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Britta Baumann · SciRah

Researcher profile · Semantic Scholar

Britta Baumann

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Britta Baumann — researcher profile on SciRah

h-index: 22
Works: 45
Citations: 1,999

Most-cited papers

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.
S. Kohl, Britta Baumann, M. Broghammer, H. Jägle +7 more
2000Human Molecular Genetics297 citations
Semantic Scholar
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
S. Kohl, Britta Baumann, T. Rosenberg, U. Kellner +4 more
2002American Journal of Human Genetics271 citations Open access
Semantic Scholar
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
S. Kohl, B. Varsányi, Gesine Abadin Antunes, Britta Baumann +24 more
2005European Journal of Human Genetics252 citations Open access
Semantic Scholar
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
B. Chang, Tanja Grau, S. Dangel, R. Hurd +10 more
2009Proceedings of the National Academy of Sciences of the United States of America193 citations Open access
Semantic Scholar
Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
B. Wissinger, S. Dangel, H. Jägle, L. Hansen +9 more
2008Investigative Ophthalmology and Visual Science96 citations
Semantic Scholar
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
J. P. Greenberg, J. Sherman, S. Zweifel, Royce W. S. Chen +6 more
2014JAMA ophthalmology69 citations Open access
Semantic Scholar
Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.
B. Wissinger, H. Jägle, S. Kohl, M. Broghammer +8 more
1998Genomics67 citations Open access
Semantic Scholar
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide‐gated channels, resulting in achromatopsia
Peggy Reuter, Katja Koeppen, T. Ladewig, S. Kohl +2 more
2008Human Mutation66 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
Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.
B. Wissinger, D. Besch, Britta Baumann, Sascha Fauser +4 more
1997Biochemical and Biophysical Research Communications - BBRC61 citations
Semantic Scholar
Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
T. Rosenberg, Britta Baumann, S. Kohl, E. Zrenner +2 more
2004Investigative Ophthalmology and Visual Science55 citations
Semantic Scholar
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
B. Wissinger, Simone Schaich, Britta Baumann, M. Bonin +23 more
2011Human Mutation53 citations Open access
Semantic Scholar
Mutations in the CNGB 3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ACHM 3 ) linked to chromosome 8 q 21
S. Kohl, Britta Baumann, M. Broghammer, H. Jägle +7 more
200041 citations
Semantic Scholar
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
V. Carelli, S. Schimpf, N. Fuhrmann, M. L. Valentino +21 more
2011Human Molecular Genetics39 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
De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
Elena Buena-Atienza, K. Rüther, Britta Baumann, R. Bergholz +19 more
2016Scientific Reports36 citations Open access
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
Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort.
D. Zobor, Gergely Zobor, Stephanie Hipp, Britta Baumann +5 more
2018Investigative Ophthalmology and Visual Science32 citations Open access
Semantic Scholar
Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3R427C and A3R563C
Katja Koeppen, Peggy Reuter, S. Kohl, Britta Baumann +2 more
2008European Journal of Neuroscience30 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
Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
Beate Leo-Kottler, M. Christ-Adler, Britta Baumann, E. Zrenner +1 more
1996German journal of ophthalmology24 citations
Semantic Scholar
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide‐gated channel
Katja Koeppen, Peggy Reuter, T. Ladewig, S. Kohl +6 more
2010Human Mutation23 citations Open access
Semantic Scholar
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin
Z. Ravesh, M. El-Asrag, N. Weisschuh, M. Mckibbin +17 more
2015Molecular Vision22 citations
