolbe E, König J, Zimmer J, Walther M, Reißner C, Nickel J, Plöger F, Raspopovic J, Sharpe J, Dathe K, Hecht JT, Mundlos S, Doelken SC, Seemann P. A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. Plos Genetics. 9: e1003846. PMID 24098149 DOI: 10.1371/Journal.Pgen.1003846  1
2013 Dimopoulou A, Fischer B, Gardeitchik T, Schröter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, ... ... Mundlos S, et al. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Molecular Genetics and Metabolism. 110: 352-61. PMID 24035636 DOI: 10.1016/J.Ymgme.2013.08.009  1
2013 Dziubianau M, Hecht J, Kuchenbecker L, Sattler A, Stervbo U, Rödelsperger C, Nickel P, Neumann AU, Robinson PN, Mundlos S, Volk HD, Thiel A, Reinke P, Babel N. TCR repertoire analysis by next generation sequencing allows complex differential diagnosis of T cell-related pathology. American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons. 13: 2842-54. PMID 24020931 DOI: 10.1111/Ajt.12431  1
2013 Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, ... ... Mundlos S, et al. Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. Genome Research. 23: 2091-102. PMID 23995701 DOI: 10.1101/Gr.157610.113  1
2013 Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM. Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees. Plos One. 8: e70151. PMID 23940540 DOI: 10.1371/Journal.Pone.0070151  1
2013 Krawitz PM, Höchsmann B, Murakami Y, Teubner B, Krüger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H. A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. Blood. 122: 1312-5. PMID 23733340 DOI: 10.1182/Blood-2013-01-481499  1
2013 Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion. Journal of Medical Genetics. 50: 579-84. PMID 23709756 DOI: 10.1136/Jmedgenet-2013-101659  1
2013 Ott CE, Fischer B, Schröter P, Richter R, Gupta N, Verma N, Kabra M, Mundlos S, Rajab A, Neitzel H, Kornak U. Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1. Bone. 55: 292-7. PMID 23685543 DOI: 10.1016/J.Bone.2013.04.007  1
2013 Spielmann M, Mundlos S. Structural variations, the regulatory landscape of the genome and their alteration in human disease. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. 35: 533-43. PMID 23625790 DOI: 10.1002/Bies.201200178  1
2013 Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome. American Journal of Human Genetics. 92: 584-9. PMID 23561847 DOI: 10.1016/J.Ajhg.2013.03.011  1
2013 Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, Semler O, Fischer B, Yigit G, Janda CY, Becker J, Breer S, Altunoglu U, Grünhagen J, Krawitz P, Hecht J, ... ... Mundlos S, et al. Mutations in WNT1 cause different forms of bone fragility. American Journal of Human Genetics. 92: 565-74. PMID 23499309 DOI: 10.1016/J.Ajhg.2013.02.010  1
2013 Kotlarz D, Zi?tara N, Uzel G, Weidemann T, Braun CJ, Diestelhorst J, Krawitz PM, Robinson PN, Hecht J, Pucha?ka J, Gertz EM, Schäffer AA, Lawrence MG, Kardava L, Pfeifer D, ... ... Mundlos S, et al. Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. The Journal of Experimental Medicine. 210: 433-43. PMID 23440042 DOI: 10.1084/Jem.20111229  1
2013 Villavicencio-Lorini P, Klopocki E, Trimborn M, Koll R, Mundlos S, Horn D. Phenotypic variant of Brachydactyly-mental retardation syndrome in a family with an inherited interstitial 2q37.3 microdeletion including HDAC4. European Journal of Human Genetics : Ejhg. 21: 743-8. PMID 23188045 DOI: 10.1038/Ejhg.2012.240  1
2013 Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. Journal of Medical Genetics. 50: 47-53. PMID 23160277 DOI: 10.1136/Jmedgenet-2012-101219  1
2013 Arélin M, Schulze B, Müller-Myhsok B, Horn D, Diers A, Uhlenberg B, Nürnberg P, Nürnberg G, Becker C, Mundlos S, Lindner TH, Sperling K, Hoffmann K. Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects. European Journal of Human Genetics : Ejhg. 21: 367-72. PMID 23032112 DOI: 10.1038/Ejhg.2012.198  1
2013 Kuhnisch J, Seto J, Lange C, Schrof S, Stumpp S, Kobus K, Grohmann J, Kossler N, Varga P, Osswald M, Tinschert S, Seifert W, el KT, Stevenson D, Elefteriou F, ... ... Mundlos S, et al. Long bone fragility in NF1 is due to deficiency of architecture, micro-structure and matrix mineralization Bone Abstracts. DOI: 10.1530/Boneabs.1.Pp454  1
2012 Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, ... ... Mundlos S, et al. Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics. 91: 629-35. PMID 23022097 DOI: 10.1016/J.Ajhg.2012.08.014  1
2012 Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, ... ... Mundlos S, et al. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics. 131: 1761-73. PMID 22773132 DOI: 10.1007/S00439-012-1197-8  1
2012 Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grünhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S. Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. Journal of Medical Genetics. 49: 437-41. PMID 22717651 DOI: 10.1136/Jmedgenet-2012-100825  1
