John C. Mulley

24.8k citations

189 papers · 13.6k indexed · 4 hit papers · h-index 60

Impact in

Psychiatry and Mental health top 0.1%
- Epilepsy research and treatment
Cellular and Molecular Neuroscience top 0.2%
- Neuroscience and Neuropharmacology Research

Papers in

Genetics 114
- Genetics and Neurodevelopmental Disorders 80
- Genomic variations and chromosomal abnormalities 36
- Genomics and Rare Diseases 33
Psychiatry and Mental health 51
- Epilepsy research and treatment 50

Co-authors: Samuel F. Berkovic Ingrid E. Scheffer Robyn H. Wallace Grant R. Sutherland Hilary A. Phillips Ági K. Gedeon Steven Petrou Leanne M. Dibbens
Journals: Epilepsia (17 papers)Journal of Medical Genetics (12 papers)Neurology (10 papers)Genomics (10 papers)Nature Genetics (9 papers)
Partner nations: Australia United States United Kingdom

In The Last Decade

John C. Mulley

188 papers receiving 13.2k citations

Hit Papers

align trajectories log scale

Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures 2001 · 590 citations

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

it has ≥500 total citations;
it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
it reaches the top citation threshold in at least one of its specific research topics.

2001 Nature Genetics
1998 Nature Genetics
1995 Nature Genetics
1991 Science

Peers

Countries citing papers authored by John C. Mulley

Since Specialization

Citations

This map shows the geographic impact of John C. Mulley's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by John C. Mulley with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites John C. Mulley more than expected).

Fields of papers citing papers by John C. Mulley

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by John C. Mulley. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by John C. Mulley. The network helps show where John C. Mulley may publish in the future.

