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Angela Bahr · SciRah

Researcher profile · Semantic Scholar

Angela Bahr

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Angela Bahr — researcher profile on SciRah

h-index: 12
Works: 20
Citations: 605

Most-cited papers

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans
J. Collier, C. Guissart, M. Oláhová, S. Sasorith +29 more
2021New England Journal of Medicine146 citations Open access
Semantic Scholar
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies
Amit Tiwari, Angela Bahr, Luzy Bähr, J. Fleischhauer +7 more
2016Scientific Reports75 citations Open access
Semantic Scholar
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome
Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, M. Reijnders +39 more
2019bioRxiv72 citations Open access
Semantic Scholar
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype
P. Zanoni, K. Steindl, Deepanwita Sengupta, P. Joset +30 more
2021Genetics in Medicine47 citations Open access
Semantic Scholar
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.
Ajoy Vincent, Judith Ng, C. Gerth-Kahlert, E. Tavares +14 more
2016Investigative Ophthalmology and Visual Science46 citations Open access
Semantic Scholar
The evolution of MHC diversity: evidence of intralocus gene conversion and recombination in a single-locus system.
Angela Bahr, A. B. Wilson
2012Gene35 citations Open access
Semantic Scholar
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis
A. Medeiros-Domingo, A. Saguner, I. Magyar, Angela Bahr +4 more
2016Europace32 citations Open access
Semantic Scholar
Mutual mate choice in the potbellied seahorse (Hippocampus abdominalis)
Angela Bahr, S. Sommer, Beat Mattle, A. B. Wilson
201229 citations Open access
Semantic Scholar
Genotype–phenotype spectrum in isolated and syndromic nanophthalmos
Elena Lang, S. Koller, David Atac, Oliver Pfäffli +13 more
2020Acta ophthalmologica25 citations Open access
Semantic Scholar
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes
Elena Lang, S. Koller, Luzy Bähr, M. Töteberg-Harms +7 more
2020Translational Vision Science & Technology23 citations Open access
Semantic Scholar
C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations.
C. Gerth-Kahlert, Amit Tiwari, J. V. Hanson, V. Batmanabane +19 more
2017Investigative Ophthalmology and Visual Science21 citations Open access
Semantic Scholar
The impact of sex-role reversal on the diversity of the major histocompatibility complex: Insights from the seahorse (Hippocampus abdominalis)
Angela Bahr, A. B. Wilson
2011BMC Evolutionary Biology16 citations Open access
Semantic Scholar
Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.
C. Gerth-Kahlert, S. Koller, J. V. Hanson, Luzy Baehr +4 more
2019Investigative Ophthalmology and Visual Science12 citations Open access
Semantic Scholar
Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia.
David Atac, S. Koller, J. V. Hanson, Silke Feil +7 more
2019Human Molecular Genetics11 citations Open access
Semantic Scholar
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
Paranchai Boonsawat, A. Horn, K. Steindl, A. Baumer +12 more
2022npj Genomic Medicine6 citations Open access
Semantic Scholar
High intralocus variability and interlocus recombination promote immunological diversity in a minimal major histocompatibility system
A. B. Wilson, C. Whittington, Angela Bahr
2014BMC Evolutionary Biology6 citations Open access
Semantic Scholar
A very mild phenotype in six individuals of a three‐generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS‐related RASopathy distinct from Costello syndrome
Tanja Frey, Ivan Ivanovski, Angela Bahr, M. Zweier +4 more
2023American Journal of Medical Genetics. Part A2 citations Open access
Semantic Scholar
Unusual retinopathy in a child with severe combined immune deficiency
C. Gerth-Kahlert, Amit Tiwari, Mathias M. Hauri-Hohl, J. V. Hanson +4 more
2018Ophthalmic Genetics1 citations Open access
Semantic Scholar
Genotype - phenotype analysis in a family with autosomal dominant retinitis pigmentosa and a mutation in SNRNP200.
C. Gerth-Kahlert, Amit Tiwari, Angela Bahr, J. V. Hanson +1 more
20170 citations
Semantic Scholar
Complex optic nerve and macular hypoplasia in two siblings with compound heterozygous mutations in the ATOH7 gene
C. Gerth-Kahlert, Amit Tiwari, Angela Bahr, Luzy Bähr +2 more
20160 citations
Semantic Scholar

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W. Berger×11
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C. Gerth-Kahlert×10
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