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Publications

Conduct and Quality Control of Differential Gene Expression Analysis Using High-Throughput Transcriptome Sequencing (RNASeq)
Grassmann F
Methods in molecular biology (Clifton, N.J.) 2019;1834():29-43

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
Sangermano R, Garanto A, Khan M, Runhart Eh, Bauwens M, Bax Nm, et al
Genetics in medicine : official journal of the American College of Medical Genetics 2019;():-

Spectral Domain Optical Coherence Tomography Allows the Unification of Clinical Decision Making for the Evaluation of Choroidal Neovascularization Activity
Volz C, Grassmann F, Greslechner R, Marker Da, Peters P, Helbig H, et al
OPHTHALMOLOGICA 2019;241(1):32-37

Y chromosome mosaicism is associated with age-related macular degeneration
International Age-related Macular Degeneration Genomics Consortium (iamdgc), Grassmann F, Kiel C, Den Hollander Ai, Weeks De, Lotery A, et al
European journal of human genetics : EJHG 2019;27(1):36-41

A Deep Learning Algorithm for Prediction of Age-Related Eye Disease Study Severity Scale for Age-Related Macular Degeneration from Color Fundus Photography
Grassmann F, Mengelkamp J, Brandl C, Harsch S, Zimmermann Me, Linkohr B, et al
OPHTHALMOLOGY 2018;125(9):1410-1420

A mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver
Strunz T, Grassmann F, Gayan J, Nahkuri S, Souza-costa D, Maugeais C, et al
SCIENTIFIC REPORTS 2018;:5865-

Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration
Pujol-lereis Lm, Liebisch G, Schick T, Lin Y, Grassmann F, Uchida K, et al
PloS one 2018;13(8):e0200739-

Investigating the modulation of genetic effects on late AMD by age and sex: Lessons learned and two additional loci
International Age-related Macular Degeneration Genomics Consortium (iamdgc), Winkler Tw, Brandl C, Grassmann F, Gorski M, Stark K, et al
PloS one 2018;13(3):e0194321-

Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases
Kiel C, Weber Bhf, Grassmann F, Ash Jd, Anderson Re, Lavail Mm, et al
RETINAL DEGENERATIVE DISEASES: MECHANISMS AND EXPERIMENTAL THERAPY 2018;:247-255

Recurrent structural variation, clustered sites of selection, and disease risk for the complement factor H (CFH) gene family
Cantsilieris S, Nelson Bj, Huddleston J, Baker C, Harshman L, Penewit K, et al
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 2018;115(19):E4433-E4442

Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator
Micklisch S, Lin Y, Jacob S, Karlstetter M, Dannhausen K, Dasari P, et al
Journal of neuroinflammation 2017;14(1):4-

An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology
Berber P, Grassmann F, Kiel C, Weber Bh
Molecular diagnosis & therapy 2017;21(1):31-43

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
International Amd Genomics Consortium (iamdgc), Grassmann F, Kiel C, Zimmermann Me, Gorski M, Grassmann V, et al
Genome medicine 2017;9(1):29-

Genetic risks and therapy development in retinal degeneration
Grassmann F, Weber B
MEDIZINISCHE GENETIK 2017;29(2):195-201

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
Schulz Hl, Grassmann F, Kellner U, Spital G, Rüther K, Jägle H, et al
Investigative ophthalmology & visual science 2017;58(1):394-403

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration
International Amd Genomics Consortium (iamdgc), Grassmann F, Heid Im, Weber Bh
Genetics 2017;205(2):919-924

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Fritsche Lg, Igl W, Bailey Jn, Grassmann F, Sengupta S, Bragg-gresham Jl, et al
Nature genetics 2016;48(2):134-43

Distinct Genetic Risk Profile of the Rapidly Progressing Diffuse-Trickling Subtype of Geographic Atrophy in Age-Related Macular Degeneration (AMD)
Fleckenstein M, Grassmann F, Lindner M, Pfau M, Czauderna J, Strunz T, et al
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 2016;57(6):2463-71

Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study
Brandl C, Breinlich V, Stark Kj, Enzinger S, Aßenmacher M, Olden M, et al
PloS one 2016;11(11):e0167181-

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
Grassmann F, Cantsilieris S, Schulz-kuhnt As, White Sj, Richardson Aj, Hewitt Aw, et al
JOURNAL OF NEUROINFLAMMATION 2016;:81-

A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)
Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz Hl, et al
Neuromolecular medicine 2015;17(2):111-20

Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration
Grassmann F, Fleckenstein M, Chew Ey, Strunz T, Schmitz-valckenberg S, Göbel Ap, et al
PloS one 2015;10(5):e0126636-

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)
Grassmann F, Bergholz R, Mändl J, Jägle H, Ruether K, Weber Bh
BMC ophthalmology 2015;15():18-

Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-beta signaling
Friedrich U, Datta S, Schubert T, Plossl K, Schneider M, Grassmann F, et al
HUMAN MOLECULAR GENETICS 2015;24(22):6361-73

Tapping Stem Cells to Target AMD: Challenges and Prospects
Brandl C, Grassmann F, Riolfi J, Weber Bh
Journal of clinical medicine 2015;4(2):282-303

The genetics of age-related macular degeneration (AMD) - Novel targets for designing treatment options?
Grassmann F, Fauser S, Weber Bhf
EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS 2015;:194-202

What Does Genetics Tell Us About Age-Related Macular Degeneration?
Grassmann F, Ach T, Brandl C, Heid Im, Weber Bhf
Annual review of vision science 2015;1():73-96

A circulating microrna profile is associated with late-stage neovascular age-related macular degeneration
Grassmann F, Schoenberger Pg, Brandl C, Schick T, Hasler D, Meister G, et al
PloS one 2014;9(9):e107461-

Genetic risk models in age-related macular degeneration
Grassmann F, Heid Im, Weber Bh
Advances in experimental medicine and biology 2014;801():291-300

In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC)
Brandl C, Zimmermann Sj, Milenkovic Vm, Rosendahl Sm, Grassmann F, Milenkovic A, et al
Neuromolecular medicine 2014;16(3):551-64

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration
Ratnapriya R, Zhan X, Fariss Rn, Branham Ke, Zipprer D, Chakarova Cf, et al
Human molecular genetics 2014;23(21):5827-37

The role of the complement system in age-related macular degeneration
Weber Bh, Charbel Issa P, Pauly D, Herrmann P, Grassmann F, Holz Fg
Deutsches Arzteblatt international 2014;111(8):133-8

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration
Zhan X, Larson De, Wang C, Koboldt Dc, Sergeev Yv, Fulton Rs, et al
Nature genetics 2013;45(11):1375-9

Modelling the genetic risk in age-related macular degeneration
Grassmann F, Fritsche Lg, Keilhauer Cn, Heid Im, Weber Bh
PloS one 2012;7(5):e37979-

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association
Zach F, Grassmann F, Langmann T, Sorusch N, Wolfrum U, Stohr H
HUMAN MOLECULAR GENETICS 2012;21(21):4573-86

How big are the small genetic risks?
Heid Im, Winkler Tw, Grassmann F, Weber Bhf
MEDIZINISCHE GENETIK 2011;23(3):377-384

Key2Ann: a tool to process sequence sets by replacing database identifiers with a human-readable annotation
Pürzer A, Grassmann F, Birzer D, Merkl R
Journal of integrative bioinformatics 2011;8(1):-

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Nobels väg 12A
Stockholm