Author

Muhammad Imran Khan

Radboud University Medical CenterORCID 0000-0003-0276-5480Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Assay:whole-exome sequencing· 3 Research Focus:differential expression· 2 Approach:experimental assay· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:gene regulatory network inference· 1

Frequent Co-Authors

Frans P.M. CremersiD· 3 shared Carlo RivoltaiD· 2 shared Koji M. NishiguchiiD· 2 shared Konstantinos NikopoulosiD· 2 shared Pietro FarinelliiD· 2 shared Akira MurakamiiD· 1 shared Alberta A. H. J. ThiadensiD· 1 shared Alexander HoischeniD· 1 shared

Activity by Year

2018-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Frans P.M. CremersORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineFrontiers in Cell and Developmental BiologyPeer-reviewedFeb 3, 2023

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes…·Susanne Roosing

The paper introduces a cost-effective smMIPs panel for genetic analysis of RP and LCA, achieving a 56% diagnostic yield comparable to WES.

29 citations

humanwhole-exome sequencing

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GenomicsNature CommunicationsPeer-reviewedJun 28, 2019

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy

Konstantinos Nikopoulos, Katarina Vizar Cisarova, Mathieu Quinodoz…·Carlo Rivolta

The paper identifies a common variant in the Japanese population that shows quasi-Mendelian inheritance patterns in rare retinal ciliopathy.

41 citations

humanwhole-exome sequencing

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GeneticsPLoS ONEPeer-reviewedDec 21, 2018

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

Nicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan…·Ditta Zobor

This study analyzes genetic mutations in 27 German LCA patients, identifying 93% pathogenic variants using MIP-based sequencing and highlighting the importance of genetic testing in IRD diagnosis.

45 citations

humanwhole-exome sequencing

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