H
Heidi L. Schulz
Researcher at University of Regensburg
Publications - 13
Citations - 793
Heidi L. Schulz is an academic researcher from University of Regensburg. The author has contributed to research in topics: Gene & Exon. The author has an hindex of 11, co-authored 12 publications receiving 701 citations. Previous affiliations of Heidi L. Schulz include University of Würzburg.
Papers
More filters
Journal ArticleDOI
Meta-analysis of genome scans of age-related macular degeneration
Sheila A. Fisher,Gonçalo R. Abecasis,Beverly M. Yashar,Sepideh Zareparsi,Anand Swaroop,Sudha K. Iyengar,Barbara E.K. Klein,Ronald Klein,Kristine E. Lee,Jacek Majewski,Dennis W. Schultz,Michael L. Klein,Johanna M. Seddon,Susan L. Santangelo,Daniel E. Weeks,Yvette P. Conley,Tammy S. Mah,Silke Schmidt,Jonathan L. Haines,Margaret A. Pericak-Vance,Michael B. Gorin,Heidi L. Schulz,Fabio Pardi,Cathryn M. Lewis,Bernhard H. F. Weber,Bernhard H. F. Weber +25 more
TL;DR: A meta- analysis of six AMD genome screens is performed using the genome-scan meta-analysis method, which allows linkage results from several studies to be combined, providing greater power to identify regions that show only weak evidence for linkage in individual studies.
Journal ArticleDOI
TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.
Heidi Stöhr,Julia Heisig,Peter M. Benz,Simon Schöberl,Vladimir M. Milenkovic,Olaf Strauss,Wendy M. Aartsen,Jan Wijnholds,Bernhard H. F. Weber,Heidi L. Schulz +9 more
TL;DR: The compartmentalized localization and the electrophysiological properties suggest TMEM16B to be a strong candidate for the long sought-after Ca2+-dependent chloride channel in the photoreceptor synapse.
Journal ArticleDOI
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Heidi L. Schulz,Felix Grassmann,Ulrich Kellner,Georg Spital,Klaus Rüther,Herbert Jägle,Karsten Hufendiek,Philipp Rating,Cord Huchzermeyer,Maria J. Baier,Bernhard H. F. Weber,Heidi Stöhr +11 more
TL;DR: A comprehensive sequence analysis in a large cohort of German STGD1 patients demonstrates a possible modifying effect of common sequence variants on ABCA4-associated disease and adds to the mutational spectrum of the ABCA 4 gene.
Journal ArticleDOI
The Retinome – Defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium
TL;DR: The genome wide retinome map offers a rational basis for selecting suggestive candidate genes for hereditary as well as complex retinal diseases facilitating elaborate studies into normal and pathological pathways.
Journal ArticleDOI
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Felix Grassmann,Ulrike Friedrich,Sascha Fauser,Tina Schick,Andrea Milenkovic,Heidi L. Schulz,Claudia N von Strachwitz,Thomas Bettecken,Peter Lichtner,Thomas Meitinger,Nicole Arend,Armin Wolf,Christos Haritoglou,G. Rudolph,Usha Chakravarthy,Giuliana Silvestri,Gareth J. McKay,Sandra Freitag-Wolf,Michael Krawczak,R. Theodore Smith,R. Theodore Smith,John C. Merriam,Joanna E. Merriam,Rando Allikmets,Iris M. Heid,Bernhard H. F. Weber +25 more
TL;DR: It is shown that the risk haplotype correlates with a reduced retinal transcript level of two, less frequent, non-canonical DAPL1 isoforms, suggesting a possible novel pathway in AMD pathogenesis.