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Items: 15

1.

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.

Eur J Hum Genet. 2019 Jul 18. doi: 10.1038/s41431-019-0469-3. [Epub ahead of print]

PMID:
31320746
2.

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
3.

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.

4.

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
5.

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
6.

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Enriquez A, Krivanek M, Flöttmann R, Peters H, Wilson M.

Am J Med Genet A. 2016 Sep;170(9):2372-6. doi: 10.1002/ajmg.a.37816. Epub 2016 Jun 28. Review.

PMID:
27351625
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.

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

PMID:
26822876
8.

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.

9.

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.

10.

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.

Eur J Med Genet. 2015 Aug;58(8):376-80. doi: 10.1016/j.ejmg.2015.05.007. Epub 2015 Jun 19.

PMID:
26096994
11.

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M.

J Med Genet. 2015 Jul;52(7):476-83. doi: 10.1136/jmedgenet-2015-103108. Epub 2015 Jun 1.

PMID:
26032025
12.

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.

Tayebi N, Jamsheer A, Flöttmann R, Sowinska-Seidler A, Doelken SC, Oehl-Jaschkowitz B, Hülsemann W, Habenicht R, Klopocki E, Mundlos S, Spielmann M.

Orphanet J Rare Dis. 2014 Jul 29;9:108. doi: 10.1186/s13023-014-0108-6.

13.

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.

Sci Transl Med. 2014 Sep 3;6(252):252ra123. doi: 10.1126/scitranslmed.3009262.

14.

Microduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome.

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.

Clin Genet. 2014 Oct;86(4):318-25. doi: 10.1111/cge.12352. Epub 2014 Feb 17.

PMID:
24456159
15.

Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.

Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R; German Consortium for Hereditary Breast and Ovarian Cancer.

J Med Genet. 2013 Jun;50(6):360-7. doi: 10.1136/jmedgenet-2012-101415. Epub 2013 Apr 6.

PMID:
23564750

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