Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

M. Preising · SciRah

Researcher profile · Semantic Scholar

M. Preising

Share profile

M. Preising — researcher profile on SciRah

h-index: 29
Works: 126
Citations: 3,018

Most-cited papers

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
I. Audo, S. Kohl, B. Leroy, F. Munier +26 more
2009American Journal of Human Genetics244 citations Open access
Semantic Scholar
Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies
T. Eisenberger, Christine Neuhaus, Arif O. Khan, C. Decker +32 more
2013PLoS ONE237 citations Open access
Semantic Scholar
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
I. Audo, K. Bujakowska, Elise Orhan, C. Poloschek +48 more
2012American Journal of Human Genetics131 citations Open access
Semantic Scholar
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene
D. Chung, Mette Bertelsen, B. Lorenz, M. Pennesi +18 more
2018American journal of ophthalmology-glaucoma109 citations Open access
Semantic Scholar
Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy
B. Wabbels, M. Preising, U. Kretschmann, A. Demmler +1 more
2006Graefe's Archive for Clinical and Experimental Ophthalmology92 citations
Semantic Scholar
Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations
K. Paunescu, B. Wabbels, M. Preising, B. Lorenz
2005Graefe's Archive for Clinical and Experimental Ophthalmology91 citations
Semantic Scholar
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark
G. Astuti, Mette Bertelsen, M. Preising, M. Ajmal +6 more
2015European Journal of Human Genetics86 citations Open access
Semantic Scholar
Fundus albipunctatus associated with compound heterozygous mutations in RPE65.
Patrik Schatz, M. Preising, B. Lorenz, B. Sander +2 more
2011Ophthalmology (Rochester, Minn.)85 citations Open access
Semantic Scholar
A novel RPE65 hypomorph expands the clinical phenotype of RPE65 mutations. A comprehensive clinical and biochemical functional study
B. Lorenz, E. Poliakov, Maria Schambeck, C. Friedburg +2 more
2008Investigative Ophthalmology and Visual Science83 citations Open access
Semantic Scholar
Fundus autofluorescence in children and teenagers with hereditary retinal diseases
B. Wabbels, Anke Demmler, K. Paunescu, E. Wegscheider +2 more
2005Graefe's Archive for Clinical and Experimental Ophthalmology78 citations Open access
Semantic Scholar
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
A. Renner, U. Kellner, E. Cropp, M. Preising +4 more
2006Ophthalmology (Rochester, Minn.)75 citations
Semantic Scholar
Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome
Christine Neuhaus, T. Eisenberger, C. Decker, Sandra Nagl +24 more
2017Molecular Genetics & Genomic Medicine69 citations Open access
Semantic Scholar
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism
M. Preising, H. Forster, M. Gonser, B. Lorenz
2011Molecular Vision61 citations
Semantic Scholar
Chromatic pupillometry dissects function of the three different light-sensitive retinal cell populations in RPE65 deficiency.
B. Lorenz, Elisabeth Strohmayr, Steffen Zahn, C. Friedburg +3 more
2012Investigative Ophthalmology and Visual Science60 citations Open access
Semantic Scholar
Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.
M. Preising, E. Wegscheider, C. Friedburg, C. Poloschek +2 more
2009Ophthalmology (Rochester, Minn.)60 citations
Semantic Scholar
Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data
E. Wegscheider, M. Preising, B. Lorenz
2004Graefe's Archive for Clinical and Experimental Ophthalmology59 citations
Semantic Scholar
Optical Coherence Tomography (OCT) Device Independent Intraretinal Layer Segmentation.
Alexander Ehnes, Y. Wenner, C. Friedburg, M. Preising +5 more
2014Translational Vision Science & Technology50 citations Open access
