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Emma M Wade

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2021
Publications (10 Years): 6

Top Venues

European journal of human genetics : EJHG

Genes

American journal of medical genetics. Part A

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

Education History

University of Otago

New Zealand

PHD :: Women's and Children's Health

Publications

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