Integrating Genomics into Healthcare: A Global Responsibility
Stark, Zornitza, Dolman, Lena, Manolio, Teri A., Ozenberger, Brad, Hill, Sue L., Caulfied, Mark J., Levy, Yves, Glazer, David, Wilson, Julia, Lawler, Mark, Boughtwood, Tiffany, Braithwaite, Jeffrey, Goodhand, Peter, Birney, Ewan, North, Kathryn N.
Published in American journal of human genetics (03.01.2019)
Published in American journal of human genetics (03.01.2019)
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Journal Article
A brief history of human disease genetics
Claussnitzer, Melina, Cho, Judy H., Collins, Rory, Cox, Nancy J., Dermitzakis, Emmanouil T., Hurles, Matthew E., Kathiresan, Sekar, Kenny, Eimear E., Lindgren, Cecilia M., MacArthur, Daniel G., North, Kathryn N., Plon, Sharon E., Rehm, Heidi L., Risch, Neil, Rotimi, Charles N., Shendure, Jay, Soranzo, Nicole, McCarthy, Mark I.
Published in Nature (London) (09.01.2020)
Published in Nature (London) (09.01.2020)
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Journal Article
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare
Stark, Zornitza, Boughtwood, Tiffany, Phillips, Peta, Christodoulou, John, Hansen, David P., Braithwaite, Jeffrey, Newson, Ainsley J., Gaff, Clara L., Sinclair, Andrew H., North, Kathryn N.
Published in American journal of human genetics (03.07.2019)
Published in American journal of human genetics (03.07.2019)
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Journal Article
Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle
Thomas, Kristen C, Zheng, Xi Fiona, Garces Suarez, Francia, Raftery, Joanna M, Quinlan, Kate G R, Yang, Nan, North, Kathryn N, Houweling, Peter J
Published in PloS one (11.02.2014)
Published in PloS one (11.02.2014)
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Journal Article
Delineating Visual Habituation Profiles in Preschoolers with Neurofibromatosis Type 1 and Autism Spectrum Disorder: A Cross-Syndrome Study
Hocking, Darren R., Sun, Xiaoyun, Haebich, Kristina, Darke, Hayley, North, Kathryn N., Vivanti, Giacomo, Payne, Jonathan M.
Published in Journal of autism and developmental disorders (01.05.2024)
Published in Journal of autism and developmental disorders (01.05.2024)
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Journal Article
Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement
Webborn, Nick, Williams, Alun, McNamee, Mike, Bouchard, Claude, Pitsiladis, Yannis, Ahmetov, Ildus, Ashley, Euan, Byrne, Nuala, Camporesi, Silvia, Collins, Malcolm, Dijkstra, Paul, Eynon, Nir, Fuku, Noriyuki, Garton, Fleur C, Hoppe, Nils, Holm, Søren, Kaye, Jane, Klissouras, Vassilis, Lucia, Alejandro, Maase, Kamiel, Moran, Colin, North, Kathryn N, Pigozzi, Fabio, Wang, Guan
Published in British journal of sports medicine (01.12.2015)
Published in British journal of sports medicine (01.12.2015)
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Journal Article
Conference Proceeding
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Diagnostic approach to the congenital muscular dystrophies
Bönnemann, Carsten G, Wang, Ching H, Quijano-Roy, Susana, Deconinck, Nicolas, Bertini, Enrico, Ferreiro, Ana, Muntoni, Francesco, Sewry, Caroline, Béroud, Christophe, Mathews, Katherine D, Moore, Steven A, Bellini, Jonathan, Rutkowski, Anne, North, Kathryn N
Published in Neuromuscular disorders : NMD (01.04.2014)
Published in Neuromuscular disorders : NMD (01.04.2014)
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Journal Article
Conference Proceeding
Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way
Eynon, Nir, Hanson, Erik D., Lucia, Alejandro, Houweling, Peter J., Garton, Fleur, North, Kathryn N., Bishop, David J.
Published in Sports medicine (Auckland) (01.09.2013)
Published in Sports medicine (Auckland) (01.09.2013)
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Journal Article
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned
Ghaoui, Roula, Cooper, Sandra T, Lek, Monkol, Jones, Kristi, Corbett, Alastair, Reddel, Stephen W, Needham, Merrilee, Liang, Christina, Waddell, Leigh B, Nicholson, Garth, O'Grady, Gina, Kaur, Simranpreet, Ong, Royston, Davis, Mark, Sue, Carolyn M, Laing, Nigel G, North, Kathryn N, MacArthur, Daniel G, Clarke, Nigel F
Published in JAMA neurology (01.12.2015)
Published in JAMA neurology (01.12.2015)
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Journal Article
Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching
Kiriaev, Leonit, Houweling, Peter J, North, Kathryn N, Head, Stewart I
Published in Human molecular genetics (04.05.2022)
Published in Human molecular genetics (04.05.2022)
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Journal Article
Disease Burden and Symptom Structure of Autism in Neurofibromatosis Type 1: A Study of the International NF1-ASD Consortium Team (INFACT)
Morris, Stephanie M, Acosta, Maria T, Garg, Shruti, Green, Jonathan, Huson, Susan, Legius, Eric, North, Kathryn N, Payne, Jonathan M, Plasschaert, Ellen, Frazier, Thomas W, Weiss, Lauren A, Zhang, Yi, Gutmann, David H, Constantino, John N
Published in JAMA psychiatry (Chicago, Ill.) (01.12.2016)
Published in JAMA psychiatry (Chicago, Ill.) (01.12.2016)
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Journal Article
Normative reference values for strength and flexibility of 1,000 children and adults
McKay, Marnee J, Baldwin, Jennifer N, Ferreira, Paulo, Simic, Milena, Vanicek, Natalie, Burns, Joshua
Published in Neurology (03.01.2017)
Published in Neurology (03.01.2017)
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Journal Article
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Journal Article
Neuropsychological factors associated with performance on the rey-osterrieth complex figure test in children with neurofibromatosis type 1
Maier, Alice, Pride, Natalie A, Hearps, Stephen J C, Shah, Nijashree, Porter, Melanie, North, Kathryn N, Payne, Jonathan M
Published in Child neuropsychology (17.02.2024)
Published in Child neuropsychology (17.02.2024)
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Journal Article
Distinctive patterns of microRNA expression in primary muscular disorders
Eisenberg, Iris, Eran, Alal, Nishino, Ichizo, Moggio, Maurizio, Lamperti, Costanza, Amato, Anthony A, Lidov, Hart G, Kang, Peter B, North, Kathryn N, Mitrani-Rosenbaum, Stella, Flanigan, Kevin M, Neely, Lori A, Whitney, Duncan, Beggs, Alan H, Kohane, Isaac S, Kunkel, Louis M
Published in Proceedings of the National Academy of Sciences - PNAS (23.10.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (23.10.2007)
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Journal Article
Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3)
Knights, Alexander J., Vohralik, Emily J., Houweling, Peter J., Stout, Elizabeth S., Norton, Laura J., Alexopoulos, Stephanie J., Yik, Jinfen. J., Mat Jusoh, Hanapi, Olzomer, Ellen M., Bell-Anderson, Kim S., North, Kathryn N., Hoehn, Kyle L., Crossley, Merlin, Quinlan, Kate G. R.
Published in Nature communications (10.06.2020)
Published in Nature communications (10.06.2020)
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