2012 Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. American Journal of Human Genetics. 91: 146-51. PMID 22683086 DOI: 10.1016/J.Ajhg.2012.05.004  1
2012 Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS. Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. European Journal of Human Genetics : Ejhg. 20: 754-61. PMID 22317977 DOI: 10.1038/Ejhg.2012.6  1
2012 Klopocki E, Kähler C, Foulds N, Shah H, Joseph B, Vogel H, Lüttgen S, Bald R, Besoke R, Held K, Mundlos S, Kurth I. Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. European Journal of Human Genetics : Ejhg. 20: 705-8. PMID 22258522 DOI: 10.1038/Ejhg.2011.264  1
2012 Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T. Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome. The Journal of Biological Chemistry. 287: 6318-25. PMID 22228761 DOI: 10.1074/Jbc.M111.331090  1
2012 Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, ... ... Mundlos S, et al. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Journal of Medical Genetics. 49: 119-25. PMID 22147889 DOI: 10.1136/Jmedgenet-2011-100409  1
2012 Heinrich V, Stange J, Dickhaus T, Imkeller P, Krüger U, Bauer S, Mundlos S, Robinson PN, Hecht J, Krawitz PM. The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process Nucleic Acids Research. 40: 2426-2431. PMID 22127862 DOI: 10.1093/Nar/Gkr1073  1
2012 Stricker S, Mathia S, Haupt J, Seemann P, Meier J, Mundlos S. Odd-skipped related genes regulate differentiation of embryonic limb mesenchyme and bone marrow mesenchymal stromal cells. Stem Cells and Development. 21: 623-33. PMID 21671783 DOI: 10.1089/Scd.2011.0154  1
2012 Villavicencio-Lorini P, Klopocki E, Pfeiffer L, Mundlos S, Horn D. 2q37 Deletion syndrome: Phenotypic variants of HDAC4 haploinsufficiency | Das 2q37-deletionssyndrom: Phänotypische varianten der HDAC4-haploinsuffizienz Medizinische Genetik. 24: 40-47. DOI: 10.1007/S11825-012-0318-Z  1
2011 Stricker S, Mundlos S. FGF and ROR2 receptor tyrosine kinase signaling in human skeletal development. Current Topics in Developmental Biology. 97: 179-206. PMID 22074606 DOI: 10.1016/B978-0-12-385975-4.00013-9  1
2011 Blau O, Baldus CD, Hofmann WK, Thiel G, Nolte F, Burmeister T, Türkmen S, Benlasfer O, Schümann E, Sindram A, Molkentin M, Mundlos S, Keilholz U, Thiel E, Blau IW. Mesenchymal stromal cells of myelodysplastic syndrome and acute myeloid leukemia patients have distinct genetic abnormalities compared with leukemic blasts. Blood. 118: 5583-92. PMID 21948175 DOI: 10.1182/Blood-2011-03-343467  1
2011 Rump P, Jongbloed JD, Sikkema-Raddatz B, Mundlos S, Klopocki E, van der Luijt RB. Madelung deformity in a girl with a novel and de novo mutation in the GNAS gene. American Journal of Medical Genetics. Part A. 155: 2566-70. PMID 21910239 DOI: 10.1002/Ajmg.A.34218  1
2011 Lange C, Li C, Manjubala I, Wagermaier W, Kühnisch J, Kolanczyk M, Mundlos S, Knaus P, Fratzl P. Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. Journal of Structural Biology. 176: 159-67. PMID 21855638 DOI: 10.1016/J.Jsb.2011.08.003  1
2011 Baasanjav S, Al-Gazali L, Hashiguchi T, Mizumoto S, Fischer B, Horn D, Seelow D, Ali BR, Aziz SA, Langer R, Saleh AA, Becker C, Nürnberg G, Cantagrel V, Gleeson JG, ... ... Mundlos S, et al. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. American Journal of Human Genetics. 89: 15-27. PMID 21763480 DOI: 10.1016/J.Ajhg.2011.05.021  1
2011 Klopocki E, Mundlos S. Copy-number variations, noncoding sequences, and human phenotypes. Annual Review of Genomics and Human Genetics. 12: 53-72. PMID 21756107 DOI: 10.1146/Annurev-Genom-082410-101404  1
2011 Kolanczyk M, Mautner V, Kossler N, Nguyen R, Kühnisch J, Zemojtel T, Jamsheer A, Wegener E, Thurisch B, Tinschert S, Holtkamp N, Park SJ, Birch P, Kendler D, Harder A, ... Mundlos S, et al. MIA is a potential biomarker for tumour load in neurofibromatosis type 1. Bmc Medicine. 9: 82. PMID 21726432 DOI: 10.1186/1741-7015-9-82  1
2011 Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E. Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. European Journal of Medical Genetics. 54: e441-5. PMID 21596161 DOI: 10.1016/J.Ejmg.2011.04.004  1
2011 Kossler N, Stricker S, Rödelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M. Neurofibromin (Nf1) is required for skeletal muscle development. Human Molecular Genetics. 20: 2697-709. PMID 21478499 DOI: 10.1093/Hmg/Ddr149  1
2011 Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, et al. Nosology and classification of genetic skeletal disorders: 2010 revision. American Journal of Medical Genetics. Part A. 155: 943-68. PMID 21438135 DOI: 10.1002/Ajmg.A.33909  1
2011 Jäger M, Ott CE, Grünhagen J, Hecht J, Schell H, Mundlos S, Duda GN, Robinson PN, Lienau J. Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing. Bmc Genomics. 12: 158. PMID 21435219 DOI: 10.1186/1471-2164-12-158  1
