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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

Inserm

Université de Lille

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

ORCID

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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 · 192 citations · Full text

<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 · 170 citations · Full text

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

Miriam Bauwens, Alejandro Garanto, Riccardo Sangermano et al. · Genetics in Medicine · 2019 · 158 citations · Full text

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

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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 · 132 citations · Full text

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