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.
J Clin Invest: 119(1) 146-56. 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.
Hum Mol Genet: in press. Epub. 29.7.2009 doi:10.1093hmg ddp345. 2009

Kurth I, Klopocki E, Stricker S, van Oosterwijk J, Vanek S, Altmann J, van Harssel J, de Ravel T, Wilkie A, Gal A, Mundlos S.
Duplications of non-coding elements 5´ of SOX9 are associated with brachydactyly/anonychia.
Nat Genet: 41(8) 862-863. 2009

Gao B., Hu J., Stricker S., Cheung M., Ma G., Law K.F., Witte F., Briscoe J., Mundlos S., He L.,
Cheah K.S. & Chan D.
A mutation in IHH that causes digit abnormalities alters its signalling capacity and range.
Nature: 458(7242) 1196-1201. 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 Expr Patterns: 9 215-223. 2009

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.
Cell Signal: 20(11) 2134-44. 2008

Van Maldergem L., Yuksel-Apak M., Kayserili H., Seemanova E., Giurgea S., Basel-Vanagaite L., Leao-Teles E., Vigneron J., Foulon M., Greally M., Jaeken J., Mundlos S. & Dobyns W.B.
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Neurology: 71(20) 1602-8. 2008

Tzschach A., Tinschert S., Kaminsky E., Lusga E., Mundlos S. & Graul-Neumann L.M.
Czech dysplasia: report of a large family and further delineation of the phenotype.
Am J Med Genet A: 146A(14) 1859-64. 2008

Tüysüz B., Gazio lu N., Ungür S., Aji D.Y. & Türkmen S.
The time of onset of abnormal calcification in spondylometaepiphyseal dysplasia, short limb-abnormal calcification type.
Pediatr Radiol: - -. 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.
Eur J Hum Genet: - -. 2008

Supanchart C. & Kornak U.
Ion channels and transporters in osteoclasts
Arch Biochem Biophys: 473(2) 161-5. 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.
Clin Genet: - -. 2008

Seifert W., Holder-Espinasse M., Kühnisch J., Kahrizi K., Tzschach A., Garshasbi M., Najmabadi H., Walter Kuss A., Kress W., Laureys G., Loeys B., Brilstra E., Mancini G.M., Dollfus H., Dahan K., Apse K., Christian Hennies H. & Horn D.
Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1.
Hum Mutat: - -. 2008

Seemann P. & Mundlos S.
The tale of FOP, NOGGIN and myristoylation: no data, no proof!
Genet Counsel: 19(3) 353-5; author reply 361-3. 2008

Schulz M.H., Bauer S. & Robinson P.N.
The generalised k-Truncated Suffix Tree for time-and space-efficient searches in multiple DNA or protein sequences.
Int J Bioinform Res Appl: 4(1) 81-95. 2008

Schell-Apacik C.C., Wagner K., Bihler M., Ertl-Wagner B., Heinrich U., Klopocki E., Kalscheuer V.M., Muenke M. & von Voss H.
Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
Am J Med Genet A: 146A(19) 2501-11. 2008

Robinson P.N., Köhler S., Bauer S., Seelow D., Horn D. & Mundlos S.
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease.
Am J Hum Genet: - -. 2008

Raz R., Stricker S., Gazzerro E., Clor J.L., Witte F., Nistala H., Zabski S., Pereira R.C., Stadmeyer L., Wang X., Gowen L., Sleeman M.W., Yancopoulos G.D., Canalis E., Mundlos S., Valenzuela D.M. & Economides A.N.
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: 135(9) 1713-23. 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.
Dev Dynam: 237(2) 339-53. 2008

Rajab A., Kornak U., Budde B.S., Hoffmann K., Jaeken J., Nürnberg P. & Mundlos S...
Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman.
Am J Med Genet A: 146(8) 965-976. 2008

Plöger F., Seemann P., Schmidt-von-Kegler M., Lehmann K., Seidel J., Kjaer K.W., Pohl J. & Mundlos S.
Brachydactyly type A2 associated with a defect in proGDF5 processing.
Hum Mol Genet: - -. 2008

Pamuk O.N., Mundlos S. & Cakir N.
Cleidocranial dysplasia in a mother and her two children.
Joint Bone Spine: - -. 2008