2011 Stricker S, Mundlos S. Mechanisms of digit formation: Human malformation syndromes tell the story. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 240: 990-1004. PMID 21337664 DOI: 10.1002/Dvdy.22565  1
2011 Ott CE, Grünhagen J, Jäger M, Horbelt D, Schwill S, Kallenbach K, Guo G, Manke T, Knaus P, Mundlos S, Robinson PN. MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. Plos One. 6: e16250. PMID 21305018 DOI: 10.1371/Journal.Pone.0016250  1
2011 Diez-Roux G, Banfi S, Sultan M, Geffers L, Anand S, Rozado D, Magen A, Canidio E, Pagani M, Peluso I, Lin-Marq N, Koch M, Bilio M, Cantiello I, Verde R, ... ... Mundlos S, et al. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Plos Biology. 9: e1000582. PMID 21267068 DOI: 10.1371/Journal.Pbio.1000582  1
2011 Joss S, Kini U, Fisher R, Mundlos S, Prescott K, Newbury-Ecob R, Tolmie J. The face of Ulnar Mammary syndrome? European Journal of Medical Genetics. 54: 301-5. PMID 21199695 DOI: 10.1016/J.Ejmg.2010.12.010  0.01
2011 Klopocki E, Lohan S, Brancati F, Koll R, Brehm A, Seemann P, Dathe K, Stricker S, Hecht J, Bosse K, Betz RC, Garaci FG, Dallapiccola B, Jain M, Muenke M, ... ... Mundlos S, et al. Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. American Journal of Human Genetics. 88: 70-5. PMID 21167467 DOI: 10.1016/J.Ajhg.2010.11.006  1
2011 Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R, Smeitink J, Kornak U, ... ... Mundlos S, et al. NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell. 22: 1-11. PMID 21118999 DOI: 10.1091/Mbc.E10-07-0643  1
2011 Kerschnitzki M, Wagermaier W, Roschger P, Seto J, Shahar R, Duda GN, Mundlos S, Fratzl P. The organization of the osteocyte network mirrors the extracellular matrix orientation in bone. Journal of Structural Biology. 173: 303-11. PMID 21081167 DOI: 10.1016/J.Jsb.2010.11.014  1
2010 Clayton P, Fischer B, Mann A, Mansour S, Rossier E, Veen M, Lang C, Baasanjav S, Kieslich M, Brossuleit K, Gravemann S, Schnipper N, Karbasyian M, Demuth I, Zwerger M, ... ... Mundlos S, et al. Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus (Austin, Tex.). 1: 354-66. PMID 21327084 DOI: 10.4161/Nucl.1.4.12435  1
2010 Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF. Brachydactyly type A1 with short humerus and associated skeletal features. American Journal of Medical Genetics. Part A. 152: 3016-21. PMID 21077205 DOI: 10.1002/Ajmg.A.33761  1
2010 Kantaputra PN, Mundlos S, Sripathomsawat W. A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. American Journal of Medical Genetics. Part A. 152: 2832-7. PMID 20949531 DOI: 10.1002/Ajmg.A.33673  1
2010 Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, ... ... Mundlos S, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics. 42: 827-9. PMID 20802478 DOI: 10.1038/Ng.653  1
2010 Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, et al. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. American Journal of Human Genetics. 87: 265-73. PMID 20691405 DOI: 10.1016/J.Ajhg.2010.07.003  1
2010 Witte F, Chan D, Economides AN, Mundlos S, Stricker S. Receptor tyrosine kinase-like orphan receptor 2 (ROR2) and Indian hedgehog regulate digit outgrowth mediated by the phalanx-forming region. Proceedings of the National Academy of Sciences of the United States of America. 107: 14211-6. PMID 20660756 DOI: 10.1073/Pnas.1009314107  1
2010 Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, ... ... Mundlos S, et al. Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation. 31: E1587-93. PMID 20648631 DOI: 10.1002/Humu.21298  1
2010 Kantaputra PN, Klopocki E, Hennig BP, Praphanphoj V, Le Caignec C, Isidor B, Kwee ML, Shears DJ, Mundlos S. Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics : Ejhg. 18: 1310-4. PMID 20648051 DOI: 10.1038/Ejhg.2010.116  1
2010 Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S. Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. Bmc Medical Genetics. 11: 110. PMID 20618940 DOI: 10.1186/1471-2350-11-110  1
2010 Ratzka A, Mundlos S, Vortkamp A. Expression patterns of sulfatase genes in the developing mouse embryo. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 239: 1779-88. PMID 20503373 DOI: 10.1002/Dvdy.22294  1
2010 Villavicencio-Lorini P, Kuss P, Friedrich J, Haupt J, Farooq M, Türkmen S, Duboule D, Hecht J, Mundlos S. Homeobox genes d11-d13 and a13 control mouse autopod cortical bone and joint formation. The Journal of Clinical Investigation. 120: 1994-2004. PMID 20458143 DOI: 10.1172/Jci41554  1
2010 Witte F, Bernatik O, Kirchner K, Masek J, Mahl A, Krejci P, Mundlos S, Schambony A, Bryja V, Stricker S. Negative regulation of Wnt signaling mediated by CK1-phosphorylated Dishevelled via Ror2. Faseb Journal : Official Publication of the Federation of American Societies For Experimental Biology. 24: 2417-26. PMID 20215527 DOI: 10.1096/Fj.09-150615  1
