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Items: 1 to 50 of 325

1.

The single-cell transcriptional landscape of mammalian organogenesis.

Cao J, Spielmann M, Qiu X, Huang X, Ibrahim DM, Hill AJ, Zhang F, Mundlos S, Christiansen L, Steemers FJ, Trapnell C, Shendure J.

Nature. 2019 Feb;566(7745):496-502. doi: 10.1038/s41586-019-0969-x. Epub 2019 Feb 20.

PMID:
30787437
2.

Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations.

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.

Nat Cell Biol. 2019 Mar;21(3):305-310. doi: 10.1038/s41556-019-0273-x. Epub 2019 Feb 11.

PMID:
30742094
3.

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome.

Kragesteen BK, Brancati F, Digilio MC, Mundlos S, Spielmann M.

J Med Genet. 2019 Apr;56(4):246-251. doi: 10.1136/jmedgenet-2018-105793. Epub 2019 Feb 2.

PMID:
30711920
4.

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

Hansen P, Ali S, Blau H, Danis D, Hecht J, Kornak U, Lupiáñez DG, Mundlos S, Steinhaus R, Robinson PN.

BMC Genomics. 2019 Jan 14;20(1):40. doi: 10.1186/s12864-018-5376-4.

5.

Normal trabecular vertebral bone is formed via rapid transformation of mineralized spicules: A high-resolution 3D ex-vivo murine study.

Zenzes M, Bortel EL, Fratzl P, Mundlos S, Schuetz M, Schmidt H, Duda GN, Witte F, Zaslansky P.

Acta Biomater. 2019 Mar 1;86:429-440. doi: 10.1016/j.actbio.2018.12.050. Epub 2018 Dec 31.

PMID:
30605771
6.

Identifying cis Elements for Spatiotemporal Control of Mammalian DNA Replication.

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, Bruneau BG, Ljungman M, Fraser P, Ay F, Gilbert DM.

Cell. 2019 Feb 7;176(4):816-830.e18. doi: 10.1016/j.cell.2018.11.036. Epub 2018 Dec 27.

PMID:
30595451
7.

Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice.

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.

Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13021-13026. doi: 10.1073/pnas.1813520115. Epub 2018 Nov 28.

8.

Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand.

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, Kornak U, Oheim R, Amling M, Schinke T, David JP.

Sci Transl Med. 2018 Nov 7;10(466). pii: eaau7137. doi: 10.1126/scitranslmed.aau7137.

PMID:
30404864
9.

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation.

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.

Sci Rep. 2018 Oct 2;8(1):14611. doi: 10.1038/s41598-018-33066-x.

10.

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis.

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, Franke M, Lupiáñez DG, Kraft K, Timmermann B, Vingron M, Visel A, Nicodemi M, Mundlos S, Andrey G.

Nat Genet. 2018 Oct;50(10):1463-1473. doi: 10.1038/s41588-018-0221-x. Epub 2018 Sep 27.

PMID:
30262816
11.

A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.

Castori M, Ott CE, Bisceglia L, Leone MP, Mazza T, Castellana S, Tomassi J, Lanciotti S, Mundlos S, Hennekam RC, Kornak U, Brancati F.

Am J Med Genet A. 2018 Sep;176(9):2028-2033. doi: 10.1002/ajmg.a.40379. Epub 2018 Sep 8.

PMID:
30194892
12.

Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.

Rolvien T, Stürznickel J, Schmidt FN, Butscheidt S, Schmidt T, Busse B, Mundlos S, Schinke T, Kornak U, Amling M, Oheim R.

Calcif Tissue Int. 2018 Nov;103(5):512-521. doi: 10.1007/s00223-018-0447-8. Epub 2018 Jun 26.

PMID:
29946973
13.

Loss of murine Gfi1 causes neutropenia and induces osteoporosis depending on the pathogen load and systemic inflammation.

Geissler S, Textor M, Stumpp S, Seitz S, Lekaj A, Brunk S, Klaassen S, Schinke T, Klein C, Mundlos S, Kornak U, Kühnisch J.

PLoS One. 2018 Jun 7;13(6):e0198510. doi: 10.1371/journal.pone.0198510. eCollection 2018.

14.

Structural variation in the 3D genome.

Spielmann M, Lupiáñez DG, Mundlos S.

Nat Rev Genet. 2018 Jul;19(7):453-467. doi: 10.1038/s41576-018-0007-0. Review.

PMID:
29692413
15.

[Osteoimmunology-IMMUNOBONE : Regulation of bone by inflammation].

