Browsing by Author Donald, Jennifer A

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Issue DateTitleAuthor(s)Citation
2007Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1Christodoulou, John; Ouvrier, Robert; Banning, Martijn J G; de Brouwer, Arjan P. M.; Donald, Jennifer A; Duley, John; Egmont-Peterson, Michael; Hamel, Ben C J; Lugtenberg, Dorien; Nabuurs, Sander B; Roeffen, Melissa; van Bokhoven, Hans; van Kuilenburg, Andre B P; Weaving, Linda; Wevers, Ron A.; Williams, Kelly; Zoetekouw, Lida; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthArts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1, American Journal of Human Genetics, vol.81,(3),2007,pp 507-518
2013Fluoroquinolone and Macrolide Resistance-Associated Mutations in Mycoplasma genitaliumCouldwell, Deborah; Gilbert, Gwendolyn (Lyn); Donald, Jennifer A; Jeoffreys, Neisha; Tagg, Kaitlin; Medicine; Western Clinical School: Westmead Millennium InstituteFluoroquinolone and Macrolide Resistance-Associated Mutations in Mycoplasma genitalium, Journal of Clinical Microbiology, vol.51, 7, 2013,pp 2245-2249
2010Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis.Chiu, Christine; Ingles, J; Jormakka, Mika; Kennerson, Marina; Semsarian, Chris; Bagnall, Richard D; Donald, Jennifer A; Lind, Joanne M.; Yeates, Laura; Central Clinical School: Centenary Institute; Central Clinical School: Office; Central Clinical School: Centenary Institute; Concord Clinical School: ANZAC Research Institute; Central Clinical School: Centenary InstituteMutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy: A Genome-Wide Analysis., Journal of the American College of Cardiology, vol.55, 11,pp 1127-1135