James O’Sullivan

4.9k citations

57 papers · 3.9k · 1 hit paper · h-index 30

Impact in

Immunology top 5%
- interferon and immune responses
Molecular Biology top 5%
- Retinal Development and Disorders
- RNA regulation and disease
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies

Papers in

Molecular Biology 32
- Retinal Development and Disorders 6
- RNA regulation and disease 5
- Mitochondrial Function and Pathology 4
- RNA modifications and cancer 4
- Epigenetics and DNA Methylation 4
- DNA Repair Mechanisms 3
- Ubiquitin and proteasome pathways 3
Genetics 13
- Genomics and Rare Diseases 3

Co-authors: Sanjeev S. Bhaskar (16 shared papers)Graeme Charles M. Black (15 shared papers)Jill E. Urquhart (13 shared papers)Simon G. Williams (9 shared papers)Simon Ramsden (6 shared papers)William Newman (14 shared papers)Sarah B. Daly (5 shared papers)D. Gareth Evans (5 shared papers)
Journals: The American Journal of Human Genetics (8 papers)Nature Genetics (4 papers)Clinical Genetics (4 papers)European Journal of Medical Genetics (3 papers)Human Mutation (2 papers)
Partner nations: United Kingdom United States France

In The Last Decade

James O’Sullivan

56 papers receiving 3.8k citations

James O’Sullivan's Hit Papers

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Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling 2014 · 502 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2014 Nature Genetics

Peers

Countries citing papers authored by James O’Sullivan

Since Specialization

Citations

This map shows the geographic impact of James O’Sullivan'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 James O’Sullivan with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites James O’Sullivan more than expected).

Fields of papers citing papers by James O’Sullivan

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by James O’Sullivan. 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 James O’Sullivan. The network helps show where James O’Sullivan may publish in the future.

