De Novo Assembly-Based Analysis of <i>RPGR</i> Exon ORF15 in an Indigenous African Cohort Overcomes Limitations of a Standard Next-Generation Sequencing (NGS) Data Analysis Pipelin...

by Jordi Maggi, Lisa Roberts, Samuel Koller, George Rebello, Wolfgang Berger, Rajkumar Ramesar
Published 2020-07-01

The Expression of Decidual Protein Induced by Progesterone (DEPP) Is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells

by Katrin Klee, Federica Storti, Jordi Maggi, Vyara Todorova, Duygu Karademir, Wolfgang Berger, Marijana Samardzija, Christian Grimm
Published 2020-01-01

Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases

by Jordi Maggi, Samuel Koller, Luzy Bähr, Silke Feil, Fatma Kivrak Pfiffner, James V. M. Hanson, Alessandro Maspoli, Christina Gerth-Kahlert, Wolfgang Berger
Published 2021-02-01

Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

by Patricia Haug, Samuel Koller, Jordi Maggi, Elena Lang, Silke Feil, Agnès Wlodarczyk, Luzy Bähr, Katharina Steindl, Marianne Rohrbach, Christina Gerth-Kahlert, Wolfgang Berger
Published 2021-01-01