Newman W.G., Clayton-Smith J., Metcalfe K., Cole R., Tartaglia M., Brancati F., Morara S., Novelli A., Liu X., Siminovitch K.A., Mundlos S., Tassabehji M. & Black G.C.
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
Am J Med Genet A: - -. 2008

Neumann T.E., Allanson J., Kavamura I., Kerr B., Neri G., Noonan J., Cordeddu V., Gibson K., Tzschach A., Krüger G., Hoeltzenbein M., Goecke T.O., Kehl H.G., Albrecht B., Luczak K., Sasiadek M.M., Musante L., Laurie R., Peters H., Tartaglia M., Zenker M. & Kalscheuer V.
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
Eur J Hum Genet: - -. 2008

Najm J., Horn D., Wimplinger I., Golden J.A., Chizhikov V.V., Sudi J., Christian S.L., Ullmann R., Kuechler A., Haas C.A., Flubacher A., Charnas L.R., Uyanik G., Frank U., Klopocki E., Dobyns W.B. & Kutsche K.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nat Genet: - -. 2008

Michalk A., Stricker S., Becker J., Rupps R., Pantzar T., Miertus J., Botta G., Naretto V.G., Janetzki C., Yaqoob N., Ott C.E., Seelow D., Wieczorek D., Fiebig B., Wirth B., Hoopmann M., Walther M., Körber F., Blankenburg M., Mundlos S., Heller R. & Hoffmann K.
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Am J Hum Genet: 82(2) 464-76. 2008

Marie P., Kornak U. & Teti A.
Bone remodeling: facts and perspectives.
Arch Biochem Biophys: 473(2) 97. 2008

Manzke H., Lehmann K., Klopocki E. & Caliebe A.
Catel-Manzke syndrome: two new patients and a critical review of the literature.
Eur J Med Genet: - -. 2008

Kuss P., Villavicencio-Lorini P., Witte F., Klose J., Albrecht A.N., Seemann P., Hecht J. & Mundlos S.
Mutant Hoxd13 induces extra digits in a mouse model of synpolydactyly directly and by decreasing retinoic acid synthesis.
J Clin Invest: - -. 2008

Kornak U., Reynders E., Dimopoulou A., van Reeuwijk J., Fischer B., Rajab A., Budde B., Nürnberg P., Foulquier F., ARCL-Debré-type-Study-Group, Lefeber D., Urban Z., Gruenewald S., Annaert W., Brunner H.G., van Bokhoven H., Wevers R., Morava E., Matthijs G., Van Maldergem L. & Mundlos S.
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nat Genet: 40(1) 32-4. 2008

Kolanczyk M., Kühnisch J., Kossler N., Osswald M., Stumpp S., Thurisch B., Kornak U. & Mundlos S.
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin.
BMC Med: 6 21. 2008

Köhler S., Bauer S., Horn D. & Robinson P.N.
Walking the interactome for prioritization of candidate disease genes.
Am J Hum Genet: 82(4) 949-58. 2008

Klopocki E., Ott C.E., 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.
J Med Genet: - -. 2008

Jeong J.H., Jin J.S., Kim H.N., Kang S.M., Liu J.C., Lengner C.J., Otto F., Mundlos S., Stein J.L., van Wijnen A.J., Lian J.B., Stein G.S. & Choi J.Y.
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain.
J Cell Physiol: 217(2) 511-7. 2008

Humphrey N., Mundlos S. & Türkmen S.
Genes and quadrupedal locomotion in humans.
P Natl Acad Sci USA: 105(21) E26. 2008

Hennies H.C., Kornak U., Zhang H., Egerer J., Zhang X., Seifert W., Kühnisch J., Budde B., Nätebus M., Brancati F., Wilcox W.R., Müller D., Kaplan P.B., Rajab A., Zampino G., Fodale V., Dallapiccola B., Newman W., Metcalfe K., Clayton-Smith J., Tassabehji M., Steinmann B., Barr F.A., Nürnberg P., Wieacker P. & Mundlos S.
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nat Genet: - -. 2008

Hecht J., Stricker S., Wiecha U., Stiege A., Panopoulou G., Podsiadlowski L., Poustka A.J., Dieterich C., Ehrich S., Suvorova J., Mundlos S. & Seitz V.
Evolution of a core gene network for skeletogenesis in chordates.
PLoS Genet: 4(3) e1000025. 2008

