Richard Caswell

5.2k citations

63 papers · 2.5k indexed · h-index 26

Impact in

Genetics top 2%
- Diabetes and associated disorders
- Genetics and Neurodevelopmental Disorders
Endocrinology, Diabetes and Metabolism top 5%
- Diabetes Management and Research

Papers in

Genetics 22
- Diabetes and associated disorders 6
- Genetics and Neurodevelopmental Disorders 5
- Genomics and Rare Diseases 5
Virology 3

Co-authors: Sian Ellard John Sinclair Christian Hagemeier Tony Kouzarides Andrew T. Hattersley Hana Lango Allen Sarah E. Flanagan Elisa De Franco
Journals: European Journal of Human Genetics (5 papers)Journal of General Virology (4 papers)Journal of Virology (4 papers)Diabetes (3 papers)European Journal of Medical Genetics (3 papers)
Partner nations: United Kingdom United States France

In The Last Decade

Richard Caswell

61 papers receiving 2.5k citations

Peers

Countries citing papers authored by Richard Caswell

Since Specialization

Citations

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

Fields of papers citing papers by Richard Caswell

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Richard Caswell. 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 Richard Caswell. The network helps show where Richard Caswell may publish in the future.

Co-authors

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

All Works

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20 of 20 papers shown

#	Work
1	Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis JCI Insight ·Dong Li, Niels Mailand, Emma Ewing, Saskia Hoffmann, Richard Caswell, Lewis Pang, Jacqueline Eason, Ying Dou, Kathleen E. Sullivan, Håkon Håkonarson, Michael A. Levine	2025	0
2	Functional characterization of HNF4A gene variants identify promoter and cell line specific transactivation effects Human Molecular Genetics ·Alba Kaci, Marie H. Solheim, Trine Silgjerd, Jorunn Hjaltadottir, Lorentze Hope Hornnes, Janne Molnes, André Madsen, Gry Sjøholt, Christine Bellanné‐Chantelot, Richard Caswell, Jørn V. Sagen, Pål R. Njølstad, Ingvild Aukrust, Lise Bjørkhaug	2024	1
3	Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements European Journal of Human Genetics ·Thomas W. Laver, Matthew N. Wakeling, Richard Caswell, Benjamin Bunce, Daphne Yau, Jonna M. E. Männistö, Jayne Houghton, Jasmin J. Hopkins, Michael N. Weedon, Vrinda Saraff, Melanie Kershaw, Engela Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, Ana Tangari Saredo, Indraneel Banerjee, Khalid Hussain, Nick Owens, Sarah E. Flanagan	2024	2
4	Clinical findings and structural analysis involving a patient with a novel KLHL15 variant European Journal of Medical Genetics ·Richard Caswell, Júlia Baptista, Lauren Cairns, Kate Wilson, Helen Stewart	2023	1
5	IMPG2-Related Maculopathy American Journal of Ophthalmology ·Johannes Birtel, Richard Caswell, Samantha R. De Silva, Philipp Herrmann, Salwah Rehman, Andrew Lotery, Omar A. Mahroo, Michel Michaelides, Andrew R. Webster, Robert E. MacLaren, Peter Charbel Issa	2023	2
6	Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model Clinical Genetics ·Silvia Beatriz Sanchez Marco, Edgar Buhl, Rose Firth, Bangfu Zhu, Mary Gainsborough, Ana Beleza‐Meireles, Sandra Moore, Richard Caswell, Karen Stals, Sian Ellard, Cameron Kennedy, James J. L. Hodge, Anirban Majumdar	2022	4
7	Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1 European Journal of Human Genetics ·Maya Chopra, Richard Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, M. Bellaïche, Véronique Abadie, Marine Parodi, Françoise Denoyelle, Andrew T. Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin	2022	1
8	Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory Genome Medicine ·Richard Caswell, Adam C. Gunning, Martina Owens, Sian Ellard, Caroline F. Wright	2022	13
9	Mitochondrial Retinopathy Ophthalmology Retina ·Johannes Birtel, C. von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S. Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt, Cornelia Kornblum, Peter Charbel Issa	2021	41
10	Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome SHILAP Revista de lepidopterología ·Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw‐Smith, Karen Stals, Matthew N. Wakeling, Angela Barnicoat, Clare Beesley, Andrea Hanson‐Kahn, Mary K. Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard Caswell	2020	11
11	TRPV6 compound heterozygous variants result in impaired placental calcium transport and severe undermineralization and dysplasia of the fetal skeleton American Journal of Medical Genetics Part A ·Christine Burren, Richard Caswell, Bruce Castle, C.R. Welch, Tom Hilliard, Sarah Smithson, Sian Ellard	2018	33
12	Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts Diabetes ·Elisa De Franco, Sarah E. Flanagan, Takuya Yagi, Damien Abreu, Jana Mahadevan, Matthew B. Johnson, Garan Jones, Fernanda Acosta, Mphele Mulaudzi, Ngee Lek, Vera Oh, Oliver Petz, Richard Caswell, Sian Ellard, Fumihiko Urano, Andrew T. Hattersley	2017	75
13	Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL) Metabolism ·Sahar Elouej, Ana Beleza‐Meireles, Richard Caswell, Kevin Colclough, Sian Ellard, Jean‐Pierre Desvignes, Christophe Béroud, Nicolas Lévy, Shehla Mohammed, Annachiara De Sandre‐Giovannoli	2017	37
14	Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus European Journal of Human Genetics ·Francis H. Sansbury, Birgül Kırel, Richard Caswell, Hana Lango Allen, Sarah E. Flanagan, Andrew T. Hattersley, Sian Ellard, Charles J Shaw-Smith	2015	30
15	Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis Nature Genetics ·Michael N. Weedon, Inês Cebola, Ann‐Marie Patch, Sarah E. Flanagan, Elisa De Franco, Richard Caswell, Santiago A. Rodríguez‐Seguí, Charles Shaw‐Smith, Candy H.-H. Cho, Hana Lango Allen, Jayne Houghton, Christian L. Roth, Rongrong Chen, Khalid Hussain, Phil Marsh, Ludovic Vallier, Anna Murray, Sian Ellard, Jorge Ferrer, Andrew T. Hattersley	2013	191
16	Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease The American Journal of Human Genetics ·Michael N. Weedon, Robert Hastings, Richard Caswell, Weijia Xie, Konrad Paszkiewicz, Thalia Antoniadi, Maggie Williams, Cath King, Lynn Greenhalgh, Ruth Newbury‐Ecob, Sian Ellard	2011	200
17	GATA6 haploinsufficiency causes pancreatic agenesis in humans Nature Genetics ·Hana Lango Allen, Sarah E. Flanagan, Charles Shaw‐Smith, Elisa De Franco, İldem Akerman, Richard Caswell, Jorge Ferrer, Andrew T. Hattersley, Sian Ellard	2011	207
18	Prenatal testing for a novel EBP missense mutation causing X‐linked dominant chondrodysplasia punctata Prenatal Diagnosis ·Carolyn Tysoe, Caroline Law, Richard Caswell, Peter T. Clayton, Sian Ellard	2008	4
19	Human cytomegalovirus mediates cell cycle progression through G1 into early S phase in terminally differentiated cells Journal of General Virology ·John Sinclair, J. Baillie, Richard Caswell, Linda Bryant	2000	42
20	The human cytomegalovirus 86K immediate early (IE) 2 protein requires the basic region of the TATA-box binding protein (TBP) for binding, and interacts with TBP and transcription factor TFIIB via regions of IE2 required for transcriptional regulation Journal of General Virology ·Richard Caswell, Christian Hagemeier, C.-J. Chiou, Gary S. Hayward, Tony Kouzarides, John Sinclair	1993	127

