11 Publications
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.
Eur J Hum Genet 2020 Nov 22. Epub 2020 Nov 22.
Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
J Mol Med (Berl) 2020 11 22;98(11):1639-1656. Epub 2020 Sep 22.
Department of Ophthalmology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX, USA.
Hum Mutat 2020 05 11;41(5):865-883. Epub 2020 Mar 11.
Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Biochim Biophys Acta Mol Basis Dis 2020 06 24;1866(6):165742. Epub 2020 Feb 24.
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
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.
Hum Mutat 2019 10 27;40(10):1886-1898. Epub 2019 Jun 27.
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, Foggia, Italy.
Am J Med Genet A 2017 Jul 12;173(7):1739-1746. Epub 2017 May 12.
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:
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.
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.