Semantic Scholar
LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5
Patrik Schatz, M. Preising, B. Lorenz, B. Sander +3 more
2010Retina40 citations
Semantic Scholar
Automated segmentation of retinal blood vessels in spectral domain optical coherence tomography scans
Matthäus Pilch, Y. Wenner, Elisabeth Strohmayr, M. Preising +4 more
2012Biomedical Optics Express39 citations Open access
Semantic Scholar
Expression of the diabetes risk gene wolframin (WFS1) in the human retina
R. Schmidt-Kastner, P. Kreczmański, M. Preising, R. Diederen +4 more
2009Experimental Eye Research38 citations Open access
Semantic Scholar
Automated segmentation of pathological cavities in optical coherence tomography scans.
Matthäus Pilch, K. Stieger, Y. Wenner, M. Preising +3 more
2013Investigative Ophthalmology and Visual Science37 citations Open access
Semantic Scholar
Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
M. Preising, N. Hausotter-Will, M. C. Solbach, C. Friedburg +2 more
2012Investigative Ophthalmology and Visual Science31 citations Open access
Semantic Scholar
Ocular morphology and function in juvenile neuronal ceroid lipofuscinosis (CLN3) in the first decade of life
M. Preising, Michaela Abura, M. Jäger, K. Wassill +1 more
2017Ophthalmic Genetics28 citations
Semantic Scholar
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
S. Michalakis, L. Shaltiel, V. Sothilingam, Susanne F. Koch +17 more
2014Human Molecular Genetics28 citations Open access
Semantic Scholar
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.
K. Paunescu, M. Preising, B. Janke, B. Wissinger +1 more
2007Ophthalmology (Rochester, Minn.)28 citations
Semantic Scholar
In vivo assessment of retinal vascular wall dimensions.
M. Fischer, G. Huber, Yu-Xi Feng, N. Tanimoto +8 more
2010Investigative Ophthalmology and Visual Science26 citations
Semantic Scholar
Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa
R. Schmidt-Kastner, Hideo Yamamoto, D. Hamasaki, Hiroko Yamamoto +5 more
2008Molecular Vision26 citations
Semantic Scholar
Bestrophin 1 – Phenotypes and Functional Aspects in Bestrophinopathies
Caroline Pasquay, Lu-Fei Wang, B. Lorenz, M. Preising
2015Ophthalmic Genetics24 citations Open access
Semantic Scholar
Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.
Dyon Valkenburg, C. van Cauwenbergh, B. Lorenz, M. V. van Genderen +13 more
2018Investigative Ophthalmology and Visual Science22 citations Open access
Semantic Scholar
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
S. Michalakis, L. Shaltiel, V. Sothilingam, Susanne F. Koch +17 more
2017Human Molecular Genetics22 citations Open access
Semantic Scholar
Expansion of ocular phenotypic features associated with mutations in ADAMTS18.
A. Chandra, G. Arno, K. Williamson, P. Sergouniotis +10 more
2014JAMA ophthalmology19 citations Open access
Semantic Scholar
Normative values of peripheral retinal thickness measured with Spectralis OCT in healthy young adults
Y. Wenner, S. Wismann, M. Preising, M. Jäger +2 more
2014Graefe's Archive for Clinical and Experimental Ophthalmology19 citations
Semantic Scholar
Clinical utility gene card for: Oculocutaneous albinism
K. Grønskov, K. Bröndum-Nielsen, B. Lorenz, M. Preising
2014European Journal of Human Genetics19 citations Open access
Semantic Scholar
Biallelic mutations in l-dopachrome tautomerase (DCT) cause infantile nystagmus and oculocutaneous albinism
A. Volk, A. Hedergott, M. Preising, Sebastian Rading +9 more
2021Human Genetics17 citations
Semantic Scholar
Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children
Mette Bertelsen, H. Jensen, M. Larsen, B. Lorenz +2 more
2013Ophthalmic Epidemiology17 citations
Semantic Scholar
Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.
