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John C. Mulley

Active 1991–2024

88
Papers
21,070
Citations
80
h-index
88
i10-index

Citations

Citations per year for John C. Mulley1991: 10 citations1992: 38 citations1993: 59 citations1994: 47 citations1995: 40 citations1996: 48 citations1997: 48 citations1998: 62 citations1999: 126 citations2000: 160 citations2001: 142 citations2002: 194 citations2003: 195 citations2004: 214 citations2005: 232 citations2006: 226 citations2007: 221 citations2008: 229 citations2009: 243 citations2010: 250 citations2011: 200 citations2012: 159 citations2013: 209 citations2014: 216 citations2015: 183 citations2016: 161 citations2017: 145 citations2018: 119 citations2019: 385 citations2020: 386 citations2021: 308 citations2022: 235 citations2023: 176 citations2024: 226 citations2025: 50 citations2026: 3 citations

Citation sources

Countries

World map of the countries and regions citing this authorUnited States: 1,778 citing papers, 24.7% of this breakdownUnited Kingdom: 599 citing papers, 8.3% of this breakdownAustralia: 489 citing papers, 6.8% of this breakdownGermany: 457 citing papers, 6.4% of this breakdownItaly: 453 citing papers, 6.3% of this breakdownFrance: 412 citing papers, 5.7% of this breakdownCanada: 315 citing papers, 4.4% of this breakdownNetherlands: 288 citing papers, 4% of this breakdownChina: 268 citing papers, 3.7% of this breakdownJapan: 207 citing papers, 2.9% of this breakdownBelgium: 176 citing papers, 2.4% of this breakdownSwitzerland: 150 citing papers, 2.1% of this breakdown
0%24.7%Other 22.3%

Institutions

Fields

  • Biochemistry, Genetics and Molecular Biology50.7%
  • Medicine28.1%
  • Neuroscience14.8%
  • Health Professions2.8%
  • Immunology and Microbiology1.5%
  • Psychology0.4%
  • Other1.7%

Topics

  • 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%
  • Other64.8%

Coauthors

All papers

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  1. Germline Mutations in the Extracellular Domains of the 55 kDa TNF Receptor, TNFR1, Define a Family of Dominantly Inherited Autoinflammatory Syndromes

    Authors: 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 cited by 1,421

  2. Effectiveness, acceptability and usefulness of mobile applications for cardiovascular disease self-management: Systematic review with meta-synthesis of quantitative and qualitative data

    Authors: Genevieve Coorey, Lis Neubeck, John C. Mulley, Julie Redfern - European Journal of Preventive Cardiology 2018 cited by 307

  3. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

    Authors: 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 cited by 514

  4. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

    Authors: 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 cited by 1,132

  5. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

    Authors: 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 cited by 450

  6. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B

    Authors: 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 cited by 1,001

  7. Cloning and Characterization of the Human Activity-dependent Neuroprotective Protein

    Authors: 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 cited by 262

  8. Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures

    Authors: 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 cited by 782

  9. The spectrum of SCN1A-related infantile epileptic encephalopathies

    Authors: 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 cited by 530

  10. Mutations in DEPDC5 cause familial focal epilepsy with variable foci

    Authors: 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 cited by 364

  11. Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis

    Authors: 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 cited by 259

  12. SCN1Amutations and epilepsy

    Authors: John C. Mulley, Ingrid E. Scheffer, Steven Petrou, Leanne M. Dibbens, Samuel F. Berkovic, Louise A. Harkin - Human Mutation 2005 cited by 354

  13. PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

    Authors: 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 cited by 261

  14. Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation

    Authors: Carla Marini, Louise A. Harkin, Robyn H. Wallace, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic - Brain 2002 cited by 158

  15. CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*

    Authors: 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 cited by 325

  16. Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

    Authors: 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 cited by 216

  17. Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

    Authors: 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 cited by 215

  18. Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adults

    Authors: 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 cited by 160

  19. Barth syndrome: Clinical features and confirmation of gene localisation to distal Xq28

    Authors: 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 cited by 122

  20. Examination of an eHealth literacy scale and a health literacy scale in a population with moderate to high cardiovascular risk: Rasch analyses

    Authors: 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 cited by 97

  21. Persuasive design features within a consumer-focused eHealth intervention integrated with the electronic health record: A mixed methods study of effectiveness and acceptability

    Authors: Genevieve Coorey, David Peiris, Tim Usherwood, Lis Neubeck, John C. Mulley, Julie Redfern - PLoS ONE 2019 cited by 35

  22. Overcoming silos in health care systems through meso-level organisations – a case study of health reforms in New South Wales, Australia

    Authors: 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 cited by 21

  23. Fragile X Genotype Characterized by an Unstable Region of DNA

    Authors: 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 cited by 801

  24. Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus

    Authors: 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 cited by 440