Andre Schaller

Bern, BE, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 54 publications

The Value of Multimodal Approach in Identification of Cone Dystrophy with Supernormal Rod Response.

The Value of Multimodal Approach in Identification of Cone Dystrophy with Supernormal Rod Response.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 17, 2026

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

A Novel Truncating Pathogenic Variant in RRM2B in a Kurdish Family With Autosomal-Dominant Chronic Progressive External Ophthalmoplegia Plus (PEOA5).

Journal: Journal of clinical neuromuscular disease

Published: March 02, 2026

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Journal: American journal of human genetics

Published: October 09, 2025

Learnings from familial visual snow syndrome: A case series.

Learnings from familial visual snow syndrome: A case series.

Journal: Headache

Published: August 07, 2025

Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel HSD3B2 Variants.

Ambiguous Genitalia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency: Clinical, Genetic, and Functional Characterization of Two Novel HSD3B2 Variants.

Journal: JCEM case reports

Published: October 21, 2024

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Non-Hotspot PIK3CA Variants Have Higher Variant Allele Frequency and are More Common in Syndromic Vascular Malformations.

Journal: American journal of medical genetics. Part A

Published: April 27, 2024

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.

Journal: Journal of personalized medicine

Published: April 04, 2024

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Prevalence and characteristics of genetic disease in adult kidney stone formers.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: December 19, 2023

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation.

Journal: Molecular genetics and metabolism reports

Published: July 27, 2023

Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.

Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by 1 H HR-MAS NMR.

Journal: Journal of inherited metabolic disease

Published: July 03, 2023

The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease.

The Value of a Combined Ophthalmogenetic Approach in Differentiating a Presumed Case of Isolated Retinitis Pigmentosa from Refsum Disease.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: May 10, 2023

Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: May 10, 2023

Showing 1-12 of 54

Last Updated: 09/26/2026