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B. Wissinger · SciRah

Researcher profile · Semantic Scholar

B. Wissinger

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B. Wissinger — researcher profile on SciRah

h-index: 66
Works: 377
Citations: 17K

Most-cited papers

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma
Jessica Cooke Bailey, S. Loomis, J. Kang, R. Allingham +77 more
2016Nature Genetics245 citations Open access
Semantic Scholar
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
M. Bauwens, A. Garanto, R. Sangermano, S. Naessens +26 more
2019Genetics in Medicine148 citations Open access
Semantic Scholar
Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia
M. Fischer, S. Michalakis, B. Wilhelm, D. Zobor +22 more
2020JAMA ophthalmology144 citations Open access
Semantic Scholar
AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye.
F. Reichel, Daniyar L. Dauletbekov, R. Klein, T. Peters +9 more
2017Molecular Therapy140 citations Open access
Semantic Scholar
Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period
N. Weisschuh, C. Obermaier, F. Battke, A. Bernd +9 more
2020Human Mutation121 citations Open access
Semantic Scholar
Superior Retinal Gene Transfer and Biodistribution Profile of Subretinal Versus Intravitreal Delivery of AAV8 in Nonhuman Primates.
I. Seitz, S. Michalakis, B. Wilhelm, F. Reichel +8 more
2017Investigative Ophthalmology and Visual Science97 citations Open access
Semantic Scholar
Dominant optic atrophy: Culprit mitochondria in the optic nerve.
G. Lenaers, A. Neutzner, Y. le Dantec, Christoph Jüschke +10 more
2020Progress in retinal and eye research88 citations Open access
Semantic Scholar
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
N. Weisschuh, P. Mazzola, Theresia Zuleger, Karin Schaeferhoff +30 more
2023Journal of Medical Genetics75 citations Open access
Semantic Scholar
CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients
Anja K Mayer, Caroline Cauwenbergh, Christine Rother, Britta Baumann +4 more
2017Human Mutation65 citations
Semantic Scholar
Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy
Camille Piro-Mégy, Emmanuelle Sarzi, Aleix Tarrés-Solé, M. Péquignot +21 more
2019Journal of Clinical Investigation63 citations Open access
Semantic Scholar
Three-year results of phase I retinal gene therapy trial for CNGA3-mutated achromatopsia: results of a non randomised controlled trial
F. Reichel, S. Michalakis, B. Wilhelm, D. Zobor +18 more
2021British Journal of Ophthalmology56 citations
Semantic Scholar
The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.
D. Zobor, Annette Werner, F. Stanzial, F. Benedicenti +9 more
2017Investigative Ophthalmology and Visual Science55 citations Open access
Semantic Scholar
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1
Tobias Bonifert, I. González-Menéndez, F. Battke, Yvonne Theurer +3 more
2016Molecular Therapy: Nucleic Acids51 citations Open access
Semantic Scholar
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease
I. Boussaad, C. Obermaier, Zoé Hanss, D. Bobbili +30 more
2020Science Translational Medicine46 citations Open access
Semantic Scholar
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
N. Weisschuh, B. Feldhaus, M. A. Khan, F. Cremers +3 more
2018bioRxiv45 citations Open access
Semantic Scholar
CDHR1 mutations in retinal dystrophies
K. Stingl, Anja K Mayer, Pablo Llavona, L. Mulahasanovic +6 more
2017Scientific Reports41 citations Open access
Semantic Scholar
Spatial and temporal resolution of the photoreceptors rescue dynamics after treatment with voretigene neparvovec
K. Stingl, Melanie Kempf, K. Bartz-Schmidt, Spyridon Dimopoulos +13 more
2021British Journal of Ophthalmology40 citations Open access
Semantic Scholar
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy
Markus Burkard, S. Kohl, T. Krätzig, N. Tanimoto +30 more
2018Journal of Clinical Investigation36 citations Open access
Semantic Scholar
Subretinal Injection for Gene Therapy Does Not Cause Clinically Significant Outer Nuclear Layer Thinning in Normal Primate Foveae.
G. A. Ochakovski, T. Peters, S. Michalakis, B. Wilhelm +4 more
2017Investigative Ophthalmology and Visual Science36 citations Open access
Semantic Scholar
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy
M. Charif, N. Gueguen, Marc Ferré, Z. Elkarhat +33 more
2021Brain Communications35 citations Open access
Semantic Scholar
Splicing mutations in inherited retinal diseases.
N. Weisschuh, Elena Buena-Atienza, B. Wissinger
2020Progress in retinal and eye research35 citations
Semantic Scholar
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
N. Weisschuh, M. Sturm, Britta Baumann, I. Audo +21 more
2019Human Mutation34 citations Open access
Semantic Scholar
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene
Anna Skorczyk-Werner, W. Chiang, Anna Wawrocka, Katarzyna Wicher +11 more
2017European Journal of Human Genetics34 citations Open access
Semantic Scholar
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Anja K Mayer, M. Mahajnah, Mervyn G. Thomas, Y. Cohen +13 more
2019Brain : a journal of neurology32 citations Open access
Semantic Scholar
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders
C. Zeitz, C. Michiels, M. Neuillé, C. Friedburg +53 more
