John C. Mulley
1991–2024 年に発表
- 88
- 論文数
- 21,070
- 被引用数
- 80
- h 指数
- 88
- i10 指数
被引用数
引用元
国・地域
機関
分野
- Biochemistry, Genetics and Molecular Biology50.7%
- Medicine28.1%
- Neuroscience14.8%
- Health Professions2.8%
- Immunology and Microbiology1.5%
- Psychology0.4%
- その他1.7%
トピック
- Epilepsy research and treatment8.3%
- Genetics and Neurodevelopmental Disorders7.9%
- Neuroscience and Neuropharmacology Research7.4%
- Ion channel regulation and function5.6%
- Genomics and Rare Diseases3.7%
- Inflammasome and immune disorders2.3%
- その他64.8%
共著者
- Samuel F. Berkovic53
- Ingrid E. Scheffer48
- Leanne M. Dibbens22
- Robyn H. Wallace17
- Jozef Gécz15
- Sarah E. Heron15
- Hilary A. Phillips14
- Louise A. Harkin14
- Grant R. Sutherland11
- Ági K. Gedeon11
- Jacinta M. McMahon10
- G.R. Sutherland9
- Steven Petrou9
- Bronwyn E. Grinton8
- Carla Marini8
- Sara Kivity8
- Xenia Iona7
- Alison Gardner6
- Andrew J. Donnelly6
- Bree Hodgson6
- Sameer M. Zuberi6
- Zaid Afawi6
- Amos D. Korczyn5
- Aziz Mazarib5
全論文
- Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes
著者: Michael McDermott, Ivona Aksentijevich, Jérôme Galon, Elizabeth McDermott, B Ogunkolade, Michael Centola, Elizabeth Mansfield, Massimo Gadina, Leena Karenko, Tom Pettersson, John McCarthy, David M. Frucht, Martin Aringer, Yelizaveta Torosyan, Anna‐Maija Teppo, Meredith Wilson, H.Mehmet Karaarslan, Ying Wan, Ian Todd, Geryl Wood, Ryan Schlimgen, Thisum R. Kumarajeewa, Sheldon M. Cooper, John P. Vella, Christopher I. Amos, John C. Mulley, Kathleen A. Quane, Michael G. Molloy, Annamari Ranki, Richard J. Powell, G. A. Hitman, John J. O’Shea, Daniel L. Kastner - Cell 1999 被引用: 1,421
- Effectiveness, acceptability and usefulness of mobile applications for cardiovascular disease self-management: Systematic review with meta-synthesis of quantitative and qualitative data
著者: Genevieve Coorey, Lis Neubeck, John C. Mulley, Julie Redfern - European Journal of Preventive Cardiology 2018 被引用: 307
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
著者: Sarah Weckhuysen, Simone Mandelstam, Arvid Suls, Dominique Audenaert, Tine Deconinck, Lieve Claes, Liesbet Deprez, Katrien Smets, Dimitrina Hristova, Iglika Yordanova, Albena Jordanova, Berten Ceulemans, Anna Jansen, Danièle Hasaerts, Filip Roelens, Lieven Lagae, Simone C. Yendle, Thorsten Stanley, Sarah E. Heron, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Peter De Jonghe - Annals of Neurology 2011 被引用: 514
- A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
著者: Ortrud K. Steinlein, John C. Mulley, Peter Propping, Robyn H. Wallace, Hilary A. Phillips, Grant R. Sutherland, Ingrid E. Scheffer, Samuel F. Berkovic - Nature Genetics 1995 被引用: 1,132
- X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
著者: Leanne M. Dibbens, Patrick Tarpey, Kim Hynes, Marta A. Bayly, Ingrid E. Scheffer, Raffaella Smith, Jamee M. Bomar, Edwina Sutton, Lucianne Vandeleur, Cheryl Shoubridge, Sarah Edkins, Samantha J. Turner, Claire Stevens, Sarah O’Meara, Calli Tofts, Syd Barthorpe, Gemma Buck, Jennifer Cole, Kelly Halliday, David Jones, Rebecca Lee, Mark Madison, Tatiana Mironenko, Jennifer Varian, Sofie West, Sara Widaa, Paul Wray, John Teague, Ed Dicks, Adam P. Butler, Andrew Menzies, Andy Jenkinson, Rebecca Shepherd, James F. Gusella, Zaid Afawi, Aziz Mazarib, Miriam Y. Neufeld, Sara Kivity, Dorit Lev, Tally Lerman‐Sagie, Amos D. Korczyn, Christopher P. Derry, Grant R. Sutherland, Kathryn Friend, Marie Shaw, Mark Corbett, Hyung‐Goo Kim, Daniel H. Geschwind, Paul Q. Thomas, Eric Haan, Stephen G. Ryan, Shane McKee, Samuel F. Berkovic, P. Andrew Futreal, Michael R. Stratton, John C. Mulley, Jozef Gécz - Nature Genetics 2008 被引用: 450
- Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B
著者: Robyn H. Wallace, Dao Wen Wang, Rita Singh, Ingrid E. Scheffer, Alfred L. George, Hilary A. Phillips, Kathrin Saar, André Reis, Eric W. Johnson, Grant R. Sutherland, Samuel F. Berkovic, John C. Mulley - Nature Genetics 1998 被引用: 1,001
- Cloning and Characterization of the Human Activity-dependent Neuroprotective Protein
著者: Rachel Zamostiano, Albert Pinhasov, E. Gelber, Ruth A. Steingart, Eyal Seroussi, Eliezer Giladi, Merav Bassan, Yoram Wollman, Helen J. Eyre, John C. Mulley, Douglas E. Brenneman, Illana Gozes - Journal of Biological Chemistry 2001 被引用: 262
- Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
著者: Robyn H. Wallace, Carla Marini, Steven Petrou, Louise A. Harkin, David N. Bowser, Rekha G. Panchal, David A. Williams, Grant R. Sutherland, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic - Nature Genetics 2001 被引用: 782
- The spectrum of SCN1A-related infantile epileptic encephalopathies
著者: Louise A. Harkin, Jacinta M. McMahon, Xenia Iona, Leanne M. Dibbens, James T. Pelekanos, Sameer M. Zuberi, Lynette G. Sadleir, Eva Andermann, Deepak Gill, K Farrell, Mary Connolly, Thorsten Stanley, Michael Harbord, Frédérick Andermann, Jing Wang, Sat Dev Batish, Jeffrey G. Jones, William Seltzer, Alison Gardner, Grant Sutherland, Samuel F. Berkovic, John C. Mulley, Ingrid E. Scheffer - Brain 2007 被引用: 530
- Mutations in DEPDC5 cause familial focal epilepsy with variable foci
著者: Leanne M. Dibbens, Boukje de Vries, Simona Donatello, Sarah E. Heron, Bree Hodgson, Satyan Chintawar, Douglas E. Crompton, James N. Hughes, Susannah T. Bellows, Karl Martin Klein, Petra M.C. Callenbach, Mark Corbett, Alison Gardner, Sara Kivity, Xenia Iona, Brigid M. Regan, Claudia M Weller, Denis Crimmins, Terence J. O’Brien, Rosa Guerrero, John C. Mulley, François Dubeau, Laura Licchetta, Francesca Bisulli, Patrick Cossette, Paul Q. Thomas, Jozef Gécz, José M. Serratosa, Oebele F. Brouwer, Frédérick Andermann, Eva Andermann, Arn M. J. M. van den Maagdenberg, Massimo Pandolfo, Samuel F. Berkovic, Ingrid E. Scheffer - Nature Genetics 2013 被引用: 364
- Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis
著者: Samuel F. Berkovic, Leanne M. Dibbens, Alicia Oshlack, Jeremy D. Silver, Marina Katerelos, Danya F. Vears, Renate Lüllmann‐Rauch, Judith Blanz, Ke Wei Zhang, Jim Stankovich, Renate M. Kalnins, John P. Dowling, Eva Andermann, Frédérick Andermann, Enrico Faldini, Rudi D’Hooge, Lata Vadlamudi, Richard Macdonell, Bree Hodgson, Marta A. Bayly, Judy Savige, John C. Mulley, Gordon K. Smyth, David A. Power, Paul Säftig, Melanie Bahlo - The American Journal of Human Genetics 2008 被引用: 259
- SCN1Amutations and epilepsy
著者: John C. Mulley, Ingrid E. Scheffer, Steven Petrou, Leanne M. Dibbens, Samuel F. Berkovic, Louise A. Harkin - Human Mutation 2005 被引用: 354
- PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
著者: Sarah E. Heron, Bronwyn E. Grinton, Sara Kivity, Zaid Afawi, Sameer M. Zuberi, James N. Hughes, Clair Pridmore, Bree Hodgson, Xenia Iona, Lynette G. Sadleir, James T. Pelekanos, Eric Herlenius, Hadassa Goldberg‐Stern, Haim Bassan, Eric Haan, Amos D. Korczyn, Alison Gardner, Mark Corbett, Jozef Gécz, Paul Q. Thomas, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Leanne M. Dibbens - The American Journal of Human Genetics 2012 被引用: 261
- Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