Rauner M, Buttgereit F, Distler J, Garbe AI, Herrmann M, Hofbauer L, Hoffmann M, Jessberger R, Kornak U, Krönke G, Mundlos S, Spies C, Tuckermann J, Zwerina J.

Z Rheumatol. 2018 May;77(Suppl 1):12-15. doi: 10.1007/s00393-018-0455-0. Review. German. No abstract available.

PMID:
29691689
16.

Polymer physics predicts the effects of structural variants on chromatin architecture.

Bianco S, Lupiáñez DG, Chiariello AM, Annunziatella C, Kraft K, Schöpflin R, Wittler L, Andrey G, Vingron M, Pombo A, Mundlos S, Nicodemi M.

Nat Genet. 2018 May;50(5):662-667. doi: 10.1038/s41588-018-0098-8. Epub 2018 Apr 16.

PMID:
29662163
17.

Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses.

Khayal LA, Grünhagen J, Provazník I, Mundlos S, Kornak U, Robinson PN, Ott CE.

Bone. 2018 Aug;113:29-40. doi: 10.1016/j.bone.2018.04.006. Epub 2018 Apr 11.

PMID:
29653293
18.

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism.

Pantel JT, Zhao M, Mensah MA, Hajjir N, Hsieh TC, Hanani Y, Fleischer N, Kamphans T, Mundlos S, Gurovich Y, Krawitz PM.

J Inherit Metab Dis. 2018 May;41(3):533-539. doi: 10.1007/s10545-018-0174-3. Epub 2018 Apr 5.

19.

Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2.

Butscheidt S, Delsmann A, Rolvien T, Barvencik F, Al-Bughaili M, Mundlos S, Schinke T, Amling M, Kornak U, Oheim R.

Osteoporos Int. 2018 Jul;29(7):1643-1651. doi: 10.1007/s00198-018-4499-4. Epub 2018 Mar 29.

PMID:
29594386
20.

Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia osteodysplastica.

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, Rossi A, Sugahara K, Amling M, Knaus P, Chan D, Lowe M, Mundlos S, Kornak U.

PLoS Genet. 2018 Mar 21;14(3):e1007242. doi: 10.1371/journal.pgen.1007242. eCollection 2018 Mar.

21.

Response to Peron et al.

Kragesteen BK, Duboule D, Mundlos S, Spielmann M.

Genet Med. 2018 Nov;20(11):1481-1482. doi: 10.1038/gim.2018.20. No abstract available.

PMID:
29493576
22.

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.

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, Van Maldergem L.

Am J Med Genet A. 2018 Mar;176(3):668-675. doi: 10.1002/ajmg.a.38604. Epub 2018 Jan 17. Review.

23.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

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, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.

Genome Med. 2018 Jan 9;10(1):3. doi: 10.1186/s13073-017-0510-5.

24.

Noncoding copy-number variations are associated with congenital limb malformation.

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, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M.

Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12.

PMID:
29236091
25.

A Novel de novo FZD2 Mutation in a Patient with Autosomal Dominant Omodysplasia.

Türkmen S, Spielmann M, Güneş N, Knaus A, Flöttmann R, Mundlos S, Tüysüz B.

Mol Syndromol. 2017 Nov;8(6):318-324. doi: 10.1159/000479721. Epub 2017 Sep 8.

26.

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

Schreiber I, Dörpholz G, Ott CE, Kragesteen B, Schanze N, Lee CT, Köhrle J, Mundlos S, Ruschke K, Knaus P.

Sci Rep. 2017 Dec 8;7(1):17192. doi: 10.1038/s41598-017-17595-5.

27.

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

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, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U.

Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016.

28.

The three-dimensional genome: regulating gene expression during pluripotency and development.

Andrey G, Mundlos S.

Development. 2017 Oct 15;144(20):3646-3658. doi: 10.1242/dev.148304. Review.

29.

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

Rolvien T, Kornak U, Stürznickel J, Schinke T, Amling M, Mundlos S, Oheim R.

Osteoporos Int. 2018 Jan;29(1):243-246. doi: 10.1007/s00198-017-4224-8. Epub 2017 Sep 15.

PMID:
28916840
30.

Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).

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.

Nat Genet. 2017 Oct;49(10):1539-1545. doi: 10.1038/ng.3939. Epub 2017 Aug 28.

31.

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction.

Spielmann M, Hernandez-Miranda LR, Ceccherini I, Weese-Mayer DE, Kragesteen BK, Harabula I, Krawitz P, Birchmeier C, Leonard N, Mundlos S.

