| Year |
Citation |
Score |
| 2023 |
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, ... ... Mundlos S, et al. Author Correction: Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications. 14: 6301. PMID 37813867 DOI: 10.1038/s41467-023-42123-7 |
0.58 |
|
| 2023 |
Allou L, Mundlos S. Disruption of regulatory domains and novel transcripts as disease-causing mechanisms. Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology. e2300010. PMID 37381881 DOI: 10.1002/bies.202300010 |
0.816 |
|
| 2023 |
Chamorro González R, Conrad T, Stöber MC, Xu R, Giurgiu M, Rodriguez-Fos E, Kasack K, Brückner L, van Leen E, Helmsauer K, Dorado Garcia H, Stefanova ME, Hung KL, Bei Y, Schmelz K, ... ... Mundlos S, et al. Parallel sequencing of extrachromosomal circular DNAs and transcriptomes in single cancer cells. Nature Genetics. 55: 880-890. PMID 37142849 DOI: 10.1038/s41588-023-01386-y |
0.37 |
|
| 2023 |
Okonechnikov K, Camgöz A, Chapman O, Wani S, Park DE, Hübner JM, Chakraborty A, Pagadala M, Bump R, Chandran S, Kraft K, Acuna-Hidalgo R, Reid D, Sikkink K, Mauermann M, ... ... Mundlos S, et al. 3D genome mapping identifies subgroup-specific chromosome conformations and tumor-dependency genes in ependymoma. Nature Communications. 14: 2300. PMID 37085539 DOI: 10.1038/s41467-023-38044-0 |
0.613 |
|
| 2023 |
Melo US, Jatzlau J, Prada-Medina CA, Flex E, Hartmann S, Ali S, Schöpflin R, Bernardini L, Ciolfi A, Moeinzadeh MH, Klever MK, Altay A, Vallecillo-García P, Carpentieri G, Delledonne M, ... ... Mundlos S, et al. Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation. Nature Communications. 14: 2034. PMID 37041138 DOI: 10.1038/s41467-023-37585-8 |
0.647 |
|
| 2023 |
Cova G, Glaser J, Schöpflin R, Prada-Medina CA, Ali S, Franke M, Falcone R, Federer M, Ponzi E, Ficarella R, Novara F, Wittler L, Timmermann B, Gentile M, Zuffardi O, ... ... Mundlos S, et al. Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3. Nature Communications. 14: 1475. PMID 36928426 DOI: 10.1038/s41467-023-37057-z |
0.362 |
|
| 2023 |
Castilla-Ibeas A, Zdral S, Galán L, Haro E, Allou L, Campa VM, Icardo JM, Mundlos S, Oberg KC, Ros MA. Failure of digit tip regeneration in the absence of Lmx1b suggests Lmx1b functions disparate from dorsoventral polarity. Cell Reports. 42: 111975. PMID 36641754 DOI: 10.1016/j.celrep.2022.111975 |
0.78 |
|
| 2022 |
Ringel AR, Szabo Q, Chiariello AM, Chudzik K, Schöpflin R, Rothe P, Mattei AL, Zehnder T, Harnett D, Laupert V, Bianco S, Hetzel S, Glaser J, Phan MHQ, Schindler M, ... ... Mundlos S, et al. Repression and 3D-restructuring resolves regulatory conflicts in evolutionarily rearranged genomes. Cell. 185: 3689-3704.e21. PMID 36179666 DOI: 10.1016/j.cell.2022.09.006 |
0.815 |
|
| 2022 |
Kraft K, Yost KE, Murphy SE, Magg A, Long Y, Corces MR, Granja JM, Wittler L, Mundlos S, Cech TR, Boettiger AN, Chang HY. Polycomb-mediated genome architecture enables long-range spreading of H3K27 methylation. Proceedings of the National Academy of Sciences of the United States of America. 119: e2201883119. PMID 35617427 DOI: 10.1073/pnas.2201883119 |
0.69 |
|
| 2022 |
Lybaek H, Robson M, de Leeuw N, Hehir-Kwa JY, Jeffries A, Haukanes BI, Berland S, de Bruijn D, Mundlos S, Spielmann M, Houge G. LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. Autism Research : Official Journal of the International Society For Autism Research. PMID 35088940 DOI: 10.1002/aur.2677 |
0.611 |
|
| 2021 |
Gjaltema RAF, Schwämmle T, Kautz P, Robson M, Schöpflin R, Ravid Lustig L, Brandenburg L, Dunkel I, Vechiatto C, Ntini E, Mutzel V, Schmiedel V, Marsico A, Mundlos S, Schulz EG. Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus. Molecular Cell. 82: 190-208.e17. PMID 34932975 DOI: 10.1016/j.molcel.2021.11.023 |
0.597 |
|
| 2021 |
Hung KL, Yost KE, Xie L, Shi Q, Helmsauer K, Luebeck J, Schöpflin R, Lange JT, Chamorro González R, Weiser NE, Chen C, Valieva ME, Wong IT, Wu S, Dehkordi SR, ... ... Mundlos S, et al. ecDNA hubs drive cooperative intermolecular oncogene expression. Nature. PMID 34819668 DOI: 10.1038/s41586-021-04116-8 |
0.697 |
|
| 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 |
0.365 |
|
| 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 |
0.305 |
|
| 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 |
0.814 |
|
| 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 |
0.614 |
|
| 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 |
0.327 |
|
| 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 |
0.306 |
|
| 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 |
0.394 |
|
| 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 |
0.789 |
|
| 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 |
0.776 |
|
| 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 |
0.786 |
|
| 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 |
0.339 |
|
| 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 |
0.391 |
|
| 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 |
0.343 |
|
| 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 |
0.634 |
|
| 2019 |
Robson MI, Mundlos S. Jumping retroviruses nudge TADs apart. Nature Genetics. PMID 31427790 DOI: 10.1038/S41588-019-0491-Y |
0.629 |
|
| 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 |
0.819 |
|
| 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 |
0.633 |
|
| 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 |
0.301 |
|
| 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 |
0.81 |
|
| 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 |
0.385 |
|
| 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 |
0.756 |
|