2010 Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Krüger G, Hiort O, Seemann P, Mundlos S. Deletion and point mutations of PTHLH cause brachydactyly type E. American Journal of Human Genetics. 86: 434-9. PMID 20170896 DOI: 10.1016/J.Ajhg.2010.01.023  1
2010 Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, König R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, ... ... Mundlos S, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nature Genetics. 42: 27-9. PMID 19966803 DOI: 10.1038/Ng.497  1
2010 Weise A, Timmermann B, Grabherr M, Werber M, Heyn P, Kosyakova N, Liehr T, Neitzel H, Konrat K, Bommer C, Dietrich C, Rajab A, Reinhardt R, Mundlos S, Lindner TH, et al. High-throughput sequencing of microdissected chromosomal regions. European Journal of Human Genetics : Ejhg. 18: 457-62. PMID 19888302 DOI: 10.1038/Ejhg.2009.196  1
2009 Seemann P, Brehm A, König J, Reissner C, Stricker S, Kuss P, Haupt J, Renninger S, Nickel J, Sebald W, Groppe JC, Plöger F, Pohl J, Schmidt-von Kegler M, Walther M, ... ... Mundlos S, et al. Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. Plos Genetics. 5: e1000747. PMID 19956691 DOI: 10.1371/Journal.Pgen.1000747  1
2009 Shen Q, Little SC, Xu M, Haupt J, Ast C, Katagiri T, Mundlos S, Seemann P, Kaplan FS, Mullins MC, Shore EM. The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. The Journal of Clinical Investigation. 119: 3462-72. PMID 19855136 DOI: 10.1172/Jci37412  1
2009 Köhler S, Schulz MH, Krawitz P, Bauer S, Dölken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. American Journal of Human Genetics. 85: 457-64. PMID 19800049 DOI: 10.1016/J.Ajhg.2009.09.003  1
2009 van Wijk NV, Witte F, Feike AC, Schambony A, Birchmeier W, Mundlos S, Stricker S. The LIM domain protein Wtip interacts with the receptor tyrosine kinase Ror2 and inhibits canonical Wnt signalling. Biochemical and Biophysical Research Communications. 390: 211-6. PMID 19785987 DOI: 10.1016/J.Bbrc.2009.09.086  1
2009 Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, ... ... Mundlos S, et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic options. American Journal of Medical Genetics. Part A. 149: 2327-38. PMID 19764036 DOI: 10.1002/Ajmg.A.33045  1
2009 Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, ... ... Mundlos S, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics. 41: 1016-21. PMID 19648921 DOI: 10.1038/Ng.413  1
2009 Schwarzer W, Witte F, Rajab A, Mundlos S, Stricker S. A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes. Human Molecular Genetics. 18: 4013-21. PMID 19640924 DOI: 10.1093/Hmg/Ddp345  1
2009 Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, Santos HG, van Harssel JJ, de Ravel T, Wilkie AO, Gal A, Mundlos S. Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics. 41: 862-3. PMID 19639023 DOI: 10.1038/Ng0809-862  1
2009 Seifert W, Beninde J, Hoffmann K, Lindner TH, Bassir C, Aksu F, Hübner C, Verbeek NE, Mundlos S, Horn D. HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing. European Journal of Human Genetics : Ejhg. 17: 1570-6. PMID 19568269 DOI: 10.1038/Ejhg.2009.104  1
2009 Türkmen S, Guo G, Garshasbi M, Hoffmann K, Alshalah AJ, Mischung C, Kuss A, Humphrey N, Mundlos S, Robinson PN. CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gait. Plos Genetics. 5: e1000487. PMID 19461874 DOI: 10.1371/Journal.Pgen.1000487  1
2009 Bieler FH, Ott CE, Thompson MS, Seidel R, Ahrens S, Epari DR, Wilkening U, Schaser KD, Mundlos S, Duda GN. Biaxial cell stimulation: A mechanical validation. Journal of Biomechanics. 42: 1692-6. PMID 19446815 DOI: 10.1016/J.Jbiomech.2009.04.013  1
2009 Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, ... ... Mundlos S, et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics. 18: 2149-65. PMID 19321599 DOI: 10.1093/Hmg/Ddp148  1
2009 Ott CE, Bauer S, Manke T, Ahrens S, Rödelsperger C, Grünhagen J, Kornak U, Duda G, Mundlos S, Robinson PN. Promiscuous and depolarization-induced immediate-early response genes are induced by mechanical strain of osteoblasts Journal of Bone and Mineral Research. 24: 1247-1262. PMID 19257815 DOI: 10.1359/Jbmr.090206  1
2009 Gao B, Hu J, Stricker S, Cheung M, Ma G, Law KF, Witte F, Briscoe J, Mundlos S, He L, Cheah KS, Chan D. A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range. Nature. 458: 1196-200. PMID 19252479 DOI: 10.1038/Nature07862  1
2009 Witte F, Dokas J, Neuendorf F, Mundlos S, Stricker S. Comprehensive expression analysis of all Wnt genes and their major secreted antagonists during mouse limb development and cartilage differentiation. Gene Expression Patterns : Gep. 9: 215-23. PMID 19185060 DOI: 10.1016/J.Gep.2008.12.009  1
2009 Kaplan FS, Xu M, Seemann P, Connor JM, Glaser DL, Carroll L, Delai P, Fastnacht-Urban E, Forman SJ, Gillessen-Kaesbach G, Hoover-Fong J, Köster B, Pauli RM, Reardon W, Zaidi SA, ... ... Mundlos S, et al. Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. Human Mutation. 30: 379-90. PMID 19085907 DOI: 10.1002/Humu.20868  1