Co-authors

The 25 scholars most cited alongside John C. Mulley, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with John C. Mulley Line = papers co-authored together John C. Mulley links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Examination of an eHealth literacy scale and a health literacy scale in a population with moderate to high cardiovascular risk: Rasch analyses PLoS ONE ·Sarah Richtering, Rebecca Morris, Sze‐Ee Soh, Anna Barker, 大鬼木, Lis Neubeck, Genevieve Coorey, John C. Mulley, John Chalmers, Tim Usherwood, David Peiris, Clara K Chow, Julie Redfern	2017	71
2	Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study The Lancet Neurology ·Anne M. McIntosh, Jacinta M. McMahon, Leanne M. Dibbens, Xenia Iona, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic	2010	101
3	Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance Human Molecular Genetics ·Leanne M. Dibbens, Saul A. Mullen, Katherine L. Helbig, Heather C. Mefford, Marta A. Bayly, Susannah T. Bellows, Costin Leu, Holger Trucks, Tanja Obermeier, Michael Wittig, André Franke, Hande Çağlayan, Zühal Yapıcı, T. Sander, Evan E. Eichler, Ingrid E. Scheffer, John C. Mulley, Samuel F. Berkovic	2009	168
4	Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way Genome Medicine ·John C. Mulley, Leanne M. Dibbens	2009	15
5	Sodium channel alpha-1 subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms The American Journal of Human Genetics ·John C. Mulley, Kazuaki Ishii, Bree Hodgson, Bronwyn E. Grinton, R M Gardiner, Robert A. Robinson, Victoria Rodriguez‐Casero, Xingfu Shu, James P. Morgan, Louise A. Harkin, Leanne M. Dibbens, Toshiaki Yamamoto, E. Andermann, Samuel F. Berkovic, Ingrid E. Scheffer	2003	11
6	Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation Brain ·Carla Marini, Louise A. Harkin, Robyn H. Wallace, John C. Mulley, Ingrid E. Scheffer, Samuel F. Berkovic	2002	118
7	Syndromic form of X‐linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22 American Journal of Medical Genetics Part A ·Gillian Turner, Ági K. Gedeon, Bronwyn Kerr, Rachael E. Bennett, John C. Mulley, M. W. Partington	2002	14
8	CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy* The American Journal of Human Genetics ·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	2001	239
9	Neuronal Sodium-Channel α1-Subunit Mutations in Generalized Epilepsy with Febrile Seizures Plus The American Journal of Human Genetics ·Robyn H. Wallace, Ingrid E. Scheffer, Shaun Barnett, M. Richards, Leanne M. Dibbens, R. Desai, Tally Lerman‐Sagie, Dorit Lev, Aziz Mazarib, Nathan Brand, Bruria Ben‐Zeev, Igor Goikhman, Rita Singh, Gabriel Kremmidiotis, Alison Gardner, G.R. Sutherland, Alfred L. George, John C. Mulley, Samuel F. Berkovic	2001	272
10	Gene Localization for an Autosomal Dominant Familial Periodic Fever to 12p13 The American Journal of Human Genetics ·John C. Mulley, Kathrin Saar, María Cecilia Mayans Brun, Franz Rüschendorf, Hilary A. Phillips, Alison Colley, David Sillence, André Reis, Meredith Wilson	1998	63
11	FMR2 Expression in Families with Fraxe Mental Retardation Human Molecular Genetics ·Jozef Gécz, B. A. Oostra, Athel Hockey, Pablo Carbonell, Gillian Turner, E Haan, G.R. Sutherland, John C. Mulley	1997	45
12	Regional localization of two non-specific X-linked mental retardation genes (MRX30 andMRX31) American Journal of Medical Genetics ·Andrew J. Donnelly, M. W. Partington, Anunonwu Christopher Chike Okereke, John C. Mulley	1996	24
13	Transmitting males and carrier females in fragile X–revisited American Journal of Medical Genetics ·Danuta Z. Loesch, David Hay, John C. Mulley	1994	59
14	X‐linked mental retardation with dystonic movements of the hands (PRTS): Revisited American Journal of Medical Genetics ·Ági K. Gedeon, M. W. Partington, John C. Mulley	1994	15
15	Fragile X syndrome without CCG amplification has an FMR1 deletion Nature Genetics ·Ági K. Gedeon, Emma K. Baker, Harriet L. Robinson, M. W. Partington, Bella Gross, Antonella Manca, Bernhard Korn, Annemarie Poustka, S. Yu, G.R. Sutherland, John C. Mulley	1992	167
16	A (CA)n repeat polymorphism for the human skeletal muscle α-actinin gene ACTN2 and its localization on the linkage map of chromosome 1 Genomics ·Alan H. Beggs, Hilary A. Phillips, H.M. Kozman, John C. Mulley, Steve D. Wilton, Louis M. Kunkel, Nigel G. Laing	1992	10
17	Linkage homogeneity near the fragile X locus in normal and fragile X families Genomics ·G K Suthers, John C. Mulley, Marie‐Antoinette Voelckel, Niklas Dahl, Marja‐Leena Väisänen, Peter Steinbach, Ian A. Glass, Charles E. Schwartz, Bernard A. van Oost, Stephen N. Thibodeau, N E Haites, B. A. Oostra, Albert Schinzel, Miguel Carballo, C. Phillip Morris, John J. Hopwood, G.R. Sutherland	1991	11
18	A linkage group with FRA16B (the fragile site at 16q22.1) Human Genetics ·John C. Mulley, V.J. Hyland, Shoji Tada, K. K. Lee, Ági K. Gedeon, G.R. Sutherland	1989	2
19	Case report: Fragile X syndrome and nephrogenic diabetes insipidus American Journal of Medical Genetics ·G K Suthers, Gillian Turner, John C. Mulley	1988	3
20	Polymorphism of Human Galactose-1-Phosphate Uridyl Transferase Human Heredity ·John C. Mulley	1982	5

About John C. Mulley

John C. Mulley is a scholar working on Genetics, Psychiatry and Mental health, Cellular and Molecular Neuroscience, Molecular Biology and Cognitive Neuroscience, having authored 189 papers that have together received 13.6k indexed citations. Recurring topics across this work include Genetics and Neurodevelopmental Disorders (80 papers), Epilepsy research and treatment (50 papers), Genomic variations and chromosomal abnormalities (36 papers), Ion channel regulation and function (34 papers), Genomics and Rare Diseases (33 papers), Neuroscience and Neuropharmacology Research (32 papers), Autism Spectrum Disorder Research (17 papers) and Ubiquitin and proteasome pathways (13 papers). The work is most often cited by research in Psychiatry and Mental health (4.7k citations), Cellular and Molecular Neuroscience (4.6k citations), Genetics (6.3k citations), Molecular Biology (7.5k citations) and Cognitive Neuroscience (1.6k citations). John C. Mulley has collaborated with scholars based in Australia, United States and United Kingdom. Frequent co-authors include Samuel F. Berkovic, Ingrid E. Scheffer, Robyn H. Wallace, Grant R. Sutherland, Hilary A. Phillips, Ági K. Gedeon, Steven Petrou, Leanne M. Dibbens, Louise A. Harkin and Jozef Gécz. Their work appears in journals such as Epilepsia, Journal of Medical Genetics, Neurology, Genomics and Nature Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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