| 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 |
0.818 |
|
| 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 |
0.391 |
|
| 2019 |
Okonechnikov K, Hübner J, Chapman O, Chakraborty A, Bump R, Chandran S, Kraft K, Acuna Hidalgo R, Mundlos S, Coufal N, Levy M, Crawford J, Ay F, Mesirov J, Pajtler K, et al. GENE-15. TARGETING OF EPENDYMOMA AS INFORMED BY ONCOGENIC 3D GENOME ORGANIZATION Neuro-Oncology. 21: vi100-vi100. DOI: 10.1093/Neuonc/Noz175.417 |
0.662 |
|
| 2019 |
Okonechnikov K, Hübner J, Kraft K, Hidalgo RA, Bump R, Chandran S, Mundlos S, Mesirov J, Pajtler K, Dixon J, Pfister S, Kool M, Chavez L. GENE-02. CHROMOSOME CONFORMATION ANALYSIS OF EPENDYMOMA IDENTIFIES PUTATIVE TUMOR DEPENDENCY GENES ACTIVATED BY DISTAL ONCOGENIC ENHANCERS Neuro-Oncology. 21: ii80-ii81. DOI: 10.1093/Neuonc/Noz036.073 |
0.642 |
|
| 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 |
0.631 |
|
| 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 |
0.77 |
|
| 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 |
0.336 |
|
| 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 |
0.327 |
|
| 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 |
0.803 |
|
| 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 |
0.41 |
|
| 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 |
0.312 |
|
| 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 |
0.429 |
|
| 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 |
0.795 |
|
| 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 |
0.371 |
|
| 2018 |
Butscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S, Schinke T, Amling M, Kornak U, Oheim R. Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation For Osteoporosis and the National Osteoporosis Foundation of the Usa. 29: 1643-1651. PMID 29594386 DOI: 10.1007/S00198-018-4499-4 |
0.31 |
|
| 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 |
0.341 |
|
| 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 |
0.446 |
|
| 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 |
0.371 |
|
| 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 |
0.34 |
|
| 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 |
0.823 |
|
| 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 |
0.358 |
|
| 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 |
0.325 |
|
| 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 |
0.765 |
|
| 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 |
0.339 |
|
| 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 |
0.44 |
|
| 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 |
0.361 |
|
| 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 |
0.387 |
|
| 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 |
0.796 |
|
| 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 |
0.358 |
|
| 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 |
0.304 |
|
| 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 |
0.793 |
|
| 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 |
0.793 |
|
| 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 |
0.344 |
|
| 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 |
0.453 |
|
| 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 |
0.39 |
|
| 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 |
0.37 |
|
| 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 |
0.353 |
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| 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 |
0.371 |
|
| 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 |
0.422 |
|
| 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 |
0.385 |
|
| 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 |
0.765 |
|
| 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 |
0.362 |
|
| 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 |
0.365 |
|
| 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 |
0.4 |
|
| 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 |
0.372 |
|
| 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 |
0.314 |
|
| 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 |
0.648 |
|
| 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 |
0.691 |
|
| 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 |
0.399 |
|
| 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 |
0.318 |
|
| 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 |
0.789 |
|
| 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 |
0.403 |
|
| 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 |
0.309 |
|
| 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 |
0.383 |
|
| 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 |
0.305 |
|
| 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 |
0.404 |
|
| 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 |
0.345 |
|
| 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 |
0.409 |
|
| 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 |
0.401 |
|
| 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 |
0.406 |
|
| 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 |
0.4 |
|
| 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 |
0.355 |
|
| 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 |
0.383 |
|
| 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 |
0.34 |
|
| 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 |
0.329 |
|
| 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 |
0.357 |
|
| 2014 |
Lohan S, Spielmann M, Doelken SC, Flöttmann R, Muhammad F, Baig SM, Wajid M, Hülsemann W, Habenicht R, Kjaer KW, Patil SJ, Girisha KM, Abarca-Barriga HH, Mundlos S, Klopocki E. Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics. 86: 318-25. PMID 24456159 DOI: 10.1111/Cge.12352 |