2008 Newman WG, Clayton-Smith J, Metcalfe K, Cole R, Tartaglia M, Brancati F, Morara S, Novelli A, Liu X, Siminovitch KA, Mundlos S, Tassabehji M, Black GC. Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24. American Journal of Medical Genetics. Part A. 146: 3034-7. PMID 19006212 DOI: 10.1002/Ajmg.A.32564  1
2008 Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, ... ... Mundlos S, et al. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature Genetics. 40: 1410-2. PMID 18997784 DOI: 10.1038/Ng.252  1
2008 Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. American Journal of Human Genetics. 83: 610-5. PMID 18950739 DOI: 10.1016/J.Ajhg.2008.09.017  1
2008 Pamuk ON, Mundlos S, Cakir N. Cleidocranial dysplasia in a mother and her two children. Joint, Bone, Spine : Revue Du Rhumatisme. 75: 725-7. PMID 18818114 DOI: 10.1016/j.jbspin.2007.10.013  0.01
2008 Winkel A, Stricker S, Tylzanowski P, Seiffart V, Mundlos S, Gross G, Hoffmann A. Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. Cellular Signalling. 20: 2134-44. PMID 18762249 DOI: 10.1016/J.Cellsig.2008.08.009  1
2008 Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB. Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology. 71: 1602-8. PMID 18716235 DOI: 10.1212/01.Wnl.0000327822.52212.C7  1
2008 Busche A, Klopocki E, Ullmann R, Mundlos S, Horn D. A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics. 51: 615-21. PMID 18674647 DOI: 10.1016/J.Ejmg.2008.06.006  1
2008 Jeong JH, Jin JS, Kim HN, Kang SM, Liu JC, Lengner CJ, Otto F, Mundlos S, Stein JL, van Wijnen AJ, Lian JB, Stein GS, Choi JY. Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. Journal of Cellular Physiology. 217: 511-7. PMID 18636555 DOI: 10.1002/Jcp.21524  1
2008 Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S. Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics. 74: 560-5. PMID 18616733 DOI: 10.1111/J.1399-0004.2008.01050.X  1
2008 Tzschach A, Tinschert S, Kaminsky E, Lusga E, Mundlos S, Graul-Neumann LM. Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics. Part A. 146: 1859-64. PMID 18553548 DOI: 10.1002/Ajmg.A.32389  1
2008 Humphrey N, Mundlos S, Türkmen S. Genes and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America. 105: E26. PMID 18483196 DOI: 10.1073/Pnas.0802839105  1
2008 Hecht J, Stricker S, Wiecha U, Stiege A, Panopoulou G, Podsiadlowski L, Poustka AJ, Dieterich C, Ehrich S, Suvorova J, Mundlos S, Seitz V. Evolution of a core gene network for skeletogenesis in chordates. Plos Genetics. 4: e1000025. PMID 18369444 DOI: 10.1371/Journal.Pgen.1000025  1
2008 Türkmen S, Hoffmann K, Demirhan O, Aruoba D, Humphrey N, Mundlos S. Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. European Journal of Human Genetics : Ejhg. 16: 1070-4. PMID 18364738 DOI: 10.1038/Ejhg.2008.73  1
2008 Raz R, Stricker S, Gazzerro E, Clor JL, Witte F, Nistala H, Zabski S, Pereira RC, Stadmeyer L, Wang X, Gowen L, Sleeman MW, Yancopoulos GD, Canalis E, Mundlos S, et al. The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Development (Cambridge, England). 135: 1713-23. PMID 18353862 DOI: 10.1242/Dev.015149  1
2008 Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, ... ... Mundlos S, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. American Journal of Human Genetics. 82: 464-76. PMID 18252226 DOI: 10.1016/J.Ajhg.2007.11.006  1
2008 Ratzka A, Kalus I, Moser M, Dierks T, Mundlos S, Vortkamp A. Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development Developmental Dynamics. 237: 339-353. PMID 18213582 DOI: 10.1002/Dvdy.21423  1
2008 Kornak U, Reynders E, Dimopoulou A, Van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F, Dobyns WB, Quelhas D, Vilarinho L, Leao-Teles E, Greally M, Seemanova E, ... ... Mundlos S, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Nature Genetics. 40: 32-34. PMID 18157129 DOI: 10.1038/Ng.2007.45  1
2008 Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Human Mutation. 29: 289-98. PMID 18022865 DOI: 10.1002/Humu.20656  1
2008 Klopocki E, Graul-Neumann LM, Grieben U, Tönnies H, Ropers HH, Horn D, Mundlos S, Ullmann R. A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics. 167: 903-8. PMID 17932688 DOI: 10.1007/S00431-007-0616-7  1
2007 Abo-Dalo B, Kim HG, Roes M, Stefanova M, Higgins A, Shen Y, Mundlos S, Quade BJ, Gusella JF, Kutsche K. Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. American Journal of Medical Genetics. Part A. 143: 2668-74. PMID 17937436 DOI: 10.1002/Ajmg.A.32034  1
2007 Seitz V, Stiege A, Mundlos S, Lenze D, Lammert H, Clermont A, Hirsch B, Von Der Wall E, Müller H, Kirsch A, Diaz-Espada F, Uharek L, Anagnostopoulos I, Stein H, Hummel M. Immunoglobulin receptor evolution in follicular lymphoma and a review of literature. Leukemia & Lymphoma. 48: 2063-7. PMID 17917975 DOI: 10.1080/10428190701540983  1
