Concepedia
Statistics
Publications
6
Citations
119
H-Index
Active since
2014
Affiliations
University of Zurich(Current)
University Hospital of Zurich
ETH Zurich
Swiss Integrative Center for Human Health
Jordi Maggi is an author at University of Zurich specializing in genetics, variant analysis, and dna sequencing.
Publications per year
2014–2024
Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes
Patricia Haug, Samuel Koller, Jordi Maggi et al. · Genes · 2021 · 32 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases
Jordi Maggi, Samuel Koller, Luzy Bähr et al. · International Journal of Molecular Sciences · 2021 · 25 citations · Full text
cnvCapSeq: detecting copy number variation in long-range targeted resequencing data
Evangelos Bellos, Vikrant Kumar, Clarabelle Bitong Lin et al. · Nucleic Acids Research · 2014 · 17 citations · Full text
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
Jordi Maggi, Lisa Roberts, Samuel Koller et al. · Genes · 2020 · 16 citations · Full text
Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE
Florian Peters, Lynn J. A. Ebner, David Atac et al. · International Journal of Molecular Sciences · 2022 · 15 citations · Full text
Medicine, Genetics, Ophthalmology +17
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