Author

Joanne Slater

University of Oxford

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Amanda Dixon‐McIver· 1 shared Andrew O.M. WilkieiD· 1 shared Christian BabbsiD· 1 shared Cornelis L. HarteveldiD· 1 shared Douglas R. HiggsiD· 1 shared Evie MaifoshieiD· 1 shared Jan Traeger-Synodinos· 1 shared Jill M. BrowniD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Amanda Dixon‐McIver

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1 paper

Recent·Most cited

ATR16 Syndrome: Mechanisms Linking Monosomy to Phenotype

Christian Babbs, Jill M. Brown, Sharon W. Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, Paul Ooijevaar, Marjolein Kriek, Amanda Dixon‐McIver, Cornelis L. Harteveld, Jan Traeger-Synodinos, Andrew O.M. Wilkie, Douglas R. Higgs, Veronica J. Buckle

This study investigates ATR-16 syndrome, finding that deletion size correlates with severity but no critical region defines the phenotype, and genetic background significantly affects outcomes.

Journal of Medical Genetics · Jan 31, 2020Peer-reviewedGenetics