Heidi Stöhr

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy

Bernhard H. F. Weber, Gudrun Vogt, Ronald C. Pruett et al. · Nature Genetics · 1994 · 665 citations

Medicine, Molecular Medicine, Molecular Pathology +7

A Comprehensive Survey of Sequence Variation in the ABCA4 (ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Andrea Rivera, Karen L. White, Heidi Stöhr et al. · The American Journal of Human Genetics · 2000 · 341 citations · Full text

Medicine, Genetics, Molecular Genetics +10

cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family

Andreas Marquardt, Heidi Stöhr, Karen L. White et al. · Genomics · 2000 · 281 citations

Life Sciences, Genetics, Molecular Genetics +17

TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals

Heidi Stöhr, Julia Heisig, P. Benz et al. · Journal of Neuroscience · 2009 · 216 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17