Samuel Koller

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 19

Top Topics

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Top Venues

International journal of molecular sciences

Journal of personalized medicine

This page only lists publications with an associated author ORCID identifier.

Publications

David Atac, Kevin Maggi, Silke Feil, Jordi Maggi, Elisa Cuevas, Jane C Sowden, Samuel Koller, Wolfgang Berger
Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development. Cells 13 (13) (2024)
David Atac, Kevin Maggi, Silke Feil, Jordi Maggi, Elisa Cuevas, Jane C Sowden, Samuel Koller, Wolfgang Berger
Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development. Cells 13 (13) (2024)
Jordi Maggi, Silke Feil, Jiradet Gloggnitzer, Kevin Maggi, Ruxandra Bachmann-Gagescu, Christina Gerth-Kahlert, Samuel Koller, Wolfgang Berger
Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International journal of molecular sciences 25 (17) (2024)
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Jordi Maggi, Samuel Koller, Silke Feil, Ruxandra Bachmann-Gagescu, Christina Gerth-Kahlert, Wolfgang Berger
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International journal of molecular sciences 25 (12) (2024)
Jordi Maggi, Samuel Koller, Silke Feil, Ruxandra Bachmann-Gagescu, Christina Gerth-Kahlert, Wolfgang Berger
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International journal of molecular sciences 25 (12) (2024)
Dennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, Isabel Filges, Pascal Joset, Samuel Koller, Fabienne Maurer, Stéphanie Meier, Thierry Nouspikel, Javier Sanz, Christiane Zweier, Marc Abramowicz, Wolfgang Berger, Sven Cichon, André Schaller, Andrea Superti-Furga, Valérie Barbié, Anita Rauch
SwissGenVar : A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of personalized medicine 14 (6) (2024)
Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berger
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes 14 (4) (2023)
Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berger
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes 14 (4) (2023)
Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berger
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes 14 (4) (2023)
Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berger
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes 14 (4) (2023)
Flora Delas, Samuel Koller, Silke Feil, Ivanka Dacheva, Christina Gerth-Kahlert, Wolfgang Berger
Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract. International journal of molecular sciences 24 (23) (2023)
David Atac, Lucas Mohn, Silke Feil, Kevin Maggi, Dominik Haenni, Britta Seebauer, Samuel Koller, Wolfgang Berger
Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7. International journal of molecular sciences 23 (3) (2022)
Fatma Kivrak Pfiffner, Samuel Koller, Anika Ménétrey, Urs Graf, Luzy Bähr, Alessandro Maspoli, Annette Hackenberg, Raimund Kottke, Christina Gerth-Kahlert, Wolfgang Berger
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment. International journal of molecular sciences 23 (13) (2022)
Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert, Wolfgang Berger
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes 12 (1) (2021)
Jordi Maggi, Samuel Koller, Luzy Bähr, Silke Feil, Fatma Kivrak Pfiffner, James V M Hanson, Alessandro Maspoli, Christina Gerth-Kahlert, Wolfgang Berger
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. International journal of molecular sciences 22 (4) (2021)
Jordi Maggi, Lisa Roberts, Samuel Koller, George Rebello, Wolfgang Berger, Rajkumar Ramesar
De Novo Assembly-Based Analysis of RPGR Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipeline. Genes 11 (7) (2020)
Dinesh Kumar Kandaswamy, Makarla Venkata Sathya Prakash, Jochen Graw, Samuel Koller, István Magyar, Amit Tiwari, Wolfgang Berger, Sathiyaveedu Thyagarajan Santhiya
Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India. International journal of molecular sciences 21 (24) (2020)
Elena Lang, Samuel Koller, David Atac, Oliver A Pfäffli, James V M Hanson, Silke Feil, Luzy Bähr, Angela Bahr, Raimund Kottke, Pascal Joset, Katrin Fasler, Daniel Barthelmes, Katharina Steindl, Daniel Konrad, David-Alexander Wille, Wolfgang Berger, Christina Gerth-Kahlert
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta ophthalmologica 99 (4) (2020)