Author Caliebe, Almuth
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2010 | Journal Article | Research Paper
A Specific Mutation in the Distant Sonic Hedgehog (SHH) Cis-Regulator (ZRS) Causes Werner Mesomelic Syndrome (WMS) While Complete ZRS Duplications Underlie Haas Type Polysyndactyly and Preaxial Polydactyly (PPD) With or Without Triphalangeal Thumb
Wieczorek, D.; Pawlik, B.; Li, Y. ; Akarsu, N. A.; Caliebe, A.; May, K. J. W. & Schweiger, B. et al. (2010)
Human Mutation, 31(1) pp. 81-89. DOI: https://doi.org/10.1002/humu.21142
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2013 | Journal Article | Research Paper
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Wieczorek, D.; Boegershausen, N.; Beleggia, F.; Steiner-Haldenstaett, S.; Pohl, E.; Li, Y. & Milz, E. et al. (2013)
Human Molecular Genetics, 22(25) pp. 5121-5135. DOI: https://doi.org/10.1093/hmg/ddt366
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2014 | Journal Article
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome
Ehmke, N.; Caliebe, A.; Koenig, R.; Kant, S. G; Stark, Z.; Cormier-Daire, V. & Wieczorek, D. et al. (2014)
The American Journal of Human Genetics, 95(6) pp. 763-770. DOI: https://doi.org/10.1016/j.ajhg.2014.11.004
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2015 | Journal Article
Mutations in CDK5RAP2 cause Seckel syndrome
Yigit, G. ; Brown, K. E.; Kayserili, H.; Pohl, E.; Caliebe, A.; Zahnleiter, D. & Rosser, E. et al. (2015)
Molecular Genetics & Genomic Medicine, 3(5) pp. 467-480. DOI: https://doi.org/10.1002/mgg3.158
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2015 | Journal Article | Research Paper
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
Bramswig, N. C.; Luedecke, H.-J.; Alanay, Y.; Albrecht, B.; Barthelmie, A.; Boduroglu, K. & Braunholz, D. et al. (2015)
Human Genetics, 134(6) pp. 553-568. DOI: https://doi.org/10.1007/s00439-015-1535-8
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