Simon von Ameln

发表

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Peter Nürnberg, Ivan Dikic, Melanie Bahlo, 2014, Nature Genetics.

Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism

B. Lorenz, P. Nürnberg, J. Altmüller, 2021, Human Genetics.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

S. Leal, D. Stephan, M. Schiller, 2011, American journal of human genetics.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

M. Teitell, R. Goodyear, G. Richardson, 2012, American journal of human genetics.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

J. Veltman, H. Kremer, Majida Charif, 2010, American Journal of Human Genetics.

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

S. Robertson, M. Gray, M. Breuning, 2011, American journal of human genetics.

A genomic exploration identifies mechanisms that may explain adverse cardiovascular effects of COX-2 inhibitors

V. Salomaa, M. Laakso, N. Samani, 2017, Scientific Reports.

Functional Characterization of the GUCY1A3 Coronary Artery Disease Risk Locus

J. Björkegren, J. Erdmann, H. Schunkert, 2017, Circulation.

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss.

M. Teitell, R. Goodyear, G. Richardson, 2012, American journal of human genetics.