Faivre L., Collod-Beroud G., Loeys B.L., Child A., Binquet C., Gautier E., Callewaert B., Arbustini E., Mayer K., Arslan-Kirchner M., Stheneur C., Kiotsekoglu A., Comeglio P., Narziliano N., Halliday D., Beroud C., Bonithon-Kopp C., Claustres M., Plauchu H., Robinson P.N., Ades L., De Backer J., Coucke P., Francke U., De Paepe A., Boileau C. & Jondeau G.
Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.
J Med Genet: - -. 2008

Faivre L., Collod-Beroud G., Callewaert B., Child A., Binquet C., Gautier E., Loeys B.L., Arbustini E., Mayer K., Arslan-Kirchner M., Stheneur C., Kiotsekoglou A., Comeglio P., Marziliano N., Wolf J.E., Bouchot O., Khau-Van-Kien P., Beroud C., Claustres M., Bonithon-Kopp C., Robinson P.N., Adès L., De Backer J., Coucke P., Francke U., De Paepe A., Jondeau G. & Boileau C.
Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.
Eur J Hum Genet: - -. 2008

Douzgou S., Lehmann K., Mingarelli R., Mundlos S. & Dallapiccola B.
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
Am J Med Genet A: 146A(16) 2116-21. 2008

Busche A., Klopocki E., Ullmann R., Mundlos S. & Horn D.
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures.
Eur J Med Genet: - -. 2008

Brunetti-Pierri N., Del Gaudio D., Peters H., Justino H., Ott C.E., Mundlos S. & Bacino C.A.
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
Am J Med Genet A: 146A(21) 2804-9. 2008

Beysen D., Moumné L., Veitia R., Peters H., Leroy B.P., De Paepe A. & De Baere E.
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
Hum Mol Genet: 17(13) 2030-8. 2008

Bauer S., Grossmann S., Vingron M. & Robinson P.N.
Ontologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration.
Bioinformatics: - -. 2008

2007

von Kodolitsch Y. & Robinson P.N.
Marfan syndrome: an update of genetics, medical and surgical management.
Heart: 93(6) 755-60. 2007

Uhrig S., Schlembach D., Waldispuehl-Geigl J., Schaffer W., Geigl J., Klopocki E., Mundlos S. & Speicher M.R.
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.
Am J Hum Genet: 81(4) 866-8. 2007

Trepczik B., Lienau J., Schell H., Epari D.R., Thompson M.S., Hoffmann J.E., Kadow-Romacker A., Mundlos S. & Duda G.N.
Endochondral ossification in vitro is influenced by mechanical bending.
Bone: 40(3) 597-603. 2007

Seitz V., Stiege A., Mundlos S., Lenze D., Lammert H., Clermont A., Hirsch B., Von Der Wall E., Müller H., Kirsch A., Diaz-Espada F., Uharek L., Anagnostopoulos I., Stein H. & Hummel M.
Immunoglobulin receptor evolution in follicular lymphoma and a review of literature.
Leukemia Lymphoma: 48(10) 2063-7. 2007

Schwabe G.C., Hoffmann K., Loges N.T., Birker D., Rossier C., de Santi M.M., Olbrich H., Fliegauf M., Failly M., Liebers U., Collura M., Gaedicke G., Mundlos S., Wahn U., Blouin J.L., Niggemann B., Omran H., Antonarakis S.E. & Bartoloni L.
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
Hum Mutat: - -. 2007

Meyer S., Fergusson W.D., Whetton A.D., Moreira-Leite F., Pepper S.D., Miller C., Saunders E.K., White D.J., Will A.M., Eden T., Ikeda H., Ullmann R., Tuerkmen S., Gerlach A., Klopocki E. & Tönnies H.
Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption.
Gene Chromosome Canc: 46(4) 359-72. 2007
Eur J Pediatr: - -. 2007

Lehmann K., Seemann P., Silan F., Goecke T.O., Irgang S., Kjaer K.W., Kjaergaard S., Mahoney M.J., Morlot S., Reissner C., Kerr B., Wilkie A.O. & Mundlos S.
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Am J Hum Genet: 81(2) 388-96. 2007

Kolanczyk M., Kossler N., Kühnisch J., Lavitas L., Stricker S., Wilkening U., Manjubala I., Fratzl P., Spörle R., Herrmann B.G., Parada L.F., Kornak U. & Mundlos S.
Multiple roles for neurofibromin in skeletal development and growth.
Hum Mol Genet: 16(8) 874-86. 2007