0.352 |
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| 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 |
0.345 |
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| 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 |
0.788 |
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| 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 |
0.357 |
|
| 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 |
0.316 |
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| 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 |
0.43 |
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| 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 |
0.366 |
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| 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 |
0.797 |
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| 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 |
0.335 |
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| 2013 |
Mennen U, Mundlos S, Spielmann M. The Liebenberg syndrome: in depth analysis of the original family. The Journal of Hand Surgery, European Volume. 39: 919-25. PMID 23940102 DOI: 10.1177/1753193413502162 |
0.335 |
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| 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 |
0.415 |
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| 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 |
0.651 |
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| 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 |
0.358 |
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| 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 |
0.387 |
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| 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 |
0.382 |
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| 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 |
0.379 |
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| 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 |
0.331 |
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| 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 |
0.369 |
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| 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 |
0.415 |
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| 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 |
0.331 |
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| 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 |
0.778 |
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| 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 |
0.403 |
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| 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 |
0.657 |
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| 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 |
0.396 |
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| 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 |
0.314 |
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| 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 |
0.372 |
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| 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 |
0.363 |
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| 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 |
0.675 |
|
| 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 |
0.665 |
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| 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 |
0.643 |
|
| 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 |
0.329 |
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| 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 |
0.361 |
|
| 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 |
0.649 |
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| 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 |
0.404 |
|
| 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 |
0.307 |
|
| 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 |
0.64 |
|
| 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 |
0.354 |
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| 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 |
0.308 |
|
| 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 |
0.682 |
|
| 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 |
0.426 |
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| 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 |
0.352 |
|
| 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 |
0.683 |
|
| 2011 |
Diestelhorst J, Kotlarz D, Appaswamy G, Beier R, Krawitz PM, Robinson PN, Hecht J, Puchalka J, Schäffer AA, Pfeifer D, Baumann U, Pfister E, Brandes G, Palla G, Jacobs R, ... ... Mundlos S, et al. G6PC3 Deficiency Associated with Congenital Neutropenia and Enterocolitis Blood. 118: 2170-2170. DOI: 10.1182/Blood.V118.21.2170.2170 |
0.362 |
|
| 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 |
0.677 |
|
| 2010 |
Harder A, Titze S, Herbst L, Harder T, Guse K, Tinschert S, Kaufmann D, Rosenbaum T, Mautner VF, Windt E, Wahlländer-Danek U, Wimmer K, Mundlos S, Peters H. Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1. Twin Research and Human Genetics : the Official Journal of the International Society For Twin Studies. 13: 582-94. PMID 21142935 DOI: 10.1375/Twin.13.6.582 |
0.365 |
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| 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 |
0.348 |
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| 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 |
0.376 |
|
