Wollnik, Bernd

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

Antzelevitch, C., Pollevick, G. D., Cordeiro, J. M., Casis, O., Sanguinetti, M. C., Aizawa, Y., Guerchicoff, A., Pfeiffer, R., Oliva, A., Wollnik, B., et al. (2007) · Circulation

Cardiac electrophysiology and arrhythmiasIon channel regulation and function

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Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M. J., Breuning, M. H., et al. (2011) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsBone Metabolism and Diseases

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Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

Garbes, L., Kim, K., Rieß, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M. J., Huh, Y. H., Kweon, H.-S., Savarirayan, R., et al. (2015) · The American Journal of Human Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

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LRP4 mutations alter Wnt/β-catenin signaling and cause limb and kidney malformations in Cenani–Lenz syndrome

Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nürnberg, G., Cenani, A., et al. (2010) · The American Journal of Human Genetics

Congenital limb and hand anomaliesWnt/β-catenin signaling in development and cancer

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Lrp4 regulates initiation of ureteric budding and is crucial for kidney formation – a mouse model for Cenani–Lenz syndrome

Karner, C. M., Dietrich, M. F., Johnson, E. B., Kappesser, N., Tennert, C., Percin, F., Wollnik, B., Carroll, T. J., & Herz, J. (2010) · PLoS ONE

Renal and related cancersDevelopmental Biology and Gene Regulation

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Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

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