Emma M Wade

Emma M Wade

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Emma M Wade

Emma M Wade

Publications by authors named "Emma M Wade"

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TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis.

Authors:
Silvia Morlino Annalucia Carbone Marco Ritelli Carmela Fusco Vincenzo Giambra Grazia Nardella Angelantonio Notarangelo Patrizio Panelli Gianluigi Mazzoccoli Nicoletta Zoppi Paola Grammatico Emma M Wade Marina Colombi Marco Castori Lucia Micale

Hum Mutat 2019 Oct 27;40(10):1886-1898. Epub 2019 Jun 27.

Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.

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http://dx.doi.org/10.1002/humu.23834DOI Listing
October 2019

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Authors:
Emma M Wade Zandra A Jenkins Philip B Daniel Tim Morgan Marie C Addor Lesley C Adés Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Christa M de Geus Hans-Christoph Duba Elaine Fletcher Kinga Hadzsiev Raoul C M Hennekam Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann David Sillence Andrea Superti-Furga Hermine E Veenstra-Knol Dagmar Wieczorek Louise C Wilson David M Markie Stephen P Robertson

Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.

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http://dx.doi.org/10.1002/ajmg.a.38267DOI Listing
July 2017

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Authors:
Emma M Wade Philip B Daniel Zandra A Jenkins Aideen McInerney-Leo Paul Leo Tim Morgan Marie Claude Addor Lesley C Adès Debora Bertola Axel Bohring Erin Carter Tae-Joon Cho Hans-Christoph Duba Elaine Fletcher Chong A Kim Deborah Krakow Eva Morava Teresa Neuhann Andrea Superti-Furga Irma Veenstra-Knol Dagmar Wieczorek Louise C Wilson Raoul C M Hennekam Andrew J Sutherland-Smith Tim M Strom Andrew O M Wilkie Matthew A Brown Emma L Duncan David M Markie Stephen P Robertson

Am J Hum Genet 2016 08 15;99(2):392-406. Epub 2016 Jul 15.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9016, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974064PMC
August 2016

Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

Authors:
Hanneke Basart Annekatrien van de Kar Lesley Adès Tae-Joon Cho Erin Carter Saskia M Maas Louise C Wilson Chantal M A M van der Horst Emma M Wade Stephen P Robertson Raoul C Hennekam

Am J Med Genet A 2015 Jun 21;167(6):1215-22. Epub 2015 Apr 21.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.37044DOI Listing
June 2015

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2.

Authors:
Louise F Porter Jill E Urquhart Eamonn O'Donoghue A Fiona Spencer Emma M Wade Forbes D C Manson Graeme C M Black

Invest Ophthalmol Vis Sci 2011 Oct 4;52(11):7859-65. Epub 2011 Oct 4.

School of Biomedicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1167/iovs.10-6581DOI Listing
October 2011