Flöttmann R - Search Results

1

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

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, Kornak U, Flöttmann R, Ardeshirdavani A, Moreau Y, Lewis SE, Haendel M, Smedley D, Horn D, Mundlos S, Robinson PN. Zemojtel T, et al. Among authors: flottmann r. Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262. Sci Transl Med. 2014. PMID: 25186178 Free PMC article.

2

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Flöttmann R, Knaus A, Zemojtel T, Robinson PN, Mundlos S, Horn D, Spielmann M. Flöttmann R, et al. Eur J Med Genet. 2015 Aug;58(8):376-80. doi: 10.1016/j.ejmg.2015.05.007. Epub 2015 Jun 19. Eur J Med Genet. 2015. PMID: 26096994

3

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. Flöttmann R, et al. Eur J Hum Genet. 2016 Aug;24(8):1132-6. doi: 10.1038/ejhg.2015.266. Epub 2016 Jan 6. Eur J Hum Genet. 2016. PMID: 26733284 Free PMC article.

4

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. Al-Bughaili M, et al. Among authors: flottmann r. J Hum Genet. 2017 Feb;62(2):325-328. doi: 10.1038/jhg.2016.111. Epub 2016 Sep 8. J Hum Genet. 2017. PMID: 27604556

5

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. Afzal M, et al. Among authors: flottmann r. Eur J Med Genet. 2017 Aug;60(8):421-425. doi: 10.1016/j.ejmg.2017.05.004. Epub 2017 May 27. Eur J Med Genet. 2017. PMID: 28559208

6

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. Spielmann M, et al. Among authors: flottmann r. Genome Res. 2016 Feb;26(2):183-91. doi: 10.1101/gr.199430.115. Epub 2016 Jan 11. Genome Res. 2016. PMID: 26755636 Free PMC article.

7

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. Spielmann M, et al. Among authors: flottmann r. Am J Med Genet A. 2016 May;170A(5):1202-7. doi: 10.1002/ajmg.a.37560. Epub 2016 Jan 29. Am J Med Genet A. 2016. PMID: 26822876

8

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.

Danyel M, Cheng Z, Jung C, Boschann F, Pantel JT, Hajjir N, Flöttmann R, Schulz S, Demuth I, Sheridan E, Mundlos S, Horn D, Mensah MA. Danyel M, et al. Among authors: flottmann r. Eur J Hum Genet. 2019 Dec;27(12):1827-1835. doi: 10.1038/s41431-019-0469-3. Epub 2019 Jul 18. Eur J Hum Genet. 2019. PMID: 31320746 Free PMC article.

9

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. Türkmen S, et al. Among authors: flottmann r. Mol Syndromol. 2017 Nov;8(6):318-324. doi: 10.1159/000479721. Epub 2017 Sep 8. Mol Syndromol. 2017. PMID: 29230162 Free PMC article.

10

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. Flöttmann R, et al. Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29236091 Free article.

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