Author

Frances Emslie

St George's, University of London

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

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Abinayah JohniD· 1 shared Anna KolesnikiD· 1 shared Christina Ringmann FagerbergiD· 1 shared Daniel J. ScottiD· 1 shared Elise Ng‐CordelliD· 1 shared Fabian BumbakiD· 1 shared Holly MellandiD· 1 shared Jasper J. van der SmagtiD· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abinayah JohnORCID

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1 paper

Recent·Most cited

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik, Elise Ng‐Cordell, Abinayah John, Panayiotis Constantinou, Shelagh K. Joss, Martin Jakob Larsen, Christina Ringmann Fagerberg, Lone Walentin Laulund, Jenny M. Thies, Frances Emslie, Marjolein H. Willemsen, Tjitske Kleefstra, Rolf Pfundt, , Kate Baker

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

Genetics in Medicine · Jan 28, 2022Peer-reviewedGenetic & Genomic Medicine