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American Journal of Medical Genetics. Part A|November 16, 2019
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patientFilip Majer, Bohdan Kousal, Petr Dusek, et al.
Nutrients|September 28, 2021
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide StudyKristina Rücklová, Eva Hrubá, Markéta Pavlíková, et al.
Acta Ophthalmologica|June 14, 2020
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon diseaseBohdan Kousal, Filip Majer, Hana Vlaskova, et al.
Acta Ophthalmologica|June 29, 2026
Radial outer retina reflectivity (RORR) sign in LAMP2-associated retinopathyRachael C Heath Jeffery, Bohdan Kousal, Ulrike Grünert, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
American Journal of Human Genetics|February 26, 2026
Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, causes a late-onset retinal dystrophyAbigail R Moye, Caitlyn L McCafferty, Siying Lin, et al.
American Journal of Ophthalmology|June 8, 2025
Natural History of Autosomal Recessive IMPG2-Associated Retinal DystrophyMichalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, et al.
American Journal of Human Genetics|October 15, 2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathyStijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 21, 2020
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomicsMubeen Khan, Stéphanie S Cornelis, Marta Del Pozo-Valero, et al.
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