Jordi Maggi

University of Zurich

Switzerland

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Articles (12)

Year:

2025

Year:

2024

Year:

2024

Year:

2024

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2024

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2024

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2023

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2022

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2021

Year:

2021

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2020

Year:

2020

Collaborators (9)

Vyara Todorova

University of Zurich

SWITZERLAND

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Anneke I. den Hollander

NETHERLANDS

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Alessandro Maspoli

University of Zurich

SWITZERLAND

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Christian Grimm

University of Zurich

SWITZERLAND

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Wolfgang Berger

University of Zurich

SWITZERLAND

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Jane Sowden

Professor in Developmental Biology and Genetics

University College London

UNITED KINGDOM

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Christina Gerth-Kahlert

Head (Leitende Ärztin) of pediatric ophthalmology, oculogenetics, orthoptics (Ophthalmology) Qualification

University Hospital of Zurich

SWITZERLAND

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Marianne Rohrbach

University of Zurich

SWITZERLAND

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Jiradet Gloggnitzer

University of Zurich

SWITZERLAND

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Jordi Maggi

Research Interests

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Articles (12)

Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders

Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development

Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes

Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort

Retinal Dystrophy Associated with Homozygous Variants in NRL

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa

Regulation of ABCA1 by AMD-Associated Genetic Variants and Hypoxia in iPSC-RPE

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

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

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 Pipeline

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

Collaborators (9)

Vyara Todorova

Anneke I. den Hollander

Alessandro Maspoli

Christian Grimm

Wolfgang Berger

Jane Sowden

Christina Gerth-Kahlert

Marianne Rohrbach

Jiradet Gloggnitzer

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