2007 Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. American Journal of Human Genetics. 81: 388-96. PMID 17668388 DOI: 10.1086/519697  1
2007 Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, et al. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. Journal of Medical Genetics. 44: 651-6. PMID 17586837 DOI: 10.1136/Jmg.2007.051276  1
2007 Kolanczyk M, Kossler N, Kühnisch J, Lavitas L, Stricker S, Wilkening U, Manjubala I, Fratzl P, Spörle R, Herrmann BG, Parada LF, Kornak U, Mundlos S. Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics. 16: 874-86. PMID 17317783 DOI: 10.1093/Hmg/Ddm032  1
2007 Klopocki E, Schulze H, Strauss G, Ott CE, Hall J, Trotier F, Fleischhauer S, Greenhalgh L, Newbury-Ecob RA, Neumann LM, Habenicht R, König R, Seemanova E, Megarbane A, Ropers HH, ... ... Mundlos S, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. American Journal of Human Genetics. 80: 232-40. PMID 17236129 DOI: 10.1086/510919  1
2007 Trepczik B, Lienau J, Schell H, Epari DR, Thompson MS, Hoffmann JE, Kadow-Romacker A, Mundlos S, Duda GN. Endochondral ossification in vitro is influenced by mechanical bending. Bone. 40: 597-603. PMID 17141595 DOI: 10.1016/J.Bone.2006.10.011  1
2007 Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. Journal of Medical Genetics. 44: 131-5. PMID 17056636 DOI: 10.1136/Jmg.2006.046300  1
2007 Hecht J, Seitz V, Urban M, Wagner F, Robinson PN, Stiege A, Dieterich C, Kornak U, Wilkening U, Brieske N, Zwingman C, Kidess A, Stricker S, Mundlos S. Detection of novel skeletogenesis target genes by comprehensive analysis of a Runx2(-/-) mouse model. Gene Expression Patterns : Gep. 7: 102-12. PMID 16829211 DOI: 10.1016/J.Modgep.2006.05.014  1
2007 Hoffmann K, Müller J, Michalk A, Lochmüller H, Mundlos S, Martelli M, Kaindl A, Hübner C. G.P.10.06 Myasthenia and arthrogryposis multiplex congenita Neuromuscular Disorders. 17: 819-820. DOI: 10.1016/J.Nmd.2007.06.197  1
2007 Zemojtel T, Kolanczyk M, Kossler N, Stricker S, Lurz R, Mikula I, Duchniewicz M, Schuelke M, Ghafourifar P, Martasek P, Vingron M, Mundlos S. Corrigendum to "Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate" [FEBS Lett. 580 (2006) 455-462] (DOI:10.1016/j.febslet.2005.12.038) Febs Letters. 581: 2072-2073. DOI: 10.1016/J.Febslet.2007.04.006  1
2006 Stricker S, Verhey van Wijk N, Witte F, Brieske N, Seidel K, Mundlos S. Cloning and expression pattern of chicken Ror2 and functional characterization of truncating mutations in Brachydactyly type B and Robinow syndrome. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 235: 3456-65. PMID 17061261 DOI: 10.1002/Dvdy.20993  1
2006 Guo G, Booms P, Halushka M, Dietz HC, Ney A, Stricker S, Hecht J, Mundlos S, Robinson PN. Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation. 114: 1855-62. PMID 17030689 DOI: 10.1161/Circulationaha.105.601674  1
2006 Zemojtel T, Fröhlich A, Palmieri MC, Kolanczyk M, Mikula I, Wyrwicz LS, Wanker EE, Mundlos S, Vingron M, Martasek P, Durner J. Plant nitric oxide synthase: a never-ending story? Trends in Plant Science. 11: 524-5; author reply . PMID 17030145 DOI: 10.1016/J.Tplants.2006.09.008  1
2006 Alt B, Elsalini OA, Schrumpf P, Haufs N, Lawson ND, Schwabe GC, Mundlos S, Grüters A, Krude H, Rohr KB. Arteries define the position of the thyroid gland during its developmental relocalisation. Development (Cambridge, England). 133: 3797-804. PMID 16968815 DOI: 10.1242/Dev.02550  1
2006 Lehmann K, Seemann P, Boergermann J, Morin G, Reif S, Knaus P, Mundlos S. A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. European Journal of Human Genetics : Ejhg. 14: 1248-54. PMID 16957682 DOI: 10.1038/Sj.Ejhg.5201708  1
2006 Müller D, Klopocki E, Neumann LM, Mundlos S, Taupitz M, Schulze I, Ropers HH, Querfeld U, Ullmann R. A complex phenotype with cystic renal disease Kidney International. 70: 1656-1660. PMID 16912708 DOI: 10.1038/Sj.Ki.5001746  1
2006 Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28Mb deletion encompassing the TBX3 gene European Journal of Human Genetics. 14: 1274-1279. PMID 16896345 DOI: 10.1038/Sj.Ejhg.5201696  1
2006 Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, ... Mundlos S, et al. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. American Journal of Human Genetics. 79: 402-8. PMID 16826533 DOI: 10.1086/506332  1
2006 Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I, Delague V, Boltshauser E, Talim B, Horvath R, Robinson PN, ... ... Mundlos S, et al. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. American Journal of Human Genetics. 79: 303-12. PMID 16826520 DOI: 10.1086/506257  1
2006 Hecht J, Kuhl H, Haas SA, Bauer S, Poustka AJ, Lienau J, Schell H, Stiege AC, Seitz V, Reinhardt R, Duda GN, Mundlos S, Robinson PN. Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep Bmc Genomics. 7. PMID 16822315 DOI: 10.1186/1471-2164-7-172  1
