Concepedia

Mubeen Khan

MK

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Publications

16

Citations

1.3K

H-Index

14

Active since

2017

Affiliations

Radboud University Medical Center(Current)

Radboud University Nijmegen

Radboud Institute for Molecular Life Sciences

Université de Lille

Inserm

Mubeen Khan is an author at Radboud University Medical Center specializing in medical genetics, genetics, and molecular genetics.

ORCID

Publications per year

2017–2023

16

Publications

16

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 198 citations · Full text

, , +17

<i>ABCA4</i>midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease

Riccardo Sangermano, Mubeen Khan, Stéphanie S. Cornelis et al. · Genome Research · 2017 · 175 citations · Full text

, , +17

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Alejandro Garanto, Riccardo Sangermano, Sarah Naessens et al. · Genetics in Medicine · 2019 · 163 citations · Full text

, , +17

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

Mubeen Khan, Stéphanie S. Cornelis, Laura Whelan et al. · Genetics in Medicine · 2020 · 142 citations · Full text

, , +14

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

Sílvia Albert, Alejandro Garanto, Riccardo Sangermano et al. · The American Journal of Human Genetics · 2018 · 136 citations · Full text

, , +11

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