Emma M Wade

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 8

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

Genes

Human mutation

University of Otago

University of Otago (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Otago

New Zealand

Postdoctoral Fellow :: Women's and Children's Health

University of Manchester

United Kingdom

Research Assistant

Education History

University of Otago

New Zealand

PHD :: Women's and Children's Health

University of York

United Kingdom

BSC :: Biology

Publications

Emma M Wade, Tim Morgan, Gregory Gimenez, Zandra A Jenkins, Hannah Titheradge, Marie O'Donnell, David Skidmore, Mohnish Suri, Stephen P Robertson
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival. American journal of medical genetics. Part A (2024)
Emma M Wade, Elizabeth A Goodin, Tim Morgan, Stephana Pereira, Adele G Woolley, Zandra A Jenkins, Philip B Daniel, Stephen P Robertson
The hinge-1 domain of Flna is not necessary for diverse physiological functions in mice. European journal of clinical investigation (2024)
Emma M Wade, Zandra A Jenkins, Tim Morgan, Gregory Gimenez, Hayley Gibson, Hui Peng, Rossana Sanchez Russo, Cara M Skraban, Emma Bedoukian, Stephen P Robertson
Exon skip-inducing variants in FLNA in an attenuated form of frontometaphyseal dysplasia. American journal of medical genetics. Part A 185 (12) (2021)
Kaya Fukushima, Padmini Parthasarathy, Emma M Wade, Tim Morgan, Kalpana Gowrishankar, David M Markie, Stephen P Robertson
Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome. Genes 12 (4) (2021)
Emma M Wade, Padmini Parthasarathy, Jingyi Mi, Tim Morgan, Bernd Wollnik, Stephen P Robertson, Tim Cundy
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasia. European journal of human genetics : EJHG (2021)
Alexander J M Blakes, Emily Gaul, Wayne Lam, Nora Shannon, Karen M Knapp, Louise S Bicknell, Meremaihi R Jackson, Emma M Wade, Stephen P Robertson, Susan M White, Raoul Heller, Andrew Chase, Diana Baralle, Andrew G L Douglas
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity. European journal of human genetics : EJHG 29 (4) (2020)
Jingyi Mi, Padmini Parthasarathy, Benjamin J Halliday, Tim Morgan, John Dean, Malgorzata J M Nowaczyk, David Markie, Stephen P Robertson, Emma M Wade
Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis. Genes 11 (12) (2020)
Emma M Wade, Benjamin J Halliday, Zandra A Jenkins, Adam C O'Neill, Stephen P Robertson
The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. Human mutation 41 (5) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Emma M Wade