| 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 |
0.351 |
|
| 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 |
0.68 |
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| 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 |
0.647 |
|
| 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 |
0.406 |
|
| 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 |
0.378 |
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| 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 |
0.421 |
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| 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 |
0.416 |
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| 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 |
0.59 |
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| 2010 |
Robinson PN, Mundlos S. The human phenotype ontology. Clinical Genetics. 77: 525-34. PMID 20412080 DOI: 10.1111/J.1399-0004.2010.01436.X |
0.343 |
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| 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 |
0.614 |
|
| 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 |
0.391 |
|
| 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 |
0.34 |
|
| 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 |
0.309 |
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| 2010 |
Murakami Y, Krawitz PM, Robinson PN, Mundlos S, Maeda Y, Kinoshita T. Release of Alkaline Phosphatase Caused by PIGV Mutations In Patients with Hyperphosphatasia-Mental Retardation Syndrome (HPMR), a Recently Found Second Inherited GPI Anchor Deficiency. Blood. 116: 2031-2031. DOI: 10.1182/Blood.V116.21.2031.2031 |
0.38 |
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| 2010 |
Fiedler J, Strauss G, Wannack M, Fleischhauer S, Seidel K, Klopocki E, Mundlos S, Schmugge M, Schulze H. The Abrogated Thrombopoietin (TPO) Signal Transduction In Pediatric Patients Suffering From Thrombocytopenia-Absent Radii Syndrome Is Restored In Adult Patients, Suggesting An Additional, c-Mpl-Jak2-Independent Mechanism for Platelet Biogenesis. Blood. 116: 1561-1561. DOI: 10.1182/Blood.V116.21.1561.1561 |
0.301 |
|
| 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 |
0.677 |
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| 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 |
0.304 |
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| 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 |
0.649 |
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| 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 |
0.405 |
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| 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 |
0.655 |
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| 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 |
0.614 |
|
| 2009 |
Dutrannoy V, Klopocki E, Wei R, Bommer C, Mundlos S, Graul-Neumann LM, Trimborn M. De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation. European Journal of Medical Genetics. 52: 450-3. PMID 19576303 DOI: 10.1016/J.Ejmg.2009.06.004 |
0.361 |
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| 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 |
0.358 |
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| 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 |
0.399 |
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| 2009 |
Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. American Journal of Human Genetics. 84: 483-92. PMID 19327734 DOI: 10.1016/J.Ajhg.2009.03.001 |
0.454 |
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| 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 |
0.368 |
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| 2009 |
Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. Clinical Genetics. 75: 375-83. PMID 19320654 DOI: 10.1111/J.1399-0004.2009.01167.X |
0.359 |
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| 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 |
0.356 |
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| 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 |
0.671 |
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| 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 |
0.688 |
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| 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 |
0.379 |
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| 2009 |
Kornak U, Hennies H, Zhang H, Egerer J, Zhang X, Kühnisch J, Seifert W, Budde B, Brancati F, Wilcox W, Müller D, Kaplan P, Rajab A, Zampino G, Dallapiccola B, ... ... Mundlos S, et al. Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a novel RAB-6 interacting golgin Bone. 44: S232. DOI: 10.1016/J.Bone.2009.03.132 |
0.325 |
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| 2008 |
Kuss P, Villavicencio-Lorini P, Witte F, Klose J, Albrecht AN, Seemann P, Hecht J, Mundlos S. Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis. The Journal of Clinical Investigation. 119: 146-56. PMID 19075394 DOI: 10.1172/Jci36851 |
0.353 |
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| 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 |
0.386 |
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| 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 |
0.359 |
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| 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 |
0.339 |
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| 2008 |
Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA. Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics. Part A. 2804-9. PMID 18831060 DOI: 10.1002/Ajmg.A.32530 |
0.334 |