著者: Carla Marini, Louise A. Harkin, Robyn H. Wallace, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic - Brain 2002 被引用: 158
- CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*
著者: Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi, David Goudie, Sarah E. Heron, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand, John C. Mulley - The American Journal of Human Genetics 2001 被引用: 325
- Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy
著者: Heneu O. Tan, Christopher A. Reid, Frank N. Single, Philip Davies, Cindy Chiu, Susan M. Murphy, Alison L. Clarke, Leanne M. Dibbens, Heinz Krestel, John C. Mulley, Mathew V. Jones, Peter H. Seeburg, Bert Sakmann, Samuel F. Berkovic, Rolf Sprengel, Steven Petrou - National Academy of Sciences, Proceedings of the National Academy of Sciences 2007 被引用: 216
- Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants
著者: Sarah E. Heron, Houman Khosravani, Diego Varela, Chris Bladen, Tristiana C. Williams, Michelle Newman, Ingrid E. Scheffer, Samuel F. Berkovic, John C. Mulley, Gerald W. Zamponi - Annals of Neurology 2007 被引用: 215
- Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults
著者: Floor E. Jansen, Lynette G. Sadleir, Louise A. Harkin, Lata Vadlamudi, Jacinta M. McMahon, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic - Neurology 2006 被引用: 160
- Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28
著者: Lesley C. Adès, Ági K. Gedeon, Meredith Wilson, M. C. Latham, M. W. Partington, John C. Mulley, John W. Nelson, Kei Lui, David O. Sillence - American Journal of Medical Genetics 1993 被引用: 122
- Examination of an eHealth literacy scale and a health literacy scale in a population with moderate to high cardiovascular risk: Rasch analyses
著者: Sarah Richtering, Rebecca Morris, Sze‐Ee Soh, Anna Barker, Fiona Bampi, Lis Neubeck, Genevieve Coorey, John C. Mulley, John Chalmers, Tim Usherwood, David Peiris, Clara K Chow, Julie Redfern - PLoS ONE 2017 被引用: 97
- Persuasive design features within a consumer-focused eHealth intervention integrated with the electronic health record: A mixed methods study of effectiveness and acceptability
著者: Genevieve Coorey, David Peiris, Tim Usherwood, Lis Neubeck, John C. Mulley, Julie Redfern - PLoS ONE 2019 被引用: 35
- Overcoming silos in health care systems through meso-level organisations – a case study of health reforms in New South Wales, Australia
著者: David Peiris, Anne-Marie Feyer, Justine Barnard, Laurent Billot, Tristan Bouckley, Anna Campain, Damien V. Cordery, Alexandra de Souza, Laura Downey, Adam G. Elshaug, Belinda Ford, Hannah Hanfy, Lynelle Hales, Behnoosh Khalaj, Carmen Huckel Schneider, James Inglis, Stephen Jan, Louisa Jorm, Bruce E. Landon, Sanja Lujic, John C. Mulley, Sallie‐Anne Pearson, Gill Schierhout, Prithivi Sivaprakash, Cynthia Stanton, Anna Stephens, Deborah Willcox - The Lancet Regional Health - Western Pacific 2024 被引用: 21
- Fragile X Genotype Characterized by an Unstable Region of DNA
著者: Shuancang Yu, Melanie Pritchard, Eric J. Kremer, Michael Lynch, J.K. Nancarrow, Elizabeth Baker, K. Holman, John C. Mulley, Stephen T. Warren, David Schlessinger, G.R. Sutherland, Robert I. Richards - Science 1991 被引用: 801
- Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
著者: Louise A. Harkin, David N. Bowser, Leanne M. Dibbens, Rita Singh, Fiona Phillips, Robyn H. Wallace, M. Richards, David A. Williams, John C. Mulley, Samuel F. Berkovic, Ingrid E. Scheffer, Steven Petrou - The American Journal of Human Genetics 2002 被引用: 440