2006 Koch M, Veit G, Stricker S, Bhatt P, Kutsch S, Zhou P, Reinders E, Hahn RA, Song R, Burgeson RE, Gerecke DR, Mundlos S, Gordon MK. Expression of type XXIII collagen mRNA and protein. The Journal of Biological Chemistry. 281: 21546-57. PMID 16728390 DOI: 10.1074/Jbc.M604131200  1
2006 Stricker S, Brieske N, Haupt J, Mundlos S. Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development. Gene Expression Patterns : Gep. 6: 826-34. PMID 16554187 DOI: 10.1016/J.Modgep.2006.02.003  1
2006 Klopocki E, Fiebig B, Robinson P, Tönnies H, Erdogan F, Ropers HH, Mundlos S, Ullmann R. A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2 American Journal of Medical Genetics. 140: 873-877. PMID 16528753 DOI: 10.1002/Ajmg.A.31163  1
2006 Booms P, Ney A, Barthel F, Moroy G, Counsell D, Gille C, Guo G, Pregla R, Mundlos S, Alix AJ, Robinson PN. A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. Journal of Molecular and Cellular Cardiology. 40: 234-46. PMID 16442122 DOI: 10.1016/J.Yjmcc.2005.11.009  1
2006 Zemojtel T, Kolanczyk M, Kossler N, Stricker S, Lurz R, Mikula I, Duchniewicz M, Schuelke M, Ghafourifar P, Martasek P, Vingron M, Mundlos S. Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate. Febs Letters. 580: 455-62. PMID 16380119 DOI: 10.1016/J.Febslet.2005.12.038  1
2006 Dlugaszewska B, Silahtaroglu A, Menzel C, Kübart S, Cohen M, Mundlos S, Tümer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Breakpoints around the HOXD cluster result in various limb malformations Journal of Medical Genetics. 43: 111-118. PMID 15980115 DOI: 10.1136/Jmg.2005.033555  1
2005 Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Plöger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. The Journal of Clinical Investigation. 115: 2373-81. PMID 16127465 DOI: 10.1172/Jci25118  1
2005 Pietschmann A, Mehdipour P, Mehdipour P, Atri M, Hofmann W, Hosseini-Asl SS, Scherneck S, Mundlos S, Peters H. Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families. Journal of Cancer Research and Clinical Oncology. 131: 552-8. PMID 15918047 DOI: 10.1007/S00432-005-0678-8  1
2005 Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H. A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. The Journal of Clinical Investigation. 115: 1250-7. PMID 15864348 DOI: 10.1172/Jci22760  0.01
2005 Niedermaier M, Schwabe GC, Fees S, Helmrich A, Brieske N, Seemann P, Hecht J, Seitz V, Stricker S, Leschik G, Schrock E, Selby PB, Mundlos S. An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. The Journal of Clinical Investigation. 115: 900-9. PMID 15841179 DOI: 10.1172/Jci200523675  1
2005 Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). Journal of Medical Genetics. 42: 292-8. PMID 15805154 DOI: 10.1136/Jmg.2004.027821  1
2005 Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG. Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome Heart. 91: 383-384. PMID 15710732 DOI: 10.1136/hrt.2004.036855  1
2005 Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, ... ... Mundlos S, et al. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nature Genetics. 37: 221-3. PMID 15696165 DOI: 10.1038/Ng1517  1
2005 Booms P, Pregla R, Ney A, Barthel F, Reinhardt DP, Pletschacher A, Mundlos S, Robinson PN. RGD-containing fibrillin-1 fragments upregulate matrix metalloproteinase expression in cell culture: a potential factor in the pathogenesis of the Marfan syndrome. Human Genetics. 116: 51-61. PMID 15517394 DOI: 10.1007/S00439-004-1194-7  1
2004 Sammar M, Stricker S, Schwabe GC, Sieber C, Hartung A, Hanke M, Oishi I, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P. Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells : Devoted to Molecular & Cellular Mechanisms. 9: 1227-38. PMID 15569154 DOI: 10.1111/J.1365-2443.2004.00799.X  1
2004 Innis JW, Mortlock D, Chen Z, Ludwig M, Williams ME, Williams TM, Doyle CD, Shao Z, Glynn M, Mikulic D, Lehmann K, Mundlos S, Utsch B. Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics. 13: 2841-51. PMID 15385446 DOI: 10.1093/Hmg/Ddh306  1
2004 Albrecht AN, Kornak U, Böddrich A, Süring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S. A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics. 13: 2351-9. PMID 15333588 DOI: 10.1093/Hmg/Ddh277  1
2004 Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics. 75: 27-34. PMID 15146390 DOI: 10.1086/422013  1
2004 Thiele H, McCann C, van't Padje S, Schwabe GC, Hennies HC, Camera G, Opitz J, Laxova R, Mundlos S, Nürnberg P. Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics. 41: 213-8. PMID 14985386 DOI: 10.1136/Jmg.2003.014894  1
2003 Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Süring K, Majewski F, Tinschert S, Grzeschik KH, Müller D, Knaus P, Nürnberg P, Mundlos S. Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences of the United States of America. 100: 12277-82. PMID 14523231 DOI: 10.1073/Pnas.2133476100  1
