Edyta Rohmann

Mutations in different components of FGF signaling in LADD syndrome

Edyta Rohmann, Han G. Brunner, Hülya Kayserili et al. · Nature Genetics · 2006 · 207 citations

Developmental Biology, Mendelian Disorder, Human Growth +7

Mutations in the<i>lipoma HMGIC fusion partner-like 5 (LHFPL5)</i>gene cause autosomal recessive nonsyndromic hearing loss

Ersan Kalay, Yun Li, Abdullah Üzümcü et al. · Human Mutation · 2006 · 71 citations

Mendelian Disorder, Genetic Disorder, Genetics +13

Lacrimo-Auriculo-Dento-Digital Syndrome Is Caused by Reduced Activity of the Fibroblast Growth Factor 10 (FGF10)-FGF Receptor 2 Signaling Pathway

Imad Shams, Edyta Rohmann, Veraragavan P. Eswarakumar et al. · Molecular and Cellular Biology · 2007 · 66 citations · Full text

Lacrimo-auriculo-dento-digital Syndrome Is, Developmental Biology, Signal Transduction +14

Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation

Erin D. Lew, Jae Hyun Bae, Edyta Rohmann et al. · Proceedings of the National Academy of Sciences · 2007 · 43 citations · Full text

Crystal Structure, Human Growth, Pathology +18

A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease

Stefan Pabst, Bernd Wollnik, Edyta Rohmann et al. · Clinical Research in Cardiology · 2007 · 39 citations

Cardiomyopathy, Genetics, Large Family +8