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| 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 |
0.613 |
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| 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 |
0.336 |
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| 2008 |
Douzgou S, Lehmann K, Mingarelli R, Mundlos S, Dallapiccola B. Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics. Part A. 2116-21. PMID 18629880 DOI: 10.1002/Ajmg.A.32435 |
0.372 |
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| 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 |
0.678 |
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| 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 |
0.356 |
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| 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 |
0.698 |
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| 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 |
0.416 |
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| 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 |
0.677 |
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| 2008 |
Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nürnberg P, Mundlos S. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics. Part A. 965-76. PMID 18348262 DOI: 10.1002/Ajmg.A.32143 |
0.304 |
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| 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 |
0.674 |
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| 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 |
0.382 |
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| 2008 |
Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics. 17: 1222-33. PMID 18203755 DOI: 10.1093/Hmg/Ddn012 |
0.338 |
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| 2008 |
Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K. A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Genetics. 45: 370-5. PMID 18178630 DOI: 10.1136/Jmg.2007.055699 |
0.433 |
|
| 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 |
0.322 |
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| 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 |
0.367 |
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| 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 |
0.332 |
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| 2008 |
Türkmen S, Muller S, Mundlos S, Henze G, Lode H. Acute Lymphoblastic Leukemia in a Case of Ring Chromosome Blood. 112: 4151-4151. DOI: 10.1182/Blood.V112.11.4151.4151 |
0.323 |
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| 2008 |
Türkmen S, Riehn M, Mundlos S, Thiel E, Burmeister T. A Novel BACH2-BCL2L1 Fusion Gene in the Burkitt’s Lymphoma Derived Cell Line BLUE-1 Blood. 112: 4146-4146. DOI: 10.1182/Blood.V112.11.4146.4146 |
0.399 |
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| 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 |
0.423 |
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| 2007 |
Uhrig S, Schlembach D, Waldispuehl-Geigl J, Schaffer W, Geigl J, Klopocki E, Mundlos S, Speicher MR. Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. American Journal of Human Genetics. 81: 866-8. PMID 17847015 DOI: 10.1086/521338 |
0.345 |
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| 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 |
0.391 |
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| 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 |
0.414 |
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| 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 |
0.647 |
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| 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 |
0.358 |
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| 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 |
0.345 |
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| 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 |
0.7 |
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| 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 |
0.583 |
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| 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 |
0.675 |
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| 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 |
0.598 |
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| 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 |
0.359 |
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| 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 |
0.42 |
|
| 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 |
0.668 |
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| 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 |
0.658 |
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| 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 |
0.365 |
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| 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 |
0.625 |
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| 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 |
0.683 |
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| 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 |
0.314 |
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| 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 |
0.346 |
|
| 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 |
0.611 |
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| 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 |
0.375 |
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| 2006 |
