Publications by authors named "David Markie"

35Publications

Deletion of Exon 1 in in Osteopathia Striata with Cranial Sclerosis.

Genes (Basel) 2020 Nov 30;11(12). Epub 2020 Nov 30.

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

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November 2020

Wilms tumor in patients with osteopathia striata with cranial sclerosis.

Eur J Hum Genet 2020 Sep 2. Epub 2020 Sep 2.

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

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September 2020

An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.

J Clin Endocrinol Metab 2020 03;105(3)

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

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March 2020

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype.

Eur J Hum Genet 2020 04 2;28(4):445-452. Epub 2019 Dec 2.

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

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April 2020

Genetic investigation into an increased susceptibility to biliary atresia in an extended New Zealand Māori family.

BMC Med Genomics 2018 Dec 18;11(1):121. Epub 2018 Dec 18.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, 9054, New Zealand.

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December 2018

A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.

Ophthalmology 2016 Apr 16;123(4):709-22. Epub 2016 Jan 16.

Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand. Electronic address:

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April 2016