Mirjana Gusic
Neuherberg, BY 85764, Germany
Last Updated: 09/26/2026
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Found 22 publications
Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.
Journal: International journal of molecular sciences
Published: September 09, 2022
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency.
Journal: Brain pathology (Zurich, Switzerland)
Published: August 22, 2022
Direct neuronal reprogramming of NDUFS4 patient cells identifies the unfolded protein response as a novel general reprogramming hurdle.
Journal: Neuron
Published: June 23, 2022
Author Correction: Detection of aberrant splicing events in RNA-seq data using FRASER.
Journal: Nature communications
Published: June 17, 2022
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.
Journal: American journal of human genetics
Published: March 27, 2022
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
Journal: Brain : a journal of neurology
Published: June 24, 2021
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Journal: Genome medicine
Published: May 17, 2021
Corrigendum: ncRNAs: New Players in Mitochondrial Health and Disease?
Journal: Frontiers in genetics
Published: March 06, 2020
Detection of aberrant splicing events in RNA-seq data using FRASER.
Journal: Nature communications
Published: February 03, 2020
Detection of aberrant gene expression events in RNA sequencing data.
Journal: Nature protocols
Published: December 09, 2019
ncRNAs: New Players in Mitochondrial Health and Disease?
Journal: Frontiers in genetics
Published: November 05, 2019
Last Updated: 09/26/2026