J Med Genet. 2017 Nov;54(11):754-761. doi: 10.1136/jmedgenet-2017-104765. Epub 2017 Aug 4.

PMID:
28779001
32.

Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms.

Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R.

Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27.

PMID:
28559208
33.

Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF.

Jerković I, Ibrahim DM, Andrey G, Haas S, Hansen P, Janetzki C, González Navarrete I, Robinson PN, Hecht J, Mundlos S.

PLoS Genet. 2017 Jan 19;13(1):e1006567. doi: 10.1371/journal.pgen.1006567. eCollection 2017 Jan.

34.

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

Penzkofer T, Jäger M, Figlerowicz M, Badge R, Mundlos S, Robinson PN, Zemojtel T.

Nucleic Acids Res. 2017 Jan 4;45(D1):D68-D73. doi: 10.1093/nar/gkw925. Epub 2016 Oct 18.

35.

Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding.

Andrey G, Schöpflin R, Jerković I, Heinrich V, Ibrahim DM, Paliou C, Hochradel M, Timmermann B, Haas S, Vingron M, Mundlos S.

Genome Res. 2017 Feb;27(2):223-233. doi: 10.1101/gr.213066.116. Epub 2016 Dec 6.

36.

Formation of new chromatin domains determines pathogenicity of genomic duplications.

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, Zuffardi O, Houge G, Lambie L, Brancati F, Pombo A, Vingron M, Spitz F, Mundlos S.

Nature. 2016 Oct 13;538(7624):265-269. doi: 10.1038/nature19800. Epub 2016 Oct 5.

PMID:
27706140
37.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.

Al-Bughaili M, Neuhann TM, Flöttmann R, Mundlos S, Spielmann M, Kornak U, Fischer-Zirnsak B.

J Hum Genet. 2017 Feb;62(2):325-328. doi: 10.1038/jhg.2016.111. Epub 2016 Sep 8.

PMID:
27604556
38.

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

Heinrich V, Kamphans T, Mundlos S, Robinson PN, Krawitz PM.

Bioinformatics. 2017 Jan 1;33(1):72-78. doi: 10.1093/bioinformatics/btw550. Epub 2016 Aug 26.

39.

The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.

Seifert W, Posor Y, Schu P, Stenbeck G, Mundlos S, Klaassen S, Nürnberg P, Haucke V, Kornak U, Kühnisch J.

Hum Mol Genet. 2016 Sep 1;25(17):3836-3848. doi: 10.1093/hmg/ddw230. Epub 2016 Jul 27.

PMID:
27466194
40.

Looking beyond the genes: the role of non-coding variants in human disease.

Spielmann M, Mundlos S.

Hum Mol Genet. 2016 Oct 1;25(R2):R157-R165. Epub 2016 Jun 27.

PMID:
27354350
41.

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A.

Pol J Pathol. 2016 Mar;67(1):78-83.

42.

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

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, Munnich A, Murakami Y, Horn D, Krawitz PM.

Hum Mutat. 2016 Aug;37(8):737-44. doi: 10.1002/humu.23006. Epub 2016 May 19.

43.

Breaking TADs: How Alterations of Chromatin Domains Result in Disease.

Lupiáñez DG, Spielmann M, Mundlos S.

Trends Genet. 2016 Apr;32(4):225-237. doi: 10.1016/j.tig.2016.01.003. Epub 2016 Feb 7. Review.

PMID:
26862051
44.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G.

Am J Med Genet A. 2016 May;170A(5):1202-7. doi: 10.1002/ajmg.a.37560. Epub 2016 Jan 29.

PMID:
26822876
45.

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.

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.

Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22.

PMID:
26799614
46.

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice.

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, van Bokhoven H, Schwartz CE, Nürnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G.

Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11.

47.

Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.

Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M.

Eur J Hum Genet. 2016 Aug;24(8):1132-6. doi: 10.1038/ejhg.2015.266. Epub 2016 Jan 6.

48.

A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation.

Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, Mundlos S, Spielmann M.

Am J Med Genet A. 2016 Mar;170(3):615-21. doi: 10.1002/ajmg.a.37464. Epub 2015 Nov 18.

PMID:
26581570
49.

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies.

Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Bramswig NC, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M.

Hum Mutat. 2015 Nov;36(11):1112. doi: 10.1002/humu.22830. Epub 2015 Aug 7.

PMID:
26457590
50.

Nosology and classification of genetic skeletal disorders: 2015 revision.

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.

Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.

PMID:
26394607

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