2003 Stricker S, Poustka AJ, Wiecha U, Stiege A, Hecht J, Panopoulou G, Vilcinskas A, Mundlos S, Seitz V. A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution. Developmental and Comparative Immunology. 27: 673-84. PMID 12798364 DOI: 10.1016/S0145-305X(03)00037-5  1
2003 Stock M, Schäfer H, Stricker S, Gross G, Mundlos S, Otto F. Expression of galectin-3 in skeletal tissues is controlled by Runx2. The Journal of Biological Chemistry. 278: 17360-7. PMID 12604608 DOI: 10.1074/Jbc.M207631200  1
2002 Sander T, Toliat MR, Heils A, Leschik G, Becker C, Rüschendorf F, Rohde K, Mundlos S, Nürnberg P. Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy Epilepsy Research. 51: 249-255. PMID 12399075 DOI: 10.1016/S0920-1211(02)00152-3  1
2002 Stricker S, Fundele R, Vortkamp A, Mundlos S. Role of Runx genes in chondrocyte differentiation. Developmental Biology. 245: 95-108. PMID 11969258 DOI: 10.1006/Dbio.2002.0640  1
2002 Albrecht AN, Schwabe GC, Stricker S, Böddrich A, Wanker EE, Mundlos S. The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. Mechanisms of Development. 112: 53-67. PMID 11850178 DOI: 10.1016/S0925-4773(01)00639-6  1
2000 Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AOM, Kömec R, Mundlos S. Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B American Journal of Human Genetics. 67: 822-831. PMID 10986040 DOI: 10.1086/303084  1
1999 Bohring A, Lewin SO, Reynolds JF, Voigtländer T, Rittinger O, Carey JC, Köpernik M, Smith R, Zackai EH, Leonard NJ, Gritter HL, Bamforth JS, Okun N, McLeod DR, Super M, ... ... Mundlos S, et al. Polytopic anomalies with agenesis of the lower vertebral column. American Journal of Medical Genetics. 87: 99-114. PMID 10533024 DOI: 10.1002/(Sici)1096-8628(19991119)87:2<99::Aid-Ajmg1>3.0.Co;2-Q  1
1999 Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics Journal of Medical Genetics. 36: 177-182. DOI: 10.1136/Jmg.36.3.177  0.01
1998 Yu J, Madison JM, Mundlos S, Winston F, Olsen BR. Characterization of a human homologue of the Saccharomyces cerevisiae transcription factor Spt3 (SUPT3H) Genomics. 53: 90-96. PMID 9787080 DOI: 10.1006/Geno.1998.5500  1
1998 Rimoin DL, Francomano GA, Giedion A, Hall C, Kaitila I, Cohn D, Gorlin R, Hall J, Horton W, Krakow D, Le Merrer M, Lachman R, Mundlos S, Poznanski AK, Sillence D, et al. International nomenclature and classification of the osteochondrodysplasias (1997) international working group on constitutional diseases of bone American Journal of Medical Genetics. 79: 376-382. PMID 9779805 DOI: 10.1002/(Sici)1096-8628(19981012)79:5<376::Aid-Ajmg9>3.0.Co;2-H  1
1997 Weed M, Mundlos S, Olsen BR. The role of sonic hedgehog in vertebrate development Matrix Biology. 16: 53-58. PMID 9205942 DOI: 10.1016/S0945-053X(97)90072-X  1
1997 Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, Lindhout D, Cole WG, Henn W, Knoll JH, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell. 89: 773-9. PMID 9182765 DOI: 10.1016/S0092-8674(00)80260-3  1
1997 Mundlos S, Olsen BR. Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways Faseb Journal. 11: 125-132. PMID 9039954 DOI: 10.1096/Fasebj.11.2.9039954  1
1997 Van Cappellen P, Ingall ED, Warren ST, Muragaki Y, Mundlos S, Upton J, Olsen BR. Polyalanine expansion in synpolydactyly might result from unequal crossing-over of HOXD13 Science. 275: 408-409. PMID 9005557 DOI: 10.1126/Science.275.5298.408  1
1996 Mundlos S, Huang LF, Selby P, Olsen BR. Cleidocranial dysplasia in mice Annals of the New York Academy of Sciences. 785: 301-302. PMID 8702161 DOI: 10.1111/J.1749-6632.1996.Tb56290.X  1
1996 Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13 Science. 272: 548-551. PMID 8614804 DOI: 10.1126/Science.272.5261.548  1
1994 Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel B. Autosomal dominant spondylarthropathy due to a type II procollagen gene (COL2A1) point mutation Human Mutation. 4: 257-262. PMID 7866404 DOI: 10.1002/Humu.1380040405  1
1993 Winterpacht A, Hilbert M, Schwarze U, Mundlos S, Spranger J, Zabel BU. Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect Nature Genetics. 3: 323-326. PMID 7981752 DOI: 10.1038/Ng0493-323  1
1992 Wirth S, Hueter A, Blaha I, Mundlos S, Keller KM, Zabel B. Detection of hepatitis B virus DNA in the liver of children with chronic hepatitis B by in situ hybridization and its relation to other viral markers. Journal of Pediatric Gastroenterology and Nutrition. 14: 128-34. PMID 1593366 DOI: 10.1097/00005176-199202000-00002  1
1991 Turk E, Zabel B, Mundlos S, Dyer J, Wright EM. Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter. Nature. 350: 354-6. PMID 2008213 DOI: 10.1038/350354A0  1
1991 Wright EM, Turk E, Zabel B, Mundlos S, Dyer J. Molecular genetics of intestinal glucose transport. The Journal of Clinical Investigation. 88: 1435-40. PMID 1939637 DOI: 10.1172/Jci115451  1
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