Author

Fathimath Faiz

Pathwest Laboratory Medicine

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

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Assay:bulk RNA-seq· 1 Research Focus:database / resource· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Eloy RivasiD· 1 shared Emilia Servián‐MorillaiD· 1 shared Emily C. OatesiD· 1 shared Gavin MonahaniD· 1 shared Gianina RavenscroftiD· 1 shared Joshua S. ClaytoniD· 1 shared Lein DofashiD· 1 shared Macarena Cabrera‐SerranoiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Eloy RivasORCID

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1 paper

Recent·Most cited

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla, Eloy Rivas, Fathimath Faiz, Patricia A. Sullivan, Emily C. Oates, Joshua S. Clayton, Rhonda L. Taylor, Mark R. Davis, Traude Helene Beilharz, Nigel G. Laing, Macarena Cabrera‐Serrano, Gianina Ravenscroft

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

Human Molecular Genetics · Nov 2, 2022Peer-reviewedGenetic & Genomic Medicine