An audit of community-acquired pneumonia antimicrobial compliance using an intervention bundle in an Irish hospital

por O’Kelly, Brendan, Rueda-Benito, Ana, O’Regan, Mary, Finan, Katherine
Publicado no J Glob Antimicrob Resist (2020)

De novo point mutations in patients diagnosed with ataxic cerebral palsy

por Parolin Schnekenberg, Ricardo, Perkins, Emma M., Miller, Jack W., Davies, Wayne I. L., D’Adamo, Maria Cristina, Pessia, Mauro, Fawcett, Katherine A., Sims, David, Gillard, Elodie, Hudspith, Karl, Skehel, Paul, Williams, Jonathan, O’Regan, Mary, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Sarah, Lustenberger, Andrea, Ragoussis, Jiannis, Jackson, Mandy, Tucker, Stephen J., Németh, Andrea H.
Publicado no Brain (2015)

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model

por Németh, Andrea H., Kwasniewska, Alexandra C., Lise, Stefano, Parolin Schnekenberg, Ricardo, Becker, Esther B. E., Bera, Katarzyna D., Shanks, Morag E., Gregory, Lorna, Buck, David, Zameel Cader, M., Talbot, Kevin, de Silva, Rajith, Fletcher, Nicholas, Hastings, Rob, Jayawant, Sandeep, Morrison, Patrick J., Worth, Paul, Taylor, Malcolm, Tolmie, John, O’Regan, Mary, Valentine, Ruth, Packham, Emily, Evans, Julie, Seller, Anneke, Ragoussis, Jiannis
Publicado em 2013

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

por Symonds, Joseph D, Zuberi, Sameer M, Stewart, Kirsty, McLellan, Ailsa, O‘Regan, Mary, MacLeod, Stewart, Jollands, Alice, Joss, Shelagh, Kirkpatrick, Martin, Brunklaus, Andreas, Pilz, Daniela T, Shetty, Jay, Dorris, Liam, Abu-Arafeh, Ishaq, Andrew, Jamie, Brink, Philip, Callaghan, Mary, Cruden, Jamie, Diver, Louise A, Findlay, Christine, Gardiner, Sarah, Grattan, Rosemary, Lang, Bethan, MacDonnell, Jane, McKnight, Jean, Morrison, Calum A, Nairn, Lesley, Slean, Meghan M, Stephen, Elma, Webb, Alan, Vincent, Angela, Wilson, Margaret
Publicado no Brain (2019)

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

por Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys H., Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno, Sisodiya, Sanjay M.
Publicado no EBioMedicine (2015)

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

por Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F., Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W., Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S., Goodship, Judith, Hobson, Emma, Jones, Wendy D., Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J., Turnpenny, Peter, Whitworth, James, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Lo, Cecilia W., FitzPatrick, David R., Hurles, Matthew E.
Publicado no Nat Genet (2015)