M. Preising, H. Forster, H. Tan, B. Lorenz +2 more
2007Molecular Vision17 citations
Semantic Scholar
Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism.
M. Hoffmann, B. Lorenz, M. Preising, Petra S. Seufert
2006Investigative Ophthalmology and Visual Science17 citations
Semantic Scholar
Autosomal Recessive Bestrophinopathy: New Observations on the Retinal Phenotype – Clinical and Molecular Report of an Italian Family
S. Guerriero, M. Preising, N. Ciccolella, F. Causio +2 more
2011Ophthalmologica16 citations
Semantic Scholar
[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].
M. Preising, K. Paunescu, C. Friedburg, Birgit Lorenz
2007Der Ophthalmologe16 citations
Semantic Scholar
Predominant rod photoreceptor degeneration in Leber congenital amaurosis.
J. van der Spuy, Peter M. G. Munro, P. Luthert, M. Preising +3 more
2005Molecular Vision16 citations
Semantic Scholar
Age matters—thoughts on a grading system for ABCA4 mutations
B. Lorenz, M. Preising
2005Graefe's Archive for Clinical and Experimental Ophthalmology15 citations
Semantic Scholar
Retinal blinding disorders and gene therapy--molecular and clinical aspects.
B. Lorenz, M. Preising, K. Stieger
2010Current Gene Therapy14 citations
Semantic Scholar
[Best's disease. Overview of pathology and its causes].
B. Lorenz, M. Preising
2005Der Ophthalmologe14 citations
Semantic Scholar
Shared Decision-Making, Control Preferences and Psychological Well-Being in Patients with RPE65 Deficiency Awaiting Experimental Gene Therapy
Monika Nelles, K. Stieger, M. Preising, J. Kruse +1 more
2015Ophthalmic Research13 citations
Semantic Scholar
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
B. Wissinger, Britta Baumann, Elena Buena-Atienza, Z. Ravesh +27 more
2022Proceedings of the National Academy of Sciences of the United States of America12 citations Open access
Semantic Scholar
Splitting of the lateral rectus muscle with medial transposition to treat oculomotor palsy: a retrospective analysis of 29 consecutive cases
Sotirios Basiakos, Michael Gräf, M. Preising, B. Lorenz
2019Graefe's Archive for Clinical and Experimental Ophthalmology12 citations
Semantic Scholar
Überblick über die kongenitale stationäre Nachtblindheit mit überwiegend normalem Fundus
C. Zeitz, C. Friedburg, M. Preising, B. Lorenz
2018Klinische Monatsblätter für Augenheilkunde7 citations
Semantic Scholar
Das phänotypische Spektrum der Augenveränderungen bei CEP290-Sequenzvariationen
M. Preising, U. Schneider, C. Friedburg, H. Gruber +2 more
2019Klinische Monatsblätter für Augenheilkunde5 citations
Semantic Scholar
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials
B. Lorenz, E. Wegscheider, C. Hamel, M. Preising +1 more
2017Ophthalmic Research5 citations
Semantic Scholar
Albinimus und das Spektrum der Fundushypo-pigmentierung , der Makulahypoplasie und des Nystagmus Albinism and the Range of Fundus Hypopigmentation , Macular Hypoplasia , and Nystagmus
M. Preising, B. Lorenz
20164 citations
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

B. Lorenz×45
Invite
B. Lorenz — researcher profile on SciRah
C. Friedburg×14
Invite
C. Friedburg — researcher profile on SciRah
K. Stieger×8
Invite
K. Stieger — researcher profile on SciRah
I. Audo×5
Invite
I. Audo — researcher profile on SciRah

×5

Invite

C. Hamel — researcher profile on SciRah

Invite

C. Zeitz — researcher profile on SciRah

T. Rosenberg×5

Invite

T. Rosenberg — researcher profile on SciRah

Invite

U. Kellner — researcher profile on SciRah

Marie-Elise Lancelot×4

Invite

Marie-Elise Lancelot — researcher profile on SciRah

Mette Bertelsen×4

Invite

Mette Bertelsen — researcher profile on SciRah

Invite

M. Larsen — researcher profile on SciRah

Invite

B. Wabbels — researcher profile on SciRah