2019Human Mutation31 citations Open access
Semantic Scholar
Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia
N. Weisschuh, K. Stingl, I. Audo, S. Biskup +13 more
2018Human Mutation31 citations
Semantic Scholar
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
Janine Reurink, N. Weisschuh, A. Garanto, Adrian Dockery +46 more
2023HGG advances30 citations Open access
Semantic Scholar
Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants
N. Weisschuh, Simone Schimpf-Linzenbold, P. Mazzola, Sinja Kieninger +8 more
2021PLoS ONE30 citations Open access
Semantic Scholar
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa
Laura Kuehlewein, D. Zobor, K. Stingl, Melanie Kempf +13 more
2021International Journal of Molecular Sciences30 citations Open access
Semantic Scholar
OPA1 haploinsufficiency induces a BNIP3‐dependent decrease in mitophagy in neurons: relevance to Dominant Optic Atrophy
M. Moulis, A. Millet, M. Daloyau, M. Miquel +4 more
2017Journal of Neurochemistry30 citations
Semantic Scholar
KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
M. Georgiou, K. Fujinami, Ajoy Vincent, Fadi Nasser +33 more
2021American journal of ophthalmology-glaucoma27 citations Open access
Semantic Scholar
KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1
M. Georgiou, A. Robson, K. Fujinami, S. Leo +32 more
2020American journal of ophthalmology-glaucoma27 citations Open access
Semantic Scholar
Blue Cone Monochromacy Caused by the C203R Missense Mutation or Large Deletion Mutations.
A. Sumaroka, Alexandra V. Garafalo, A. Cideciyan, J. Charng +7 more
2018Investigative Ophthalmology and Visual Science27 citations Open access
Semantic Scholar
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy
Sinja Kieninger, Ting Xiao, N. Weisschuh, S. Kohl +10 more
2022Journal of Medical Genetics26 citations Open access
Semantic Scholar
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene
J. Felden, Britta Baumann, Manir Ali, I. Audo +18 more
2019Human Mutation26 citations Open access
Semantic Scholar
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases
Pablo Llavona, M. Pinelli, M. Mutarelli, V. Marwah +6 more
2017Genes24 citations Open access
Semantic Scholar
CNGB1-related rod-cone dystrophy: a mutation review and update.
M. Nassisi, V. Smirnov, Cyntia Solís-Hernández, S. Mohand-Said +29 more
2021Human Mutation23 citations Open access
Semantic Scholar
Genetic Heritability of Pigmentary Glaucoma and Associations With Other Eye Phenotypes.
Mark J. Simcoe, N. Weisschuh, B. Wissinger, P. Hysi +1 more
2020JAMA ophthalmology23 citations Open access
Semantic Scholar
Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy
Anna Wawrocka, Anna Skorczyk-Werner, Katarzyna Wicher, Zuzanna Niedziela +9 more
2018Molecular Vision23 citations
Semantic Scholar
Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy
Marie Anne-Catherine Neumann, Dajana Grossmann, Simone Schimpf-Linzenbold, D. Dayan +14 more
2020Scientific Reports22 citations Open access
Semantic Scholar
Gene Therapy Successfully Delays Degeneration in a Mouse Model of PDE6A-Linked Retinitis Pigmentosa (RP43)
C. Schön, V. Sothilingam, Regine Mühlfriedel, Marina Garcia Garrido +8 more
2017Human Gene Therapy22 citations
Semantic Scholar
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption
Christoph Jüschke, T. Klopstock, C. Catarino, M. Owczarek-Lipska +2 more
2021Molecular Therapy: Nucleic Acids21 citations Open access
Semantic Scholar
Extra-viral DNA in adeno-associated viral vector preparations induces TLR9-dependent innate immune responses in human plasmacytoid dendritic cells
K. Bucher, E. Rodríguez-Bocanegra, B. Wissinger, T. Straßer +4 more
2023Scientific Reports20 citations Open access
Semantic Scholar
Biallelic Loss‐of‐Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh‐Like Syndrome to Isolated Optic Atrophy
F. Magrinelli, Elisa Calì, V. Braga, U. Yiş +23 more
2021Movement Disorders Clinical Practice20 citations Open access
Semantic Scholar
First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
N. Weisschuh, P. Mazzola, Tilman Heinrich, T. Haack +3 more
2020BMC Medical Genetics19 citations Open access
Semantic Scholar
Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.
Laura Kuehlewein, D. Zobor, S. Andréasson, C. Ayuso +21 more
2020JAMA ophthalmology19 citations Open access
Semantic Scholar
Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia
M. Solaki, Britta Baumann, Peggy Reuter, S. Andréasson +47 more
2022Human Mutation17 citations Open access
Semantic Scholar
Effective splicing restoration of a deep-intronic ABCA4 variant in cone photoreceptor precursor cells by CRISPR/SpCas9 approaches
Pietro De Angeli, Peggy Reuter, S. Hauser, L. Schöls +3 more
2022Molecular Therapy: Nucleic Acids17 citations Open access
Semantic Scholar
Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants
N. Weisschuh, P. Mazzola, Miriam Bertrand, T. Haack +3 more
2021International Journal of Molecular Sciences16 citations Open access
Semantic Scholar
Foveal Therapy in Blue Cone Monochromacy: Predictions of Visual Potential From Artificial Intelligence
A. Sumaroka, A. Cideciyan, Rebecca Sheplock, Vivian Wu +3 more
2020Frontiers in Neuroscience13 citations Open access
Semantic Scholar

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