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Gene|November 6, 2018
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?Schaida Schirwani, Vivienne McConnell, Josh Willoughby, et al.
Ophthalmic Genetics|September 12, 2013
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissectionsSarah Chamney, Stuart McGimpsey, Vivienne McConnell, et al.
The Ulster Medical Journal|March 1, 2012
The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population studyDeirdre E Donnelly, Vivienne McConnell, Anne Paterson, et al.
Clinical Genetics|March 29, 2022
IQSEC2-related encephalopathy in males due to missense variants in the pleckstrin homology domainCheryl Shoubridge, Tracy Dudding-Byth, Laurent Pasquier, et al.
Plos Medicine|December 29, 2007
Neovascular age-related macular degeneration risk based on CFH, LOC387715/HTRA1, and smokingAnne E Hughes, Nick Orr, Chris Patterson, et al.
BMC Medical Genetics|April 30, 2013
Deletions within COL11A1 in Type 2 stickler syndrome detected by multiplex ligation-dependent probe amplification (MLPA)Raymon Vijzelaar, Sarah Waller, Abdellatif Errami, et al.
Molecular Vision|October 7, 2004
A novel diagnostic test detects a low frequency of the hemicentin Gln5345Arg variant among Northern Irish age related macular degeneration patientsGareth J McKay, Stephen Clarke, Anne Hughes, et al.
International Journal of Molecular Sciences|August 4, 2018
A Novel Splice-Site Mutation in <i>VEGFC</i> Is Associated with Congenital Primary Lymphoedema of GordonNoeline Nadarajah, Dörte Schulte, Vivienne McConnell, et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology|June 18, 2015
Colorectal Cancer Risk Following Adenoma Removal: A Large Prospective Population-Based Cohort StudyHelen G Coleman, Maurice B Loughrey, Liam J Murray, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.
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