Klopocki E., Schulze H., Strauss G., Ott C.E., Hall J., Trotier F., Fleischhauer S., Greenhalgh L., Newbury-Ecob R.A., Neumann L.M., Habenicht R., Konig R., Seemanova E., Megarbane A., Ropers H.H., Ullmann R., Horn D. & Mundlos S.
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Am J Hum Genet: 80(2) 232-40. 2007

Klopocki E., Graul-Neumann L.M., Grieben U., Tönnies H., Ropers H.H., Horn D., Mundlos S. & Ullmann R.
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.
Eur J Pediatr: 167(8) 903-8. 2007

Guo G., Bauer S., Hecht J., Schulz M.H., Busche A. & Robinson P.N.
A short ultraconserved sequence drives transcription from an alternate FBN1 promoter.
Int J Biochem Cell B: - -. 2007

Grossmann S., Bauer S., Robinson P.N. & Vingron M.
Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis.
Bioinformatics: 23(22) 3024-31. 2007

Faivre L., Collod-Beroud G., Loeys B.L., Child A., Binquet C., Gautier E., Callewaert B., Arbustini E., Mayer K., Arslan-Kirchner M., Kiotsekoglou A., Comeglio P., Marziliano N., Dietz H.C., Halliday D., Beroud C., Bonithon-Kopp C., Claustres M., Muti C., Plauchu H., Robinson P.N., Ades L.C., Biggin A., Benetts B., Brett M., Holman K.J., De Backer J., Coucke P., Francke U., De Paepe A., Jondeau G. & Boileau C.
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.
Am J Hum Genet: 81(3) 454-66. 2007

Castori M., Brancati F., Mingarelli R., Mundlos S. & Dallapiccola B.
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B.
Am J Med Genet A: 143(2) 195-9. 2007

Abo-Dalo B., Kim H.G., Roes M., Stefanova M., Higgins A., Shen Y., Mundlos S., Quade B.J., Gusella J.F. & Kutsche K.
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
Am J Med Genet A: 143(22) 2668-74. 2007

2006

Robinson PN, Arteaga-Solis E, Baldock C, Collod-Beroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, Reinhardt DP, Tiedemann K, Whiteman P, Godfrey M.
The molecular genetics of Marfan syndrome and related disorders.
J Med Genet. 2006 Mar 29

Alt B, Elsalini OA, Schrumpf P, Haufs N, Lawson ND, Schwabe GC, Mundlos S, Gruters A, Krude H, Rohr KB.
Arteries define the position of the thyroid gland during its developmental relocalisation.
Development. 2006 Oct;133(19):3797-804

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.
Eur J Hum Genet. 2006 Sep 6

Muller D, Klopocki E, Neumann LM, Mundlos S, Taupitz M, Schulze I, Ropers HH, Querfeld U, Ullmann R.
A complex phenotype with cystic renal disease.
Kidney Int. 2006 Aug 16

Klopocki E, Neumann LM, Tonnies H, Ropers HH, Mundlos S, Ullmann R.
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Eur J Hum Genet. 2006 Aug 9

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 Expr Patterns. 2006 Jun 6

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.
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann Syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Am J Hum Genet. 2006 Aug;79(2):402-8.

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. 2006 Jul 5;7(1):172

Stricker S, Brieske N, Haupt J, Mundlos S.
Comparative expression pattern of Odd-skipped related genes Osr1 and Osr2 in chick embryonic development.
Gene Expr Patterns. 2006 Mar 20

Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D.
GDF5 is a second locus for multiple-synostosis syndrome.
Am J Hum Genet. 2006 Apr;78(4):708-12.

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 Lett. 2006 Jan 23;580(2):455-62.

Turkmen S, Demirhan O, Hoffmann K, Diers A, Zimmer C, Sperling K, Mundlos S.
Cerebellar hypoplasia and quadrupedal locomotion in humans as a recessive trait mapping to chromosome 17p.
J Med Genet. 2006 May;43(5):461-4.

2005

Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger 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.
J Clin Invest. 2005 Sep;115(9):2373-81.

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.
J Med Genet. 2006 Mar;43(3):225-31.

Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer K, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM.
Breakpoints around the HOXD cluster result in various limb malformations.
J Med Genet. 2006 Feb;43(2):111-8.

Albrecht A, Mundlos S.
The other trinucleotide repeat: polyalanine expansion disorders.
Curr Opin Genet Dev. 2005 Jun;15(3):285-93. Review.

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.
J Clin Invest. 2005 Apr;115(4):900-9.

Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K.
A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies.
J Med Genet. 2005 Apr;42(4):314-7.

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 Cells. 2004 Dec;9(12):1227-38.

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.
Hum Mol Genet. 2004 Nov 15;13(22):2841-51.

Albrecht AN, Kornak U, Boddrich A, Suring K, Robinson PN, Stiege AC, Lurz R, Stricker S, Wanker EE, Mundlos S.
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions.
Hum Mol Genet. 2004 Oct 15;13(20):2351-9.

Robinson PN, Bohme U, Lopez R, Mundlos S, Nurnberg P.
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.
Hum Mol Genet. 2004 Sep 1;13(17):1969-78.

Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Hohne W, Ritter H, Leschik G, Nurnberg P, Mundlos S.
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60.

Schwabe GC, Mundlos S.
Genetics of congenital hand anomalies.
Handchir Mikrochir Plast Chir. 2004 Apr-Jun;36(2-3):85-97. Review.

Schwabe GC, Trepczik B, Suring 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.
Dev Dyn. 2004 Feb;229(2):400-10.

Schwabe GC, Turkmen S, Leschik G, Palanduz S, Stover B, Goecke TO, Mundlos S.
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
Am J Med Genet A. 2004 Feb 1;124(4):356-63.

2003

Lehmann K, Seemann P, Stricker S, Sammar M, Meyer B, Suring K, Majewski F, Tinschert S, Grzeschik KH, Muller D, Knaus P, Nurnberg P, Mundlos S.
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.
Proc Natl Acad Sci U S A. 2003 Oct 14;100(21):12277-82.

Kornak U, Mundlos S.
Genetic disorders of the skeleton: a developmental approach.
Am J Hum Genet. 2003 Sep;73(3):447-74. Epub 2003 Jul 31. Review.

Oishi I, Suzuki H, Onishi N, Takada R, Kani S, Ohkawara B, Koshida I, Suzuki K, Yamada G, Schwabe GC, Mundlos S, Shibuya H, Takada S, Minami Y.
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway.
Genes Cells. 2003 Jul;8(7):645-54.

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.
Dev Comp Immunol. 2003 Sep;27(8):673-84.

Stock M, Schafer H, Stricker S, Gross G, Mundlos S, Otto F.
Expression of galectin-3 in skeletal tissues is controlled by Runx2.
J Biol Chem. 2003 May 9;278(19):17360-7.

2002

Stricker S, Fundele R, Vortkamp A, Mundlos S.
Role of Runx genes in chondrocyte differentiation.
Dev Biol. 2002 May 1;245(1):95-108.

Otto F, Kanegane H, Mundlos S.
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Hum Mutat. 2002 Mar;19(3):209-16. Review.

Albrecht AN, Schwabe GC, Stricker S, Boddrich A, Wanker EE, Mundlos S.
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements.
Mech Dev. 2002 Mar;112(1-2):53-67.

2001 and older

Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S.
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nat Genet. 2001 May;28(1):37-41.

Mundlos S.
Defects of human skeletogenesis--models and mechanisms.
Novartis Found Symp. 2001;232:81-91; discussion 91-101. Review.

Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S.
Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B.
Am J Hum Genet. 2000 Oct;67(4):822-31.

Mundlos S.
Skeletal morphogenesis.
Methods Mol Biol. 2000;136:61-70. Review.

Mundlos S.
Cleidocranial dysplasia: clinical and molecular genetics.
J Med Genet. 1999 Mar;36(3):177-82. Review.

Kim IS, Otto F, Zabel B, Mundlos S.
Regulation of chondrocyte differentiation by Cbfa1.
Mech Dev. 1999 Feb;80(2):159-70.

Huang LF, Fukai N, Selby PB, Olsen BR, Mundlos S.
Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice.
Dev Dyn. 1997 Sep;210(1):33-40.

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.
Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7458-63.

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. 1997 May 30;89(5):773-9.

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. 1997 May 30;89(5):765-71.