Hanno J. Bolz

Ingelheim Am Rhein, RP, Germany

Last Updated: 09/26/2026

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Found 95 publications

Homozygous ROM1 frameshift variant associated with late-onset retinal dystrophy.

Homozygous ROM1 frameshift variant associated with late-onset retinal dystrophy.

Journal: Ophthalmic genetics

Published: August 24, 2026

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

Journal: Human genomics

Published: February 08, 2026

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes.

Journal: American journal of human genetics

Published: December 22, 2025

CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes.

CRISPR/Cas-mediated activation of genes associated with inherited retinal dystrophies in human cells for diagnostic purposes.

Journal: JCI insight

Published: October 07, 2025

Mutation of the Thyroid Hormone Receptor Beta Gene (THRB) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability.

Mutation of the Thyroid Hormone Receptor Beta Gene (THRB) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability.

Journal: Genes

Published: September 18, 2025

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.

Severe Joubert syndrome in family with homozygous POC1B p.Arg106Pro variant is due to a co-inherited deep-intronic mutation in the neighboring CEP290 gene.

Journal: HGG advances

Published: January 24, 2025

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.

Phenotypic and Genetic Spectrum in 309 Consecutive Pediatric Patients with Inherited Retinal Disease.

Journal: International journal of molecular sciences

Published: September 22, 2024

Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGR ORF15 mutation.

Phenotypic characterization of a female patient with retinitis pigmentosa caused by a homozygous X-linked RPGR ORF15 mutation.

Journal: American journal of ophthalmology case reports

Published: July 02, 2024

High-speed whole-genome sequencing of a Whippet: Rapid chromosome-level assembly and annotation of an extremely fast dog's genome.

High-speed whole-genome sequencing of a Whippet: Rapid chromosome-level assembly and annotation of an extremely fast dog's genome.

Journal: GigaByte (Hong Kong, China)

Published: May 22, 2024

Haplotype-resolved genome and population genomics of the threatened garden dormouse in Europe.

Haplotype-resolved genome and population genomics of the threatened garden dormouse in Europe.

Journal: Genome research

Published: February 21, 2024

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Journal: Biomolecules

Published: January 29, 2024

Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics

Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics

Journal: Die Ophthalmologie

Published: May 08, 2023

Showing 1-12 of 95

Last Updated: 09/26/2026