About Richard Caswell

Richard Caswell is a scholar working on Genetics, Virology, Biotechnology, Molecular Biology and Cell Biology, having authored 63 papers that have together received 2.5k indexed citations. Recurring topics across this work include Pancreatic function and diabetes (15 papers), Cytomegalovirus and herpesvirus research (10 papers), Diabetes and associated disorders (6 papers), RNA modifications and cancer (6 papers), Genetics and Neurodevelopmental Disorders (5 papers), Genomics and Rare Diseases (5 papers), CRISPR and Genetic Engineering (4 papers) and RNA regulation and disease (4 papers). The work is most often cited by research in Genetics (931 citations), Endocrinology, Diabetes and Metabolism (374 citations), Parasitology (136 citations), Epidemiology (636 citations) and Molecular Biology (1.3k citations). Richard Caswell has collaborated with scholars based in United Kingdom, United States and France. Frequent co-authors include Sian Ellard, John Sinclair, Christian Hagemeier, Tony Kouzarides, Andrew T. Hattersley, Hana Lango Allen, Sarah E. Flanagan, Elisa De Franco, Michael N. Weedon and Stephen Walker. Their work appears in journals such as European Journal of Human Genetics, Journal of General Virology, Journal of Virology, Diabetes and European Journal of Medical 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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