Author

Fathimath Faiz

Pathwest Laboratory Medicine

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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

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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

Genetic & Genomic MedicineHuman Molecular GeneticsPeer-reviewedNov 2, 2022

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

Lein Dofash, Gavin Monahan, Emilia Servián‐Morilla…·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.

16 citations

humanbulk RNA-seq

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