Silke Feil

Schlieren, ZH 8952, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

Retinal Dystrophy Associated with Homozygous Variants in NRL.

Retinal Dystrophy Associated with Homozygous Variants in NRL.

Journal: Genes

Published: November 15, 2024

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

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

Journal: Genes

Published: September 26, 2024

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

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

Journal: International journal of molecular sciences

Published: August 08, 2024

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

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

Journal: Cells

Published: June 05, 2024

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

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

Journal: International journal of molecular sciences

Published: May 06, 2024

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract.

Journal: International journal of molecular sciences

Published: August 27, 2023

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

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

Journal: Genes

Published: March 20, 2023

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.

Functional Characterization of an In-Frame Deletion in the Basic Domain of the Retinal Transcription Factor ATOH7.

Journal: International journal of molecular sciences

Published: December 13, 2021

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract.

Journal: JAMA ophthalmology

Published: May 20, 2021

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

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

Journal: International journal of molecular sciences

Published: January 04, 2021

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

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

Journal: Genes

Published: November 20, 2020

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.

Journal: Acta ophthalmologica

Published: April 17, 2020

Showing 1-12 of 16

Last Updated: 09/26/2026