Co-authors

The 25 scholars most cited alongside James O’Sullivan, 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 James O’Sullivan Line = papers co-authored together James O’Sullivan links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 57 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling Nature Genetics ·Gillian Rice, Yoandris del Toro Duany, Emma M. Jenkinson, Gabriella Forte, Beverley Anderson, Giada Ariaudo, Brigitte Bader‐Meunier, Eileen M Baildam Hit paper breakdown →	2014	502
2	Germline Mutations in SUFU Cause Gorlin Syndrome–Associated Childhood Medulloblastoma and Redefine the Risk Associated With PTCH1 Mutations Journal of Clinical Oncology ·Miriam J. Smith, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, James O’Sullivan, Beverley Anderson, Sarah B. Daly, Jill E. Urquhart	2014	224
3	Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Nature Genetics ·Beverley Anderson, Paul R. Kasher, Joséphine Mayer, Marcin Szynkiewicz, Emma M. Jenkinson, Sanjeev S. Bhaskar, Jill E. Urquhart, Sarah B. Daly	2012	222
4	Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas Nature Genetics ·Miriam J. Smith, James O’Sullivan, Sanjeev S. Bhaskar, Kristen D. Hadfield, Gemma Poke, John Caird, Saba Sharif, Diana M. Eccles	2013	208
5	Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome The American Journal of Human Genetics ·Jill Clayton‐Smith, James O’Sullivan, Sarah B. Daly, Sanjeev S. Bhaskar, Ruth Day, Beverley Anderson, Anne Kathrin Voss, Tim Thomas	2011	161
6	Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation Arthritis & Rheumatism ·Alexandre Belot, Paul R. Kasher, Eleanor W. Trotter, Anne‐Perrine Foray, Anne‐Laure Debaud, Gillian Rice, Marcin Szynkiewicz, M. T. Zabot	2013	158
7	Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa The American Journal of Human Genetics ·Alice E. Davidson, Ian D. Millar, Jill E. Urquhart, Rosemary Burgess-Mullan, Yusrah Shweikh, Neil R. A. Parry, James O’Sullivan, Geoffrey J. Maher	2009	157
8	Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing Ophthalmology ·Rachel L. Gillespie, James O’Sullivan, Jane L. Ashworth, Sanjeev S. Bhaskar, Simon G. Williams, Susmito Biswas, Elias Kehdi, Simon Ramsden	2014	152
9	Kidney Single-Cell Atlas Reveals Myeloid Heterogeneity in Progression and Regression of Kidney Disease Journal of the American Society of Nephrology ·Bryan Ronald Conway, Eoin Daniel O'Sullivan, Carolynn Cairns, James O’Sullivan, Daniel J. Simpson, Angela Salzano, Katie L. Connor, Peng Ding	2020	152
10	Identification of mutations in CUL7 in 3-M syndrome Nature Genetics ·Céline Huber, Dora C. Dias-Santagata, Anna Glaser, James O’Sullivan, Raja Brauner, Kenneth Kun-yu Wu, Xinsong Xu, Kerra Pearce	2005	149
11	Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome The American Journal of Human Genetics ·James O’Sullivan, Carolina Cavalcante Bitu, Sarah B. Daly, Jill E. Urquhart, Martin John Barron, Sanjeev S. Bhaskar, Hercílio Martelli‐Júnior, Maria Adela Mansilla	2011	140
12	Molecular findings from 537 individuals with inherited retinal disease Journal of Medical Genetics ·Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Bhushan Panda, Panagiotis I. Sergouniotis	2016	137
13	A paradigm shift in the delivery of services for diagnosis of inherited retinal disease Journal of Medical Genetics ·James O’Sullivan, Brendan G Mullaney, Sanjeev S. Bhaskar, Jonathan E. Dickerson, Georgina W Hall, Anna O’Grady, Andrew R. Webster, Simon Ramsden	2012	136
14	Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease Ophthalmology ·Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, Simon G. Williams, Panagiotis I. Sergouniotis, James O’Sullivan, Janine A. Lamb, Rahat Perveen	2016	117
15	Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis Neurology ·Miriam J. Smith, Bertand Isidor, Christian Beetz, Simon G. Williams, Sanjeev S. Bhaskar, Wilfrid Richer, James O’Sullivan, Beverly Anderson	2014	96
16	Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth The American Journal of Human Genetics ·Dan A. Hanson, Philip George Murray, James O’Sullivan, Jill E. Urquhart, Sarah B. Daly, Sanjeev S. Bhaskar, Leslie G. Biesecker, Mars S. Skae	2011	94
17	MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma Proceedings of the National Academy of Sciences ·Iván Conte, Kristen D. Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari Subray Bhat, Annamaria Carissimo, Marianthi Karali	2015	94
18	ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy Human Mutation ·Johann Böhm, Monica Bulla, Jill E. Urquhart, Edoardo Malfatti, Simon G. Williams, James O’Sullivan, Anastazja Szlauer‐Stefańska, Catherine E. Koch	2017	86
19	Expanding the genotypic spectrum of Perrault syndrome Clinical Genetics ·Leigh A. M. Demain, Jill E. Urquhart, James O’Sullivan, Simon G. Williams, Sanjeev S. Bhaskar, Emma M. Jenkinson, Charles Marques Lourenço, Arvid Heiberg	2016	80
20	Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus The American Journal of Human Genetics ·Karen S. Mitchell, James O’Sullivan, Caterina Missero, Ed Blair, Rose M. Richardson, Beverley Anderson, Dario Antonini, Jeffrey Clark Murray	2011	77

About James O’Sullivan

James O’Sullivan is a scholar working on Molecular Biology, Genetics, Rheumatology, Cell Biology and Immunology, having authored 57 papers that have together received 3.9k indexed citations. Recurring topics across this work include Retinal Development and Disorders (6 papers), RNA regulation and disease (5 papers), Mitochondrial Function and Pathology (4 papers), RNA modifications and cancer (4 papers), Epigenetics and DNA Methylation (4 papers), Genomics and Rare Diseases (3 papers), DNA Repair Mechanisms (3 papers) and Ubiquitin and proteasome pathways (3 papers). The work is most often cited by research in Immunology (706 citations), Molecular Biology (2.3k citations), Ophthalmology (273 citations), Rheumatology (419 citations) and Genetics (765 citations). James O’Sullivan has collaborated with scholars based in United Kingdom, United States and France. Frequent co-authors include Sanjeev S. Bhaskar, Graeme Charles M. Black, Jill E. Urquhart, Simon G. Williams, Simon Ramsden, William Newman, Sarah B. Daly, D. Gareth Evans, Miriam J. Smith and Georgina W Hall. Their work appears in journals such as The American Journal of Human Genetics, Nature Genetics, Clinical Genetics, European Journal of Medical Genetics and Human Mutation.

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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James O’Sullivan

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In The Last Decade

James O’Sullivan

James O’Sullivan's Hit Papers

Peers

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Fields of papers citing papers by James O’Sullivan

All Works

About James O’Sullivan

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