Concepedia

Bohdan Kousal

BK

11

Publications

376

Citations

10

H-Index

2014

Active since

Affiliations

Charles University(Current)

General University Hospital in Prague

University College London

Moorfields Eye Hospital

Moorfields Eye Hospital NHS Foundation Trust

Bohdan Kousal is an author at Charles University specializing in medicine, genetics, and ophthalmology.

ORCID

Top concepts

Publications per year

2014–2022

11

Publications

11

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 et al. · Genetics in Medicine · 2020 · 139 citations · Full text

, , +11

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

Esmee H. Runhart, Mubeen Khan, Stéphanie S. Cornelis et al. · JAMA Ophthalmology · 2020 · 44 citations · Full text

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

Sarah L. Stenton, Markéta Tesařová, Claudia B. Catarino et al. · Brain · 2022 · 40 citations · Full text

, , +15

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 et al. · The American Journal of Human Genetics · 2022 · 35 citations · Full text

Peripapillary microcirculation in Leber hereditary optic neuropathy

Bohdan Kousal, Hana Kolářová, Martin Meliska et al. · Acta Ophthalmologica · 2018 · 27 citations · Full text

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