Demirhan O, Türkmen S, Schwabe GC, Soyupak S, Akgül E, Tastemir D, Karahan D, Mundlos S, Lehmann K. A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. Journal of Medical Genetics. 42: 314-7. PMID 15805157 DOI: 10.1136/Jmg.2004.023564 |
0.415 |
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| 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 |
0.648 |
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| 2005 |
Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Journal of Medical Genetics. 43: 225-31. PMID 16014698 DOI: 10.1136/Jmg.2005.034058 |
0.306 |
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| 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 |
0.33 |
|
| 2005 |
Albrecht A, Mundlos S. The other trinucleotide repeat: polyalanine expansion disorders. Current Opinion in Genetics & Development. 15: 285-93. PMID 15917204 DOI: 10.1016/J.Gde.2005.04.003 |
0.413 |
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| 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 |
0.393 |
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| 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 |
0.69 |
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| 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 |
0.321 |
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| 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 |
0.333 |
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| 2005 |
Sieber C, Sammar M, Stricker S, Schwabe GC, Hartung A, Pohl J, Minami Y, Sebald W, Mundlos S, Knaus P. Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2 Gbm Annual Fall Meeting Berlin/Potsdam 2005. 2005. DOI: 10.1240/sav_gbm_2005_h_001246 |
0.549 |
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| 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 Journal of Clinical Investigation. 115: 900-909. DOI: 10.1172/JCI200523675 |
0.617 |
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| 2005 |
Klopocki E, Neumann LM, Tönnies H, Mundlos S, Ullmann R. P4: Ulnar-mammary syndrome with mental retardation caused by a novel 0.8 Mb deletion encompassing the TBX3 gene European Journal of Medical Genetics. 48: 450. DOI: 10.1016/J.Ejmg.2005.10.011 |
0.336 |
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| 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 |
0.636 |
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| 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 |
0.352 |
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| 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 |
0.656 |
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| 2004 |
Robinson PN, Böhme U, Lopez R, Mundlos S, Nürnberg P. Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Human Molecular Genetics. 13: 1969-78. PMID 15254011 DOI: 10.1093/Hmg/Ddh207 |
0.417 |
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| 2004 |
Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proceedings of the National Academy of Sciences of the United States of America. 101: 10155-60. PMID 15215498 DOI: 10.1073/Pnas.0400334101 |
0.391 |
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| 2004 |
Schwabe GC, Mundlos S. Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie : Organ Der Deutschsprachigen Arbeitsgemeinschaft Fur Handchirurgie : Organ Der Deutschsprachigen Arbeitsgemeinschaft Fur Mikrochirurgie Der Peripheren Nerven Und Gefasse : Organ Der V.... 36: 85-97. PMID 15162306 DOI: 10.1055/S-2004-817884 |
0.32 |
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| 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 |
0.36 |
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| 2004 |
Rajab A, Kunze J, Mundlos S. Spondyloepiphyseal dysplasia Omani type: a new recessive type of SED with progressive spinal involvement. American Journal of Medical Genetics. Part A. 413-9. PMID 15098240 DOI: 10.1002/Ajmg.A.20606 |
0.315 |
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| 2004 |
Schwabe GC, Trepczik B, Süring K, Brieske N, Tucker AS, Sharpe PT, Minami Y, Mundlos S. Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 229: 400-10. PMID 14745966 DOI: 10.1002/Dvdy.10466 |
0.35 |
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| 2004 |
Schwabe GC, Türkmen S, Leschik G, Palanduz S, Stöver B, Goecke TO, Mundlos S. Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics. Part A. 356-63. PMID 14735582 DOI: 10.1002/Ajmg.A.20349 |
0.351 |
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| 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 |
0.673 |
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| 2003 |
Kornak U, Mundlos S. Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics. 73: 447-74. PMID 12900795 DOI: 10.1086/377110 |
0.334 |
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| 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 |
0.69 |
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| 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 |
0.676 |
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| 2002 |
Unger S, Mornet E, Mundlos S, Blaser S, Cole DE. Severe cleidocranial dysplasia can mimic hypophosphatasia. European Journal of Pediatrics. 161: 623-6. PMID 12424591 DOI: 10.1007/S00431-002-0978-9 |
0.396 |
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| 2002 |
Morava E, Kárteszi J, Weisenbach J, Caliebe A, Mundlos S, Méhes K. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics. 161: 619-22. PMID 12424590 DOI: 10.1007/S00431-002-0977-X |
0.396 |
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| 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 |
0.423 |
