Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero, +71

Genetics in Medicine

Functional GenomicsMedicineNatural SciencesOmics DatasetsNext-generation Sequencing +9

Association of Sex With Frequent and Mild <i>ABCA4</i> Alleles in Stargardt Disease

Esmee H. Runhart, Mubeen Khan, Stéphanie S. Cornelis, +36

JAMA Ophthalmology

<i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Sarah L. Stenton, Markéta Tesařová, Claudia B. Catarino, +21

Brain

Mendelian DisorderOphthalmologyGenetic DisorderGeneticsGenetic Epidemiology +13

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal, +26

The American Journal of Human Genetics

Peripapillary microcirculation in Leber hereditary optic neuropathy

Bohdan Kousal, Hana Kolářová, Martin Meliska, +6

Acta Ophthalmologica

Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants

Bohdan Kousal, Ľubica Ďuďáková, Renata Gaillyová, +4

Graefe s Archive for Clinical and Experimental Ophthalmology

Ocular DiseaseRetinaOphthalmologyDifferent Molecular ApproachesGenetics +6

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

Severe retinal degeneration in women with a c.2543del mutation in ORF15 of the RPGR gene.

Bohdan Kousal, Pavlína Skalická, Lucie Valesova, +7

PubMed

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 Study

Kristina Rücklová, Eva Hrubá, Markéta Pavlı́ková, +13

Nutrients

<i>Alu</i>‐mediated <i>Xq24</i> deletion encompassing <i>CUL4B</i>, <i>LAMP2</i>, <i>ATP1B4</i>, <i>TMEM255A</i>, and <i>ZBTB33</i> genes causes Danon disease in a female patient

Filip Majer, Bohdan Kousal, Petr Dušek, +13

American Journal of Medical Genetics Part A