Semantic Scholar
Multiexon deletion alleles of ATF6 linked to achromatopsia.
Eun-Jin Lee, W. Chiang, Heike Kroeger, Chloe Bi +15 more
2020JCI Insight19 citations Open access
Semantic Scholar
Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family
D. Zobor, Ghassan Balousha, Britta Baumann, B. Wissinger
2014Molecular Vision19 citations
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
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
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia
A. Matet, S. Kohl, Britta Baumann, A. Antonio +3 more
2018Scientific Reports10 citations Open access
Semantic Scholar
Five novel CNGB3 gene mutations in Polish patients with achromatopsia
Anna Wawrocka, S. Kohl, Britta Baumann, Joanna Walczak-Sztulpa +3 more
2014Molecular Vision9 citations
Semantic Scholar
Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16
V. Carelli, S. Schimpf, M. L. Valentino, N. Fuhrmann +15 more
20077 citations
Semantic Scholar
Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction
K. Stingl, Britta Baumann, Pietro De Angeli, Ajoy Vincent +8 more
2022International Journal of Molecular Sciences5 citations Open access
Semantic Scholar
Paternal Uniparental Isodisomy of Chromosome 2 in a Patient with CNGA3-Associated Autosomal Recessive Achromatopsia
S. Kohl, Britta Baumann, F. Dassie, Anja K Mayer +5 more
2021International Journal of Molecular Sciences5 citations Open access
Semantic Scholar
Achromatopsia on chromosome 8q21 is caused by mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP gated channel
S. Kohl, Britta Baumann, M. Broghammer, H. Jaegle +7 more
20003 citations
Semantic Scholar
Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes
Samer Khateb, Aya Shemesh, Ashly Offenheim, R. Sheffer +8 more
2022Molecular Vision2 citations
Semantic Scholar
A mutation-agnostic and allele-specific ASO strategy demonstrates potent functional rescue and retinal preservation in RHO-linked retinitis pigmentosa
Salome Spaag, Wen-Hsuan Wu, Justin Yun, A. Demirkol +28 more
2026bioRxiv1 citations Open access
Semantic Scholar
Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects
B. Wissinger, Britta Baumann, Elena Buena-Atienza, C. Gross +1 more
2024npj Genomic Medicine1 citations Open access
Semantic Scholar
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia
A. Matet, S. Kohl, Britta Baumann, A. Antonio +3 more
2018Scientific Reports1 citations Open access
Semantic Scholar
Digenic triallelic inheritance in cone photoreceptor cyclic nucleotide gated channel associated retinopathies
S. Kohl, Markus Burkard, Timm Kraetzig, N. Tanimoto +7 more
20190 citations
Semantic Scholar
Copy number variations in CNGB3-linked autosomal recessive achromatopsia
S. Kohl, Anja K Mayer, C. van Cauwenbergh, Christine Rother +4 more
20180 citations
Semantic Scholar
Retina Phenotype Variations Caused by Mutations in the RP 1 L 1 Gene in a Large Mainly German Cohort
D. Zobor, Gergely Zobor, Stephanie Hipp, Britta Baumann +6 more
20180 citations
Semantic Scholar
Uniparental isodisomy of chromosome 2 in CNGA3-associated achromatopsia
S. Kohl, Britta Baumann, Anja K Mayer, B. Wissinger
20170 citations
Semantic Scholar
OPN1LW/MW exon 3 haplotypes associated with Blue Cone Monochromacy disrupt exonic regulatory elements of splicing and can arise by gene conversion
Elena Buena-Atienza, Britta Baumann, N. Weisschuh, K. Ruether +2 more
20150 citations
Semantic Scholar
Exon 3 genotypes of OPN1LW/OPN1MW associated with X-linked congenital cone dysfunction
S. Kohl, Britta Baumann, C. Hamel, P. Gustavsson +5 more
20130 citations
Semantic Scholar
Generation of a Transgenic Mouse Expressing a Ca2+ Biosensor to Investigate Cone Photoreceptor Ca2+ Homeostasis
T. Wei, Katja Koeppen, T. Ott, N. Rieger +5 more
20100 citations
Semantic Scholar
Comprehensive Mutation Spectrum for Autosomal Recessively Inherited Achromatopsia
S. Kohl, Britta Baumann, H. Jägle, E. Zrenner +1 more
20050 citations
Semantic Scholar

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