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| 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 |
0.676 |
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| 2002 |
Otto F, Kanegane H, Mundlos S. Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation. 19: 209-16. PMID 11857736 DOI: 10.1002/Humu.10043 |
0.457 |
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| 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 |
0.712 |
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| 2001 |
Tiller GE, Hannig VL, Dozier D, Carrel L, Trevarthen KC, Wilcox WR, Mundlos S, Haines JL, Gedeon AK, Gecz J. A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda. American Journal of Human Genetics. 68: 1398-407. PMID 11326333 DOI: 10.1086/320594 |
0.418 |
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| 2001 |
Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, et al. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nature Genetics. 28: 37-41. PMID 11326272 DOI: 10.1038/88236 |
0.382 |
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| 2001 |
Mundlos S. Defects of human skeletogenesis--models and mechanisms. Novartis Foundation Symposium. 232: 81-91; discussion 91. PMID 11277089 DOI: 10.1002/0470846658.Ch7 |
0.358 |
|
| 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 |
0.377 |
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| 1999 |
Quack I, Vonderstrass B, Stock M, Aylsworth AS, Becker A, Brueton L, Lee PJ, Majewski F, Mulliken JB, Suri M, Zenker M, Mundlos S, Otto F. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. American Journal of Human Genetics. 65: 1268-78. PMID 10521292 DOI: 10.1086/302622 |
0.402 |
|
| 1999 |
Kim IS, Otto F, Zabel B, Mundlos S. Regulation of chondrocyte differentiation by Cbfa1. Mechanisms of Development. 80: 159-70. PMID 10072783 DOI: 10.1016/S0925-4773(98)00210-X |
0.378 |
|
| 1999 |
Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics Journal of Medical Genetics. 36: 177-182. DOI: 10.1136/Jmg.36.3.177 |
0.471 |
|
| 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 |
0.502 |
|
| 1998 |
Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. American Journal of Human Genetics. 63: 155-62. PMID 9634515 DOI: 10.1086/301917 |
0.316 |
|
| 1997 |
Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S. Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 210: 33-40. PMID 9286593 DOI: 10.1002/(Sici)1097-0177(199709)210:1<33::Aid-Aja4>3.0.Co;2-2 |
0.507 |
|
| 1997 |
Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ. Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proceedings of the National Academy of Sciences of the United States of America. 94: 7458-63. PMID 9207113 DOI: 10.1073/Pnas.94.14.7458 |
0.52 |
|
| 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 |
0.519 |
|
| 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 |
0.528 |
|
| 1997 |
Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell. 89: 765-71. PMID 9182764 DOI: 10.1016/S0092-8674(00)80259-7 |
0.568 |
|
| 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 |
0.523 |
|
| 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 |
0.4 |
|
| 1997 |
Mundlos S, Olsen BR. Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development‐matrix components and their homeostasis The Faseb Journal. 11: 227-233. DOI: 10.1096/Fasebj.11.4.9068611 |
0.521 |
|
| 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 |
0.418 |
|
| 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 |
0.557 |
|
| 1995 |
Lehmann HW, Mundlos S, Winterpacht A, Brenner RE, Zabel B, Müller PK. Ehlers-Danlos syndrome type VII: phenotype and genotype. Archives of Dermatological Research. 286: 425-8. PMID 7864655 DOI: 10.1007/Bf00371566 |
0.369 |
|
| 1995 |
Winterpacht A, Schwarze U, Mundlos S, Menger H, Spranger J, Zabel B. Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia. Human Molecular Genetics. 3: 1891-3. PMID 7849719 DOI: 10.1093/Hmg/3.10.1891 |
0.357 |
|
| 1995 |
Mundlos S, Mulliken JB, Abramson DL, Warman ML, Knoll JH, Olsen BR. Genetic mapping of cleidocranial dysplasia and evidence of a microdeletion in one family. Human Molecular Genetics. 4: 71-5. PMID 7711736 DOI: 10.1093/Hmg/4.1.71 |
0.504 |
|
| 1995 |
Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia. Pediatric Radiology. 24: 431-5. PMID 7700721 DOI: 10.1007/Bf02011911 |
0.387 |
|
| 1994 |
Mundlos S. Expression patterns of matrix genes during human skeletal development. Progress in Histochemistry and Cytochemistry. 28: 1-47. PMID 8058966 DOI: 10.1016/S0079-6336(11)80048-3 |
0.345 |
|
| 1994 |
Mundlos S, Zabel B. Developmental expression of human cartilage matrix protein. Developmental Dynamics : An Official Publication of the American Association of Anatomists. 199: 241-52. PMID 8018988 DOI: 10.1002/Aja.1001990308 |
0.34 |
|
| 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 |
0.409 |
|
| 1994 |
Winterpacht A, Schwarze U, Menger H, Mundlos S, Spranger J, Zabel B. Specific skeletal dysplasias due to type II procollagen gene (COL2A1) defects Matrix Biology. 14: 392. DOI: 10.1016/0945-053X(94)90115-5 |
0.332 |
|
| 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 |
0.395 |
|
| 1992 |
Mundlos S, Spranger J. Genetic disorders of connective tissues. Current Opinion in Rheumatology. 3: 832-7. PMID 1751316 DOI: 10.1097/00002281-199110000-00014 |
0.398 |
|
| 1991 |
Mundlos S, Engel H, Michel-Behnke I, Zabel B. Distribution of type I and type II collagen gene expression during the development of human long bones. Bone. 11: 275-9. PMID 2242293 DOI: 10.1016/8756-3282(90)90080-I |
0.32 |
|
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