Author

Melanie J. Newport

Brighton and Sussex Medical SchoolORCID 0000-0002-8946-7525Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Mahmoud KokoiD· 1 shared Mohammed O. E. AbdallahiD· 1 shared Muntaser Eltayeb IbrahimiD· 1 shared Shima Faisal· 1 shared

Activity by Year

2018-2018 · peak 1/yr

Co-Author Collaboration Network

4 top collaborators · 6 mutual co-author links

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1 shared paperGenomics

Mahmoud KokoORCID

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1 paper

Recent·Most cited

Recurrent AIPL1 c.487C>T truncating variant in Leber Congenital Amaurosis: Support of pathogenicity and regional implications

Mohammed O. E. Abdallah, Mahmoud Koko, Shima Faisal, Melanie J. Newport, Muntaser Eltayeb Ibrahim

The paper reports a recurrent AIPL1 truncating variant in a Sudanese family with Leber Congenital Amaurosis, supporting its pathogenicity and regional significance.

bioRxiv · Mar 28, 2018 · PreprintGenomics