Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness

Stanislav Kmoch, Jacek Majewski, Vasanth Ramamurthy, +24

Nature Communications

Mutations in ANTXR1 Cause GAPO Syndrome

Viktor Stránecký, Alexander Hoischen, Hana Hartmannová, +22

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsPathogenesisPathology +2

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

Hana Hartmannová, Lenka Piherová, Kateřina Tauchmannová, +22

Human Molecular Genetics

Oligonucleotide-based microarray: A new improvement in microarray detection of plant viruses

Dagmar Bystřická, Ondřej Lenz, I. Mráz, +3

Journal of Virological Methods

BioinformaticsEngineeringPlant VirusPlant-virus InteractionGenetics +13

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

Hana Hartmannová, Miloš Kubánek, Marek Šramko, +12

Circulation Cardiovascular Genetics

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

Miloš Kubánek, Tereza Schimerová, Lenka Piherová, +19

Journal of Clinical Medicine

Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiency

Alena Čížková, Viktor Stránecký, Robert Ivánek, +15

BMC Genomics

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Najim Lahrouchi, Alex V. Postma, Christian Salazar, +53

Journal of Clinical Investigation

CardiomyopathyHeart FailureDevelopmental BiologyPld1 InhibitionCardiovascular Disease +13

Rare Variants in known and Novel Candidate Genes Predisposing to Statin-Associated Myopathy

Magdaléna Neřoldová, Viktor Stránecký, Kateřina Hodaňová, +9

Pharmacogenomics

Pigmentary retinopathy can indicate the presence of pathogenic <i>LAMP2</i> variants even in somatic mosaic carriers with no additional signs of Danon disease

Bohdan Kousal, Filip Majer, Hana Vlášková, +13

Acta Ophthalmologica